Podcasts about once upon a gene episode

ONCE UPON A GENE - EPISODE 053 Living with Chronic Pain - International Pain Foundation President Barby Ingle Barby Ingle is a fierce advocate, the President of the International Pain Foundation, a chronic pain educator and advocate, motivational speaker, Amazon best-selling author and reality tv personality. She's received more than 20 accolades for her work in the chronic pain community. EPISODE HIGHLIGHTS Where did your journey begin? When I was coaching, I was living all of my dreams. I got endometriosis, went through the treatment process and had a full hysterectomy. Just before my 30th birthday, I was hit by a van and injured, started physical therapy and discovered I had a rare disease triggered by the accident- a rare neuro-autoimmune disease called reflex sympathetic dystrophy (RSD). At first it was regional, but several surgeries complicated the condition and I was in a wheelchair for almost seven years.  Was there ever a point in your diagnosis journey where you lost hope? Even at the lowest, there was hope. The worst moment was when I had a rib removed. The surgeon made a mistake, leaving two bone spurs going into my right lung and wrapped around a nerve bundle in my shoulder. I started having lung collapses, which was disregarded as something that sometimes happens. I didn't know he was wrong and to push further. I experienced a lung collapse that led to an emergency surgery and my dad was there giving me support and hope. What organization did your family help to launch that you're a part of now? Every year, my dad had us do a family project and we would decide at Thanksgiving what it was going to be. Sometimes it would be Christmas caroling at retirement homes or serving food to the homeless. In 2006, we lost my step-sister to the same condition I have, so when Thanksgiving came around my dad led us to start a non-profit. At that time, I was wheelchair bound, bed bound and wasn't able to do much with it, but I was the face of the campaign, The Power of Pain. After the first year, the board decided we needed to broaden the scope to work with all chronic pain diseases. In 2010 I joined the executive board and in 2012 I was elected the President of the foundation. We have expanded internationally to 14 countries with the help of people leading projects to make their communities better. What are you most excited about right now that's happening with the International Pain Foundation? November, or "Nerve-mber" is a big month for us with spotlights on conditions, sources of facts and information and the International Pain Summit, which will be held virtually this year. I'll be speaking at the summit this year with my husband on empowerment for patients and caregivers with tips and tools for everyday life. LINKS AND RESOURCES MENTIONED Teal Pumpkin project https://www.foodallergy.org/our-initiatives/awareness-campaigns/living-teal/teal-pumpkin-project International Pain Foundation https://internationalpain.org/ Register for the International Pain Summit 2020 https://internationalpain.org/ipain-summit-2020/ iPain Living Magazine https://internationalpain.org/ipain-living-magazine/ Books by Barby http://barbyingle.com/books/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 052 Adam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story Adam “DadVocate” Johnson is a dad, diagnosed with Mitochondrial Myopathy. He blogs about his rare disease story, grief and experience on his blog, Owning My Story.  EPISODE HIGHLIGHTS How did you come to be a part of the rare disease community? When I was thinking I was a typical, healthy 35 year old, I got the flu that turned into pneumonia and bronchitis. I wanted to get back into self-care and working out and feeling better after that and I made a good push. I noticed during my workouts that I was struggling to push on. I knew something wasn't quite right. I had my first fall and knew I couldn't ignore what was going on any longer and that began a series of appointments seeing doctors and specialists. No results were populating red flags, but I was extremely fatigued and kept falling. A doctor did a muscle biopsy and that turned up a diagnosis of Mitochondrial Myopathy. Why did it take so long to get the test needed to get diagnosed with Mitochondrial Myopathy? Mitochondrial disease is difficult to diagnose and can take some time. After I was diagnosed, I found a support group and shared my journey. So many others in the support group shared the same experience and even went years before receiving a diagnosis. It's such a rare disease that it's not widely known and doctors don't have experience with it. Have you found a lot of other parents that have a rare disease? I'm still looking, but I've appreciated the support I've received from so many in the rare disease community. I notice a lot of groups of rare disease patients of rare disease kids, but I haven't found a group of parents with rare disease. I'm continuing to branch out and make those connections in this very specific niche. I'd like to talk to others who have had similar experiences. I have pretty specific worries and concerns that I want to connect with others on.  What are some of the moments that help you persevere when you're feeling defeated? My kids help me smile and push ahead. When I first received my diagnosis, my daughter was doing a science project in school on the human body. She wanted to choose mitochondria. I felt bad in the moment, but it was her moment to explore, learn, grieve and share with her classmates. That helped me push through and persevere because she made me feel like I had my own little advocate by my side. People in the rare disease community have been instrumental as well. I listened to the podcast episode with Taylor Kane and I connected with it so much. I'm appreciative of my family and others in the community that help me move forward. What has your family changed since you were diagnosed? It's changed a lot. It was a transition for me stepping back from work. The pandemic is adding an additional layer to things. It's a lot to go through for me and my family as I try to balance being home, being present and helping while taking care of myself. Before the pandemic, I was struggling to take care of myself and now it's an additional stress that's altered things quite a bit. A big thing is that I can't participate in things with the kids in a way that I could before. I found Brian Wallach on Twitter, was scrolling through and saw a tweet that read, "I just watched our girls roll down a hill giggling like crazy. A year ago I was rolling with them. A part of me seethed at the progression of my ALS and what it has taken away. Another smiled like a maniac, giggling as loud as our girls, grateful to be there." I felt that so much and I really connected with that. The paradox of balancing the loss and being present while trying to enjoy a moment is a challenge sometimes.  What lessons have you learned that you can share with others who are feeling alone as a parent with a rare disease diagnosis? I wish I had known when I was diagnosed that I wasn't the only one. I wish I understood that there was more to come after the diagnosis. It's still difficult when I think of things in the past and miss doing things, or miss my job. These things remain true, but I can move forward and find new things to do. If you're newly diagnosed, you're not alone. Any disease or challenge that comes up doesn't define you and it's not the end of you.  LINKS AND RESOURCES MENTIONED Owning My Story Blog https://rarediseasedad.com/owning-my-story-blogs David Kessler and Brené on Grief and Finding Meaning https://brenebrown.com/podcast/david-kessler-and-brene-on-grief-and-finding-meaning/ Dr. Marc Brackett and Brené on "Permission to Feel" https://brenebrown.com/podcast/dr-marc-brackett-and-brene-on-permission-to-feel/ Permission to Feel Book https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847 It's OK That You're Not OK: Meeting Grief and Loss in a Culture That Doesn't Understand https://www.amazon.com/Its-That-Youre-Not-Understand/dp/1622039076 Rare Like Us with Taylor Kane https://effieparks.com/podcast/episode-38-rare-like-us-with-taylor-kane Brian Wallach on Twitter https://twitter.com/bsw5020 CONNECT WITH ADAM JOHNSON Twitter  @RareDiseaseDad Instagram  @RareDiseaseDad Email  RareDiseaseDad@gmail.com Website https://rarediseasedad.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 051 Truncas Arteriosus - A Rare Form of Congenital Heart Disease with Sonja Voice Charlotte was born with a rare form of congenital heart disease called truncas arteriousis. After Charlotte was born, her mom, Sonja Voice, found support groups and found the hope she needed to advocate for Charlotte.  EPISODE HIGHLIGHTS Can you tell us about Charlotte? My daughter was born at the end of March with a rare diagnosis, truncas arteriousis. I traveled from my home in Seattle to Boston to deliver Charlotte so she could receive an immediate heart surgery at two days old.  When did you find out that Charlotte had a form of congenital heart disease? Charlotte was my first pregnancy, which was a typical pregnancy up until about 20 weeks. I went to an ultrasound appointment and they couldn't see the heart very well. At about 24 weeks pregnant, I went back for another ultrasound and they looked at the heart for a long time. I got a call from the doctor after she reviewed the ultrasound results and she told me to bring someone with me to discuss things further. I learned Charlotte had a hole in her heart and that I needed to meet with a specialist and seriously consider all of my options. I was given a fearful message, not one of hope. Two days later, another ultrasound confirmed what was wrong, and I was told that Charlotte had truncas arteriousis, where the pulmonary valve and aorta valve that don't separate. She needs a donor organ valve and will need a lifetime of open heart surgeries.  When you were given the options of surgery, terminating the pregnancy or doing nothing, did you know right away what you were going to do? I asked about the termination process. I felt like I couldn't win and felt guilty. I couldn't come to terms with how it happened. Once I realized what termination entailed, I decided quickly that I wasn't going in that direction. My husband reminded me that this was our daughter and we needed to give her a chance. So we decided we needed to find a place that was experienced in the surgeries we needed and we re-located to Boston.  How were you able to advocate, even when you were still pregnant with Charlotte? A couple friends had prenatal diagnoses for different conditions and their stories really empowered and informed me. I wish I had known how important ultrasound was. There's a lot of in utero surgeries they can do for prenatal conditions. I had an amniocentesis and realized that it's a great way to ensure you're setting your child up for a successful birth and ensuring you have the right specialists in place at birth. How is Charlotte doing and how is her development? She is doing so good. She's starting to talk. Her next surgery will be between 9 months and 10 years old. We've been working with Child Strive and she gets a round of services including early intervention, physical therapy and occupational therapy. We're looking forward to getting Charlotte a tongue and lip tie cut that they wouldn't touch when she was prepping for heart surgery because of an infection risk. Overall, she's doing really well. LINKS AND RESOURCES MENTIONED Remember the Girls https://www.rememberthegirls.org/ EPISODE 038 - Rare Like Us with Taylor Kane https://effieparks.com/podcast/episode-38-rare-like-us-with-taylor-kane EPISODE 040 - Physical and Emotional Well-Being for the Caregiver with Tyra Skibington https://effieparks.com/podcast/episode-40-tyra-skibington Child Strive https://childstrive.org/ Loving What Is: Four Questions That Can Change Your Life https://www.amazon.com/Loving-What-Four-Questions-Change/dp/1400045371 TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 050 Reflecting on 50 Episodes with Effie and Casey It's the 50th episode of the Once Upon a Gene podcast and Casey and Effie reflect on their journey, past guests, experiences and the stories that have touched them. EPISODE HIGHLIGHTS How do you think things are going? I am so proud of you. It has been so fun watching this start from something you talked about passionately, that you had no training in, that you had no real connections in, but that you wanted to do and you willed it into existence. It has been amazing to watch your dedication, the community and network that you've built. Have you had any favorite guests or stories from past episodes? I have had a bunch of favorites. Dan DeFabio and Bo Bigelow are tremendous, genuine and so good to listen to. Every once in a while there will be someone that says they're doing what they're doing in part because they heard the Once Upon a Gene podcast and that hammers home to me how much of an impact you're making. There have been a lot of wonderful people, stories that cracked me up and stories that were heartwarming and touching.  Has the podcast changed you? I tend to be more internal in handling stress, but it has changed things for me. Left to my own devices, I'm going to put my head down, take care of Ford and focus on our journey. Getting to see the way you've dealt with this and the pathways you've opened up, that has opened doorways to me as well. Now I feel comfortable dealing with and taking on more than just our journey and helping others with their journeys. Watching you do it so meaningfully has normalized it for me and allowed me to do it in a comfortable way. The podcast has also changed me in that I have a happy, fulfilled partner and that means everything. LINKS AND RESOURCES MENTIONED Me, My Sister and Blau https://www.rarediseasefilmfestival.com/work#/me-my-sister-and-blau/ The Disorder Channel https://www.thedisordercollection.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 049 Thanatophoric Skeletal Dysplasia with Ashequka Lacey Ashequka Lacey is a fierce mama bear to Jakobi who was born with thanatophoric skeletal dysplasia which results from a mutation in the FGFR3 gene. Thanatophoric dwarfism is a severe skeletal disorder, but Jakobi has as much strength and determination in his little body as his mom.  EPISODE HIGHLIGHTS Tell me about Jakobi. Jakobi is 18 months old and was born with a rare form of dwarfism called thanatophoric skeletal dysplasia. The gene mutation resulted in short limbs, a small rib cage and small lungs, so he is ventilator dependent. At 20 weeks pregnant, I found out there were abnormalities when I went for a gender scan. Another ultrasound was done to take measurements and although they weren't sure about what type of dwarfism Jakobi had, the doctor let me know that it was lethal and they advised I terminate the pregnancy.  What happened after he was born? The delivery was smooth. I did have a c-section because Jakobi was breech. His legs were too short to flip himself around. There were three teams of medical professionals at Jakobi's delivery and everything happened fast. Jakobi came out screaming, with a head full of hair, big cheeks and weighing 6 lbs. 13 oz. Jakobi was taken directly to Nationwide Children's Hospital upon delivery. Did Jakobi's birth bring a force out in you? It changed me because I went through so much emotionally. Once he was here, I needed to protect him. I also have a 10 year old, Ameir but he never needed me to protect him in the same way. Jakobi brought out a different side of me and I was determined to care for Jakobi, to see that he got the best care and to take him home.  What happened when you got to bring Jakobi home? Once he finally got to come home, it was doing everything I had already been doing at the hospital, just without the nurses. A month after he was sent home, he was re-admitted because his shunt had been exposed and he got bacterial meningitis. He was hospitalized for another month before he came home.  How has Jakobi impacted Ameir's development? It has matured him. He takes care of Jakobi, feeds him, calming him and ensuring he has the things he needs. He just refuses to change diapers. Ameir is a lover, he has a deep understanding and so caring when it comes to Jakobi. How has Jakobi changed you? Jakobi has changed everything for me. I don't complain about much, my world has taken a turn in terms of what I do for business. I'm more appreciative of the small things. I have an 18 month old who has had 6 surgeries, who is connected to a vent and he still smiles and lives his life. I'm a working mom, I'm a single parent, I've started two businesses and wrote a book all while having two kids. For me, it gave me a different type of drive.  Can you tell us about your book? I self-published a book called Jakobi and Me about Ameir and Jakobi from Ameir's point of view about having a sibling with special needs. It explains Jakobi's condition in laymen's terms and explains that even though Jakobi looks different, he's just like any other baby. You can purchase the book online.  What do you want people to know about your family? I want people to know that regardless of having a child with special needs, life goes on. Certain things happen that may come with challenges, but never give up. I've dealt with so much, but it has never been enough to keep me down or keep me from my dreams and what I want to do. Ameir gave me something worth living for and Jakobi gave me more of a reason to live and do things. LINKS AND RESOURCES MENTIONED Jakobi Bays IG https://www.instagram.com/babybays19 Jakobi and Me Book jakobiandmebook.com Jakobi's GoFundMe https://www.gofundme.com/f/jakobis-need Jakobi's Amazon Wishlist https://www.amazon.com/hz/wishlist/ls/A5HHKM6B3E2Z?ref TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 048 What is Chronically Surviving with Marcelle Longlade Marcelle Longlade is living with multiple rare diseases. Her platform, Chronically Surviving connects community, offers accessible yoga and other healing practices and services.  EPISODE HIGHLIGHTS Can you tell me how you became involved with Our Odyssey? I got connected with them before COVID hit, looking for ways to connect with others in the chronic and rare disease community, especially young adults. It was through a NORD newsletter that I found out about Our Odyssey's virtual meetups and checked it out. I've been a regular ever since and tried to get as involved as I can.  Had you been part of an advocacy or support group prior? I have been trying to breach the advocacy world. I've been a medical advocate for most of my life because my mom has a similar debilitating disorder and I've been a caregiver for a big part of my life. For the last three years, I've worked on my brand, Chronically Surviving. It's similar to Our Odyssey in that it's a collective network of peer support. I've been in chronic pain groups, but it's not for young adults specifically. Connecting with Our Odyssey has renewed my passion to raise awareness and advocate for young adults. Can you tell us about the rare diseases you're living with? My first major diagnosis was Familial Mediterranean Fever (FMF) which is a rare genetic and auto-inflammatory disorder. It's systemic and affects every part of my body. With FMF comes Cold Urticaria, which is an anaphylactic allergy to the cold. I also have a connective tissue disorder, diagnosed right now as Hypermobile EDS, but I'm doing more genetic testing now. I also have narcolepsy with cataplexy, a rare neurological disorder that causes me to be incredibly fatigued and I fall asleep without notice. This is generally triggered by emotional occurrences and any extreme emotion. I have Postural orthostatic tachycardia syndrome (POTS), PTSD, anxiety and social anxiety.  What affects you the most daily? I have a lot of symptoms, but the most debilitating are pain in my joints, neurological pain, migraines, fatigue and a lot of nausea.  Tell me about the shift from your biomedical engineer job.  It was rough. I remember that it was around Valentine's Day and I was already out of vacation and sick days. It was very corporate, I worked 70 hour weeks and it was high stress and intense. My employer wasn't accommodating at all, wouldn't allow me to work from home and so I went on short term disability. I didn't have a diagnosis at first and I was scared that I would be forced to quit my job or go back to my job. I got the FMF diagnosis in time for my long term disability application and I had to rebuild my life. I started to do yoga and it has been the best thing in my life- the gateway to the community I have around me now. It was a blessing that I got out of the rat race, that I'm not working crazy hours and that I'm an entrepreneur like I always wanted to be.  When you started yoga, did you know right away that you wanted to tailor your practice to the rare disease and disability community? I originally thought I was alone, so I planned to teach to the geriatric population. Then I started connecting with young adults in the rare disease community and realized I wasn't alone. From there, I realized the void in the yoga and meditation community for professionals who delivered classes in a safe and engaging manner for people with varied chronic physical or mental conditions.  What are you most excited about for the future? Connecting with people, especially since I've connected with Our Odyssey. Every meetup gives me so much fulfillment being surrounded by the community. LINKS AND RESOURCES MENTIONED EPISODE 036 - Anna Laurent on Alagille Syndrome and Her Road to Advocacy https://effieparks.com/podcast/episode-36-anna-laurent-alagille-syndrome One Rare https://onerare.org/ Our Odyssey https://ourodyssey.org/ Chronically Surviving https://www.chronicallysurviving.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 047 Ciitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter Nasha Fitter is the mother of three daughters, one of which was diagnosed with a rare disease called FOXG1. After her daughter's diagnosis, she got to work and co-founded the FOXG1 Research Foundation. She's dedicated to leading the research strategy and finding a cure for every child in the world with FOXG1 syndrome. She's here to talk to us about her work as the Director of the Rare and Neurological Disease Division for Ciitizen, a technology company that enables fast and seamless access to patient data. In this episode, you'll learn about the most innovative medical record platform that will be open and accessible to parents, caregivers, clinicians, academics, bio pharma and researchers. Their goal is to eliminate the slow, manual and expensive processes that are currently used to collect data.  EPISODE HIGHLIGHTS Tell us about you, your family and how you came to be a part of the rare disease community.  I have three children and my youngest daughter, Amara was diagnosed with FOXG1 syndrome when she was 9 months old, right after she started having seizures. Before that, I worked in education technology, but when this happened to Amara, my focus became her and how I could drive scientific research forward. I started the FOXG1 Research Foundation with a group of other parents and that has taken me along a journey where I came in contact with Ciitizen. I thought they were going to solve a need I was having within the FOXG1 community and that's how I became completely immersed in this research and community. Tell us about Ciitizen and your role there. Ciitizen is a platform that's patient mediated. Ciitizen collects all of your medical documents, digitize them and put them on a portal for you so you can easily access them and send them for second opinions. They have spent the last few years investing in machine learning and AI technology to read unstructured medical documents and extract data from them. This information in the aggregate can be used by academic researchers to further their research and understand disease progression and by bio pharma companies looking for natural history studies. Ciitizen is also working on clinical trial matching where patients can be matched to trials to be a part of.  How do you get started if you want to have medical records digitized? If you are a breast cancer patient, you can go to the website and sign up now. For other disorders, we're working with advocacy groups to build out the ontology, the framework of the disease. In the rare disease neurological space for example, we have started working on rett syndrome and mitochondrial diseases. We first engage with the advocacy group, get to understand the disease, talk to clinicians and invite patients to join the platform.  Can doctors, geneticists and scientists access the platform and perform their own search? The platform is free for clinicians and academic researchers who are the most excited about this program because they don't have accessible information about everyone in a rare disease community. Clinicians are finding this is a really easy way to look at data in a scaled way for a specific disease group. When you go to a clinician for a second opinion, they have to gather and sift through your prior medical records. Now they can use a neuro card where we have listed out all the critical elements with easy access to the records and get a good sense of data before your appointment. We're saving clinicians a ton of time.   If all these medical records are in this database, how do we protect our privacy? Ciitizen is HIPPA and GDPR compliant, all of your data is stored securely and with an audit trail. You own all the medical records, so no identifiable information can be shared with anyone unless you choose to share them. All Ciitizen can do is share your non-identifiable aggregated data, which means everyone in you cohort with a shared disease has aggregated information that can be shared with researchers trying to find a cure for your disease. The security is really important.  How can parents and caregivers help move this platform forward? It's a joint effort. We are onboarding SYNGAP patients next week and we have a partnership with that advocacy group to find a cure. Having advocacy groups is so critical. Within the rare disease community, groups need to centralize and come together. We're hoping to work with various advocacy groups to help them in a joint effort and to bring in patients. What is a natural history study? A natural history study is clinician-entered data that can be supplemented with patient outcomes. Traditionally, academic centers will conduct a natural history study, patients will travel every few months for doctors to collect information. The problem with the model of these natural history studies is that they're expensive, they decide who they share it with and what they do with the data. The beauty of a digital natural study is that data can be collected from anywhere globally, patients don't have to travel and the data can be shared with every pharma company interested in the disease.  What final thoughts do you have for parents and caregivers? The main takeaway for patients is that you have a strong voice and your data can go far. For advocacy leaders, it's your responsibility to gather your patients and create digital natural history studies. It's important for the community that you provide data that helps them make better decisions and that you're providing academic researchers and pharma companies access to data that helps your disease get on their radar. It's important for advocacy group leaders to take initiative and for patients and community members to contact your advocacy leader about a natural history study.  LINKS AND RESOURCES MENTIONED FOXG1 Research Foundation https://www.foxg1research.org/  Ciitizen https://www.ciitizen.com/ EPISODE 041 - Time is Brain: SYNGAP Research Fund with Mike Graglia https://effieparks.com/podcast/episode-41-syngap-research-fund The Patient Record Scorecard https://www.ciitizen.com/scorecard/ EPISODE 043 - David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action https://effieparks.com/podcast/episode-43-david-fajgenbaum CONTACT NASHA FITTER nasha@ciitizen.com nasha@foxg1research.org TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 046  A Family Plagued with Rare Genetic Disease, Adrenoleukodystrophy with Diane Kane If you haven’t listened to Episode 38, Rare Like Us with Taylor Kane, go back and listen to that episode here. Taylor Kane's mom, Diane Kane, had two toddlers when her husband was suddenly diagnosed with a rare disorder called Adrenoleukodystrophy (ALD). I'm in awe of her strength, grit and grace as a caregiver to her husband John, all while being a new mom, working and preparing for all the ways ALD would disrupt her family and change it forever.  EPISODE HIGHLIGHTS What is ALD and what are the symptoms? My husband was diagnosed with Adrenoleukodystrophy (ALD) a few years after we got married and he eventually passed away from it. ALD is a rare hereditary disease that we later found ran in his family. He also had a twin brother who later passed away as well. A couple years after we were married, I noticed John started acting differently, started leaving things around when he had always been neat and organized, his personality started changing, he'd stay up late and go into work late. There were a few times he said he was going to work, I'd call and he wasn't there. The symptoms came on slowly and given that I was pregnant and we had one young child, I thought it was stress or a crisis of some sort. We started going to marriage counseling where the counselor must have noticed something and suggested he get some tests done. He got a brain scan and it showed that he had ALD. What happened after the Adrenoleukodystrophy (ALD) diagnosis? The radiologist told us that ALD was a rare disease and referred us to a specialist. We saw a neurologist at the Kennedy Krieger Institute, a hospital that specializes in rare diseases. I researched what I could and everything I read said there was no cure and that nothing could be done. When we spoke to the neurologist, he confirmed my research-  that there was no treatment. The neurologist told John he has 2 to 3 years to live and to go home and enjoy the time he had left. How were you able to manage and cope with the diagnosis and life at that time? At first, it was so hard to grasp. I went about things as normally as I could and kept things as normal as I could for my kids. John went on the best he could as well. At the time, it was hard to tell how much he understood. I had a feeling that he didn't get it. He went to work, went out with friends and carried on with life doing his normal things. I had been working part time, but I worried he may lose his job so I hired a nanny and increased my hours at work to prepare for what may happen next. As my husband's condition deteriorated, it became hard to care for him and the kids, but with a lot of help I was able to manage everything and I couldn't have done it without that help.  What wisdom can you share with other caregivers? Accept help from people and don't feel guilty about it. It's good to take time for yourself and get away when you can, even if just for a few minutes. The people who stepped up to help me weren't who I thought they'd be in the beginning. You learn who your true friends are and they may be people you don't know. If you're in a caregiver role, advocate for yourself, take time for yourself and accept help.  LINKS AND RESOURCES MENTIONED EPISODE 038 - Rare Like Us with Taylor Kane https://effieparks.com/podcast/episode-38-rare-like-us-with-taylor-kane Rare Like Us https://www.amazon.com/Rare-Like-Us-Finding-Plagued/dp/1543978819 A RARE Patient Advocacy (un)Summit https://globalgenes.org/event/live/ Global Genes https://globalgenes.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 045 Two Disabled Dudes - Kyle Bryant and Sean Baumstark When I became a part of the rare disease community after Ford was born, I didn't feel like I had any community at all. After Ford was born, I felt less connected to my friends and I sought out a new community through podcasts because hearing stories made me feel connected. Sean Baumstark and Kyle Bryant, the hosts of Two Disabled Dudes podcast, both have Friedreich’s ataxia (FA). They have been an impactful resource in my journey and I'm so excited they're joining me. EPISODE HIGHLIGHTS Can you tell us how you became friends and connected as podcasters? We met through cycling, raising awareness and did a couple bike rides together, including The World’s Toughest Bike Race - Race Across America (RAAM). It starts in San Diego, California and ends in Annapolis, Maryland. A documentary crew followed us and that experience really brought us together.  What is FA? Friedreich’s ataxia (FA) is a rare neuromuscular disease that affects muscle coordination from the toes to the fingertips. It also has symptoms of scoliosis, diabetes, vision loss, hearing loss and life-shortening heart complications. It's a rare disease that affects about 1 in 50,000 people. The condition is dual recessive so both parents can carry the damaged gene, but there's no warning indicators that it will affect the children. The average diagnosis age is 5-15 years old.  Can you share the background of The Ataxian? The film is our race against time in the Race Across America. It's relay style and we had 4 cyclists. The team has 9 days to get from the west to the east coast with no time to stop. We used this race as an opportunity to call attention to FA and raise awareness about life in the rare disease world. Everyone on the team had one mission- to finish before the clock stopped.  Sean, tell us about your organization, Determinence. After being diagnosed, I started doing day hikes with friends to think, talk and wrestle with the new outcomes we thought life was going to bring. It was on one of these hikes that we realized a lot of other people in my community at that time were inspired because they knew I didn;t walk well and struggled with hiking and climbing. People were inspired to get out, which turned into a 5K, then a 10K and eventually a half marathon. This idea of helping people accomplish something physically challenging for them was the driving inspiration behind Determinence. Determinence is a non profit I founded with a mission to help people in the world of disability to climb mountains and cross finish lines. Supporters can donate to the cause or get involved with a team.  Kyle, tell us about your book, Shifting Into High Gear. All of my cycling adventures are documented through blog posts, articles and the documentary. My first ride from San Diego, California to Memphis, Tennessee wasn't documented anywhere so I worked with a writer to publish the book, Shifting Into High Gear. It was an amazing process, thinking about my experience, what it meant to me and what it may mean to someone else who reads my story. LINKS AND RESOURCES MENTIONED The World’s Toughest Bike Race - Race Across America (RAAM) https://www.raceacrossamerica.org/ Two Disabled Dudes podcast https://twodisableddudes.com/ The Ataxian http://theataxianmovie.com/ Determinence https://determinence.com/ Shifting Into High Gear https://kyleabryant.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - BONUS EPISODE Rare Together Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes Dan DeFabio and Bo Bigelow founded The Rare Disease Film Festival and have just created The Disorder Channel, accessible through Amazon Fire and Roku. Their work is connecting patients and families, raising awareness and inspiring a lot of conversations. Global Genes is having a virtual 10 day summit, September 15th - 25th, 2020. On September 16th, 17th and 18th, they're holding a watch party with Dan and Bo. This event is free for patients and advocates, so check it out! EPISODE HIGHLIGHTS Dan, how long did you think about creating The Rare Disease Film Festival and why did you want Bo to be a part of it? I previously ran a general interest short film festival. Partly because of the demands of raising Lucas, I stepped away from that and missed it. Talking to Bo about where to show rare disease films, there weren't a lot of options and we brainstormed what would make a better option. It wasn't out there and we created it. I met Bo in 2015 at Global Genes and was impressed with how proactive he was, even so early in Tess' diagnosis.  Bo, what did you think you could add to The Rare Disease Film Festival? I knew I wanted to make a film about Tess and Dan talked me into it. In general, I'm a person who takes action and when I say I'm going to do something, I figure out how it needs to get done, what I need to know and then I do it. As an attorney, I felt like I could be helpful with contracts, agreements and making sure we did everything right.  Tell me about the first festival you had. The first one was in Boston in 2017. We choose cities based on whether they're research hubs, if they have a lot of hospitals, have pharma companies and whether we can curate the audience. In addition to patient families, we want clinicians and people from the industry to attend so that they connect, lend support and share ideas. We sold out in Boston and we were surprised how much need there was and how well-received it was.  Bo, how did you feel after the first festival weekend concluded? I was wiped out. It was an emotional thing, meeting all of the people, seeing people tell their story in film and then meeting them in person. It blew me away. In every advocate's life, there’s a sharing process and I'm still going through that process of learning how to tell my story. I was also energized and couldn't wait to keep going.  Due to the most recent event in New York City being cancelled, where did the idea to pivot into a tv channel come from? We had been talking about a channel option prior, but when we couldn't do a face-to-face festival, we didn't want to move forward with a virtual event. When we looked at the option of moving into a channel format, we quickly realized the positive aspects such as having more films and longer films. We're getting great feedback and people are excited about the variety of things they can find on the channel.  How does someone create a film? There's a blog post on The Rare Disease Film Festival website about it. It's the basic beginner's guide to creating your own film and it's a good starting point. One of the shows on the channel, called Splice Site, is interviews with people who have made the films on the channel. They share tips and pitfalls that makes it less intimidating.  Tell us about the event with Global Genes that's coming up in a few weeks.  We have picked films based on themes that will resonate with people, like the sibling experience, new diagnosis and happy ending stories of cures. Our event will be at 8:30pm ET on September 16th, 17th and 18th.  LINKS AND RESOURCES MENTIONED The Rare Disease Film Festival https://www.rarediseasefilmfestival.com/ The Disorder Channel https://www.thedisordercollection.com/ Global Genes https://globalgenes.org/ A RARE Patient Advocacy (un)Summit https://globalgenes.org/event/live/ ONCE UPON A GENE - EPISODE 015 - Films and Fatherhood https://bit.ly/34xmJfH ONCE UPON A GENE - EPISODE 028 - Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival https://bit.ly/2YzhAQy How To Make Your Own Rare Disease Film https://www.rarediseasefilmfestival.com/blog/2020/3/2/how-to-make-your-own-rare-disease-film TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 044 A Mother’s Crusade to Find a Cure for Her Son - Amber Freed Amber Freed is the mother of twins, Maxwell and Riley. At a year old, Maxwell was diagnosed with a disease too rare to have a formal name, referred to as SLC6A1. When Amber was told nothing could be done, she decided to fight. She left her career that day and shifted her focus towards a treatment. She's a leader in the rare disease community and is the founder of SLC6A1 Connect. EPISODE HIGHLIGHTS Give us a little background on the beginning of your journey as an advocate? I was raised in a household afflicted by drug and alcohol abuse. I have two younger twin sisters and I filled the adult role in the house where it was needed. When I turned 18, I became their legal guardian. As a child, I had the weight of the world on my shoulders, but it gave me a tremendous sense of grit and determination.  Tell us about your kids coming into the world and becoming a mom. Riley and Maxwell were so loved before they were ever born. We went through two years of IVF to be blessed with twins. They were born a little early and were perfect. We brought them home from the hospital and everything was going wonderfully. At about 4 months old, I realized Maxwell wasn't doing the same things as Riley.  What started you on a mission to get answers about Maxwell's development? My pediatrician kept saying that boys are slower than girls. My mother's intuition said something was wrong. Riley was inquisitive, reaching for toys and exploring her environment. Maxwell seemed like he was just stuck in his body. From 4 months old to 9 months old, my pediatrician's tone changed. One of our first meetings was with an optometrist because we thought Maxwell couldn't see well. The optometrist confirmed that he could see. He explained that he had seen similar situations that were actually something wrong with the brain and that we would need to get genetic testing. It took about 6 months to get the results back and Maxwell just kept declining.  What were the results of the genetic test? We were led to a bad news room full of doctor's with sad faces. They told us Maxwell was diagnosed with SLC6A1 and I was so confused as to why it didn't have a name. They explained it was too rare to have a name and was only known by its genetic location. They knew nothing about the disease and they gave us an article that had been written about the disease. There are 7000 rare diseases and Maxwell is 1 of 34 people in the world with SLC6A1. We were left with the suggestion that Maxwell was too rare for anyone to care and to go home and enjoy him, that doctors couldn't help us.  Calling a scientist in Denmark was the beginning of your crusade. What has happened since then? The day we got Maxwell's diagnosis, I went back to work, resigned from my job and set off on this journey. I called people all over the world, read every text book imaginable and when I contacted someone that wasn't able to help me, I asked for three connections to other people who may be able to help. I kept doing that until I became an expert in the disease. I realized through my research that SLC6A1 is treatable and curable through gene replacement therapy. All of my efforts from that point forward were focused on gene replacement therapy. A scientist I had been trying to connect with finally called me back, explained that he was going to a conference and that he was too busy to talk, so I flew to the conference to connect with him. He explained to me that the technology existed to replace the gene, but that it was going to be a difficult journey and that $4M-$7M had to be raised.  How much money have you raised so far? I raised $2M of our $4M goal in a year and a half and it has already gotten us far. We completed the tests in mice, we've constructed the gene replacement therapy and the next steps are to file an initiation for a new drug with the Federal Drug Administration and begin the clinical trial to treat children. If we can raise the money and things go as planned, we'll be able to start the trial as early as next year.  What advice do you have for the listeners? Don't lose faith, don't lose hope, and keep trying because science is moving quickly. No one ever wants to join the rare disease community, but we're a group of close-knit and warm people willing to help each other. LINKS AND RESOURCES MENTIONED SLC6A1 Connect https://slc6a1connect.org/ Donate https://slc6a1connect.org/donate-here/ Contact Amber afreed@SLC6A1Connect.org TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 043 David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action David Fajgenbaum, MD, MBA, MSc, is a groundbreaking physician-scientist, disease hunter, speaker, and author of the national bestselling memoir, Chasing My Cure: A Doctor's Race to Turn Hope Into Action.  EPISODE HIGHLIGHTS Can you tell us about your diagnosis of idiopathic multicentric castleman disease (IMCD)? I was a healthy third year medical student at the University of Pennsylvania. Out of nowhere, I became incredibly sick and was hospitalized due to my kidneys, liver, heart and lungs shutting down without a clear reason why. I gained roughly 70 pounds in fluid and even had my last rights read to me because doctors were convinced I wouldn't survive. Thankfully, the right treatment saved my life, but I have since relapsed again and again. Idiopathic multicentric castleman disease (IMCD) is a rare condition where the immune system attacks and shuts down vital organs and systems with no known cause. It's hard to treat conditions when you don't know what causes them, which sent me on an odyssey to chase my cure. What were your symptoms and how quickly were you hospitalized? My first symptom was fatigue and it became so bad that I would have to lay down in seven minute increments between patients. I was so tired that I couldn't be awake for more than ten or fifteen minutes at a time. I then noticed lumps in my neck which were enlarged lymph nodes and fluid accumulating at my ankles because my liver and kidneys were shutting down. I had abdominal and chest pain as well. I put it all aside until it became too much. I thought I was dying.  How did you eventually get a diagnosis? After I went home, I wasn't willing to go back to normal and spent weeks pouring through medical records, even records from when I was a kid. In just a couple weeks, the fatigue came rushing back, a sure sign my disease was coming back. Within just a couple of days all the organs started shutting down again and I was back in the hospital. I had gotten out of the hospital after about 6 months, had gone back to medical school and was on an experimental drug. Then, a year later I relapsed again. I flew to Little Rock to see the world's expert on Castleman's Disease. I was immediately hospitalized and started chemotherapy. The doctor explained that I failed to respond to the only drug in development for the disease. There were no leads and no researchers working on a breakthrough. I realized there was no going back to a normal life unless I did something about it. I turned my hope into action so I could live my life. I studied my disease from every angle possible to figure out if there were a drug that could take it down- something already approved for treatment of something else. What incentives need to be in place to encourage researchers and doctors to explore drug repurposing? I am talking to you today because of a repurposed drug and feel strongly about doing what I can to get this concept out around other rare diseases. I don't think I've come up with any brilliant ideas but I think about it a lot. I helped to propose a bill to make it so that if a drug is approved for a common condition and the studies prove that it works for a rare disease, it gets an added 6 months of market exclusivity. That doesn't address all the drugs that are already generic. There needs to be a concerted effort that explores what drugs are out there that could be treatments and cures for diseases that don't have any. We need to think of creative ways to use artificial intelligence to predict drugs that are likely to help people and move those along to clinical trials.  At what moment did you realize you had found a potential solution for you? I was engaged and all I wanted was to make it to my wedding day. I had been in and out of the hospital so much that I wasn't looking for heroics. I wanted to find a drug that already existed that could get me to our wedding date. I went through all of my data, did experiment after experiment, reanalyzed data from every angle and I came up with a theory that MTOR, a communication line of my immune system, was contributing. There's a drug that inhibits that particular communication. Before I started testing it on myself, I did a final experiment to prove my hypothesis. I compared my lymph nodes to normal lymph nodes, repeated it a few times and proved to myself that my MTOR was definitely on. There were no guarantees, but there also weren't any other options so I shared the data with my doctors and they agreed that I was onto something. They wrote the prescription, I started taking the medication and hoped that I would make it to my wedding day.  You created a first-of-its-kind program in memory of your mom for young people grieving the loss of a parent. Can you tell us more about that? This is a reflection of the wonderful person my mom was. After she passed away, I found myself devastated. I wanted to put my sadness into something positive and told my mom before she passed that I would create something in her memory. When you make a promise to someone like that who you love so dearly, you go to the ends of the Earth to make that promise a reality. I talked to other people and was shocked when I learned how many people in my network had gone through similar situations. One of my closest friends' mom died of brain cancer two years before and had never mentioned it to me. It became clear that a big problem with grief is the silence we have. I started AMF, named after my mom, Anne Marie Fajgenbaum. AMF also stands for actively moving forward and it's open to any college student coping with the death or illness of a loved one. My best friend and I created a non-profit called National Students of AMF so we could spread it nationwide.  What can you share with people who are impacted by a rare disease that don't have a lot of patients, money or organization? If you are battling a rare disease or are caring for someone, the number one priority has to be on your battle. If there's bandwidth on top of that, then there are things we can all do to move closer to treatments. Get connected with a doctor or researcher to see what they need and how you can encourage them to move forward or start a fundraiser. Anyone can assemble a team to start making progress. LINKS AND RESOURCES MENTIONED Chasing My Cure https://chasingmycure.com/ Actively Moving Forward https://healgrief.org/actively-moving-forward/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 042 WSU ROAR - Responsibility, Opportunities, Advocacy and Respect with Lisa Henniger Lisa Henniger is joining me to talk about Washington State University's ROAR program, which supports higher education for the disabled and neurodiverse. Lisa's son Evan, who has down syndrome, has always wanted to go to WSU and follow in the footsteps of his entire family. Evan was among the WSU ROAR program's first cohort in 2018 which has been a dream-come-true.  EPISODE HIGHLIGHTS Can you tell us about your background and how you got involved in ROAR? Our son Evan has down syndrome and has always wanted to go to college. We downplayed that possibility until we realized there are programs for kids with intellectual disabilities. We learned Washington State University was interested in developing a program for students with disabilities— the ROAR program, which stands for responsibility, opportunity, advocacy and respect. When we learned they were developing the program, we were really interested in it and got involved. How does tuition work? Are there scholarship and grant options? There are scholarships and because WSU is a financial aid approved institution and the ROAR program is approved for financial aid, there's a possibility for financial support. Students in the ROAR program aren't given credit hours, there's a problem meeting the minimum number of credits for financial aid. They're still working on how to handle that. Was Evan one of the first students in the ROAR program? He was among the first five students accepted for their soft opening. It was successful and there was unbelievable growth through completing the program. In the second year, the program admitted another six students and they're building towards 10-20 students per year.  What is the daily program like? The ROAR program has a set of core classes including health education, financial literacy, job skills and preparing for the future. In addition, the program engages the student in person-centered-planning to draw out their true interests. Once they've identified a student's passions, they align WSU classes they can take for audit. Evan has a class in sports management because that's his major. He doesn't take the classes for a grade, it's pass fail, but he takes them to the best of his ability. He has class projects, group classes and takes class finals. How much has this experience changed Evan? Evan is far more capable than I thought. When you go through the application process, they interview the student and interview the parents separately. One of the questions for us was if we were able to let our child go, which in our case was about 350 miles from home. We wanted this so badly, we were willing to try. I didn't realize how capable Evan was of handling what life threw at him on his own. When we're around, his default is to turn to us to help, but on his own he has to handle things. The program staff are so good at realizing the potential of each student and requiring them to do things on their own. These kids have risen to the challenge. If Evan has a problem in the apartment, he calls maintenance. If his computer isn't working, he calls tech support. If he's not feeling well, he calls and schedules an appointment at the health center. I really had no idea he could do all of that and the level of independence he has is greater than I thought.  Will Evan get a proper graduation? He will get a proper graduation, walk with the rest of the university students, will have a cap and gown and will get his certificate. Were the teachers who are involved with driving this program special education teachers before? The two professors who were the original founders of the program and developed the curriculum were both experienced with these programs at other institutions. They and some graduate students taught the ROAR classes. Typical students are interviewed and screened as a process of becoming peer allies for the ROAR students on campus. This provides an opportunity to socialize and gives the students someone to go to the grocery store, games and other events with. The ROAR instructors are university professors, two of which are PhD students and the other classes are taught by the regular course professors.  What are your words of wisdom for parents and caregivers when planning for their child's educational future? Never sell your kid short. As parents, we worry about our kids— their safety, growth, their acceptance and bullying, but strongly consider options outside of your comfort zone and take a leap of faith. Find out about and consider the opportunities that exist and educate yourself on the options and resources available.  LINKS AND RESOURCES MENTIONED WSU ROAR Website https://education.wsu.edu/undergradprograms/wsuroar/ WSU ROAR Program on Facebook https://www.facebook.com/WSUROAR/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 041 Time is Brain: SYNGAP Research Fund with Mike Graglia Bo Bigelow and Daniel DeFabio have started a TV channel called The Disorder Channel where you can see all their rare stories in one place. You can access the channel with a Roku or Amazon Fire TV Stick. I had the honor and opportunity to narrate one of these films, The Foundations of Rare: The SYNGAP Research Fund and that’s how I connected with my next guest. Mike Graglia is a dad on a mission. His son is one of around 600 patients born with SYNGAP1, a rare neurological disease. Like many other rare disorders, like CTNNB1, SYNGAP1 affects the production of a protein. It's considered a spectrum disorder because all patients aren't affected the same way or to the same severity. After attending a Global Genes conference, Mike and his wife Ashley were inspired to turn hope into action and they founded the SYNGAP Research Fund. Their sole mission is funding research science for SYNGAP1.  EPISODE HIGHLIGHTS Can you tell us about Tony's rare disease and how it affects him? Tony has a SYNGAP1 mutation, affecting about 550 kids in the world that we know about. The gene was first discovered 20 years ago and the first diagnosis came 10 years ago, so most patients are under 10. SYNGAP1 is one of the many vital proteins in the brain and kids with SYNGAP1 have half as many proteins as they need. One copy of their genes has a typo and doesn't produce the protein. Tony has autism, sleep disorders, behaviors, seizures and intellectual disability.  When did you get Tony's diagnosis? Tony has a long list of diagnoses. SYNGAP1 kids either show up shortly after the age of 1 if they have severe delays and good doctors who perform genetic testing or at the age of 3 or 4 when they start having seizures. When Tony was 3, his delays were undeniable and we started therapy and we started seeing seizures, which led to an epilepsy diagnosis and then genetic testing. That's when we realized Tony had a SYNGAP1 variant.  When did you and Ashley decide to take action and do something when no one else was? We were introduced to Daniel Lowenstein who is the Vice Chair UCSF. He was patient with us, sending us to people he's worked with like Annapurna Poduri at Boston Children's who runs epilepsy genetics and Rick Huganir, an anchor scientist for our community and the Head of Neuroscience at Hopkins. We learned from them that SYNGAP is important and that we were lucky as a community to already have strong scientists. There was a lot of good research happening, a lot of open questions and that science was changing really fast. It was reasonable to hope that something could come along in a time frame that mattered to Tony. I wanted science to be working on a way to help Tony. Ashley and I decided to start a fund focused on investing in science. There were already smaller advocacy groups, but none funding the science.  Can you tell me about your mission of collaboration, transparency and urgency? Collaboration is about working together. We're aware that even if we raise $1-2M, it's not enough and we have to work across the parents community, scientific industry and industry to get this done. Collaboration has to be at the heart of what we do every step of the way. Transparency is about sharing information because you can't keep up in this highly-complicated space if you're not sharing as much as possible. Everything we can share is on our website for everyone's benefit. Urgency is simple- time is brain. Tony is 6 and I started this when he was 4. What I'm hearing is that we may have therapies by the time he's 11. Time is brain and we cannot waste time.  What would you tell a parent who is motivated and inspired to do something like what you're doing? The smartest thing Ashley and I did was to ask a lot of questions. Decide who your team is going to be and who you can learn from. Bring your community along and encourage them to support funding. Keep asking questions and keep building a team that can help get things done. Your energy and time is precious, so don't invest either until you understand how it's going to make a difference.  LINKS AND RESOURCES MENTIONED SYNGAP Research Fund Website https://syngapresearchfund.org/ SYNGAP Research Fund Blog https://syngapresearchfund.org/syngapblog SRF - SynGAP Research Fund, Inc. YouTube https://www.youtube.com/channel/UCtnPWPpqouMA_1UGOyu4W6A/ Global Genes https://globalgenes.org/ Contact Mike Graglia  mike@syngapresearchfund.org The Disorder Channel https://www.thedisordercollection.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 040 Physical and Emotional Well-Being for the Caregiver with Tyra Skibington Tyra Skibington lives in Kelowna, British Columbia with her family and she's the Founder of Mind Over Mat, a yoga and fitness studio. She's a superwoman in the world of emotional and physical well being and the mother to a beautiful girl named Darby. At 5 months old, Darby was diagnosed with a rare disease called Pallister Killian syndrome (PKS), a rare mental disorder that affects about 500 people in the world.   EPISODE HIGHLIGHTS Can you tell us about Darby and how her disease affects her? My daughter is 13 years old and was born with Pallister Killian syndrome. What that means for us is that she is a newborn in a 13 year old's body. The symptoms that primarily show up and the things we struggle with the most are extreme muscle tone issues, she's deaf, she's blind and she has seizures. She also has unique facial characteristics associated with the syndrome. When was Darby diagnosed with PKS? I had a child before that was neurotypical, my pregnancy was normal except migraines in the final trimester. When I delivered Darby, there was a NICU unit in the room just in case because her heart rate was dropping and when my water broke, it was a lot of water. Darby came out not looking great and they immediately took her to NICU where we spent 13 days being tested for everything. She had a bilateral cleft palate which was the obvious birth defect and they went from there. We got a scan of her brain and it was determined that parts weren't connected and she was missing parts. We didn't officially get diagnosed with PKS until Darby was closer to 5 months old.  How did you move forward into the world of self care, a fitness company and planning retreats? It's been a revolution. I am generally resilient, but Darby took my resiliency to a whole new level. We saw her fighting and pushing to keep going and that was our motivation to bring it. We're Team Skibi and we live by that and it's our family mantra. I felt like I lost control and Darby shined a light on the fact that I had control issues and that I needed to let some stuff go. She was the ultimate therapist for me. I couldn't control her diagnosis or prognosis, so I wanted to be the best advocate and mom for her, which means taking care of myself and focusing the control I needed to have on myself. Fitness has always been part of my self care, but I needed to find a community that felt like I felt. Mind over Mat came about from surrounding myself with people that were good and wanted to take care of themselves. The right people found me at the right time and it grew from there.  Tell me about Mind Over Mat I have a kinesiology degree and the human body has always been my passion. When I had kids, I diverted off the plan I was on, knowing I would come back to it. I had to stay home with Darby and drove myself crazy, so I had to get creative and find resources. We converted a space in our home into a fitness studio, I put myself out there and started developing classes. The next offering was a retreat for special parents that was planned for April and couldn't happen because of COVID, but it's put a focus on this community and how I can expand the offering. I believe as a special mom that you need to have people ahead of you and behind you on this journey. That's where Mind Over Mat is moving towards and I'm letting it happen organically through an online offering for now. LINKS AND RESOURCES MENTIONED EPISODE 029 - Put Your Own Oxygen Mask on First https://effieparks.com/podcast/008-tanjs-akayy-jr78y-ja2e8-zanza-njkxy-83esr-z2wkz-kx2a4-3zgjf-9n7e6-f4dl9-34pey-khhl4-plbpy-y5jw6-w4tay-9d7t9-4rf34-3ct68 Mind Over Mat  https://www.mindovermat.ca/ Family Support Institute https://familysupportbc.com/ Mind Over Mat - Facebook https://facebook.com/mindovermatkelowna Mind Over Mat - Instagram https://www.instagram.com/tyraskibington/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 039 Next Steps: A Journey Through CRPS to an Above-the-Knee Amputee with Whitney Lavender Whitney Lavender lives in Texas with her husband and two sons. I discovered her through her advocacy on Complex Regional Pain Syndrome (CRPS). She was taking a walk one day and had an accident that changed her life forever. The accident even led to the discovery of another rare disease she was unknowingly dealing with. Whitney has lived with excruciating pain for years, has been in the hospital alone during Covid and had her leg amputated while isolated from her family. Whitney is an awesome advocate and she's been so brave to share her story along the way.  EPISODE HIGHLIGHTS How did you enter the world of rare? In November 2017, a normal day, I fell down the stairs, went down on my knees and hit the concrete at the bottom. I knew in the moment that I had hurt myself pretty badly. I could walk, nothing was broken, but my leg was swollen and bruised. After going to the doctor, the MRI showed nothing, there was fluid on my knee that could be remedied with physical therapy. Nothing was changing except that I was getting worse and physical therapy was only making things worse. The orthopedic surgeon I was seeing suspected I had CRPS and suggested I see a pain doctor. Three months after the accident, we got the confirmed diagnosis and started trying other treatments such as epidurals, nerve blocks and spinal cord stimulation. Nothing was working and my leg was just growing larger and I started getting worse in a lot of other ways. I started getting headaches, had an MRI done, saw a neurologist and found out I had a chiari malformation that I was born with. My skull didn't form all the way and my cerebellum had herniated into my spinal canal and it was blocking spinal fluid from flowing normally. In August, I was diagnosed with Ehlers-Danlos syndrome (EDS), which is a tissue connectivity disorder where the tissues and joints don't function correctly.  After you were diagnosed and the treatment plan wasn't working, what was your mental state? For the first year, I was not on social media and I was in a little hole all by myself. I was desperate for connection, understanding and answers, but I went the first year alone. I went to the NORD Conference in Houston last summer and I met someone there who had my disease. She gave me a great piece of advice when she said my world just got a lot bigger, not smaller. I went home, stepped out of my comfort zone and got on social media. What happened was I found the most amazing community who opened their arms, embraced me and welcomed me in. It changed everything. I went from being alone and depressed to realizing the good that can come from this. When did you find the doctor that knew how to help you and what was that like? It was life changing. It was my primary care physician who found him. My primary care physician has been very involved from the beginning, has seen how this has progressed and evolved, and has learned along with me and grown as a doctor. I'm thankful to have him in my corner.  Did the two doctors formulate a plan to amputate your leg? Yes, my leg was amputated on April 20th. It was a big thing losing a limb. You don't go into something like that lightly. Behind the scenes, my husband and I had talked about this for a year before the conversation with the doctor because we wanted to exhaust every other option. When we got to that point, they agreed it was time. The leg was sucking the life out of me. My body couldn't self-regulate and it was done trying to stop the disease from overtaking my leg. For me, amputating my leg was the best course of action and I've gotten my life back in only two months.  After your leg was amputated, what has happened with your pain from before to now? After surgery, I woke up with a blanket covering me and before I couldn't have a blanket on my leg. I realized I didn't feel pain other than surgical pain and the CRPS pain was completely gone. I woke up from surgery and the chains that bound me for so long were gone. Two months later, everything has healed beautifully, the pain from surgery is less and less everyday and we're starting the prosthetic journey. How will EDS continue to affect you? It tends to make me more clumsy, so I've been working with my occupational and physical therapists on that. It's a concern moving forward and I don't want to have another accident. I'm cautious with my surroundings and my footing and I probably always will be. I'll have to learn to listen to my body, which I've been bad about my entire life, unaware of the underlying issue. I'll be focusing on allowing myself time and grace because it's going to be a new balance and new life moving forward in a lot of ways.  It’s not too late to register for the NORD 2020 Living Rare, Living Stronger Patient and Family Forum streaming July 18th-19th. There's a range of amazing speakers including doctors, patients, caregivers and researchers. There's also a live performance from the cast of Hamilton, so don't miss it! Register here.  LINKS AND RESOURCES MENTIONED NORD Living Rare, Living Stronger 2020 Registration https://rarediseases.org/living-rare-forum/ Whitney Lavender on YouTube - Whitscomplex https://www.youtube.com/channel/UCx6jr3lC4yvzjANASsKON1A TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 038 Rare Like Us with Taylor Kane ANNOUNCEMENTS Don't forget to register for the NORD 2020 Living Rare, Living Stronger Patient and Family Forum streaming July 18th-19th. I'll be on the parent panel on the 19th talking about stress reduction and caregiver well being. Register here.  Head over to podcastawards.com and nominate Once Upon a Gene for The People's Choice Award under the Society-Culture category. Disorder: The Rare Disease Film Festival was supposed to be held in May and was cancelled due to COVID. These films are important in connecting families and researchers across the world. Bo Bigelow and Daniel DeFabio, the founders of the film festival, launched The Disorder Channel. It's available for free on Roku and Amazon Fire.  I discovered the passionate and driven Taylor Kane through the book she wrote called Rare Like Us, a memoir about her loving father dying from a rare disorder called Adrenoleukodystrophy (ALD). It's an incredible story and captures the insurmountable obstacles families in the rare disease community face. She is also the founder of Remember The Girls, an international nonprofit organization that unites, educates and empowers female carriers of x-linked genetic disorders. She's recently been nominated for an award in the category of patient leader hero. You can endorse her nomination here.  EPISODE HIGHLIGHTS When did you decide to write Rare Like Us? I always had in the back of my mind that I would write a book and tell my story. I finally started my freshman year of college, very slowly. I did a lot of research, went through a lot of documents and had a lot of conversations with my mom which helped me to capture the time that he was sick. I was only three years old when he was diagnosed and he passed away when I was 5 years old, so I didn't have a clear memory of everything that happened in that time. I remember my dad being sick and when he passed away, but I didn't know all the details and all the ways my mom suffered throughout that time. The book took about three and a half years to write from start to finish and it was published in August 2019. Can you tell us about your dad's diagnosis? My dad started having small behavioral changes. He was very neat, talkative, outgoing and never missed a beat. My mom started noticing things like his desk getting messy, they were arguing more, and he was getting more forgetful. They started going to marriage counseling and the counselor suggested that he get an MRI of his brain because of the random behavioral changes. He got an MRI and within a few days was diagnosed with Adrenoleukodystrophy (ALD). There's no treatment or cure and he only had a few years left. It was all very sudden and out of nowhere. Looking back, he did have some of the physical symptoms such as walking difficulties.  What does it mean to be a carrier of ALD? ALD is an x-linked recessive disease which means it's carried on the x chromosome. Since my dad had it, I'm 100% a carrier of the disease because men give their only x chromosome to their daughters. I have a 50% chance of passing the disease down to any children I have in the future. Female children would be carriers and male children would get the disease. There's also a high chance that I'll eventually develop physical symptoms of ALD. Over 90% of carriers eventually develop symptoms. As of now, I don't think I have related symptoms, but that does increase as I get older. There was an assumption that since women have two x chromosomes, the healthy one would make up for the deficiencies of the one with the mutation. We know now that's not true and the same goes for all x-linked disease. Women have experienced symptoms as long as the disease has existed, but we're only just now getting into carrier related advocacy. In 2017, I formed my own nonprofit foundation called Remember The Girls, which is dedicated to carriers of x-linked disorders. It is one-of-a-kind and the only group that has ever brought x-lined carriers of different diseases together. We face a lot of the same issues with our symptoms being misunderstood and the difficulties that comes with having kids and alternative reproduction. We have about 30 or so x-linked diseases represented in our group, some more rare than others, and we have over 600 members from every continent in the world.  A big part of your organization is creating community and having strength in numbers. What are some other goals you have for the organization? Breaking the carrier stigma is an overarching mission. So many of us have been told that because we're just carriers, we don't have anything to worry about and it's frustrating. Right now we're focused on developing a provider network and  developing a family planning toolkit. The provider network will be a searchable database of carrier-friendly doctors, clinicians and mental health professionals recommended by the women in our group. The family planning toolkit will provide carriers with the options and resources available for having a family.  What are you most proud of with Remember The Girls? The organization is the only one like it that exists. We have a strong board of directors, a medical advisory board with three doctors and three genetic counselors and I think the organization is strong despite being new. I'm most proud of the awareness the organization has raised. As the leader of the organization and as an advocate, my own biggest accomplishment is when i get a message from someone who felt alone until they found the group. I get those messages and the world stops for a minute when I realize I've created something that people need and find comfort in.  What can people do to help your cause? Support Remember The Girls on social media. People can make donations to us to support our projects and help our organization grow. And spread the word about us to someone you know who is a carrier.  LINKS AND RESOURCES MENTIONED NORD Living Rare, Living Stronger 2020 Registration https://rarediseases.org/living-rare-forum/ Rare Like Us https://www.amazon.com/Rare-Like-Us-Finding-Plagued/dp/1543978819 15th Annual Podcast Awards https://www.podcastawards.com/ The Disorder Channel https://www.thedisordercollection.com/ Disorder: The Rare Disease Film Festival https://www.rarediseasefilmfestival.com/ WEGO Health Award Nomination https://www.wegohealth.com/Taylor3/awards Remember The Girls PayPal Giving Fund https://www.paypal.com/us/fundraiser/charity/2806211 CONNECT WITH TAYLOR KANE Remember The Girls https://www.rememberthegirls.org/ Blog  https://www.rememberthegirls.org/blog Facebook https://www.facebook.com/remembergirls/ Instagram https://www.instagram.com/rememberthegirls/ Twitter https://twitter.com/remember_girls TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 037 Founder of LakiKid: Sensory Tools for Home and Classroom with Jason Hsieh NORD, the National Organization for Rare Diseases invited me to be a speaker at the 2020 Living Rare, Living Stronger Patient and Family Forum on a breakout panel for caregivers. I'm going to be talking about stress reduction and emotional well being as a caregiver and I'd love for you to join virtually July 18th-19th, 2020.  Today I'm talking to Jason Hsieh, a local father whose son was diagnosed with autism and ADHD. There were limited resources and therapy opportunities in Japan at the time of the diagnosis, so his family moved to Seattle to get the help they needed for their son. He struggled to find affordable, quality products to help with his son's sleep, anxiety and sensory challenges so he created his own brand instead. LakiKid is a product design company and also a community of families helping each other through patient support groups and live Facebook seminars.  EPISODE HIGHLIGHTS How did your story begin in Japan? My special needs journey started in 2013 when my oldest son was diagnosed with autism and ADHD while my wife and I were living in Japan. In Japan and most of the Asian countries, the support and therapy you can get for kids on the spectrum or with any type of mental disability is very limited. It has to do with the overall culture and how most communities sync where mental disability is a taboo topic. People don't like to talk about it, they tend to hide it and parents don't like to confront it. It happened to me personally because the first 6 months after the diagnosis, I was in total denial and refused to believe something was wrong with my son because no one else had similar issues in my family. I refused to believe it. I run into a lot of parents, especially dads, that are in this denial phase. We as men like to fix things, but when you have kids with autism or ADHD, you can't fix them. You can help them to become better versions of themselves and that's why we decided to move to the United States in 2015 so we could find better resources and opportunities for our son to be successful.  Did you feel isolated and feel a need to connect with others in your community? Definitely. I can talk to my relatives, but none of them understand what I'm going through mentally. If you don't have a kid with special needs, you don't know what it's like. My son was non-verbal until he turned 6. We were doing a lot of speech therapy and now we're on the opposite end of the spectrum and he's talking way too much and can't stop talking. I didn't realize that I have mental disability myself. I started doing a lot of research for my son and the more research I was doing, the more I started to realize that I have ADHD myself. I was living with it all this time and didn't know what it was and didn't know how to deal with it. Can you tell us about your podcast and videocast? Ask An Autism Mom is done live on Facebook once a week on Thursday at 4pm PT / 7pm ET. We started with a focus on autism, but the more we do, the more we realize how other families and children can benefit from the resources. While the core of the podcast is around autism, we also share information that can be beneficial for parents who have kids with ADHD, sensory processing or down syndrome. Our goal is to inform and empower families so they can help move their kids along in the journey. Sensory Fitness Live is led by an Occupational Therapist who owns a business called Sensory Fitness. He had in person classes for kids before Covid-19, so we've partnered with him to turn his in-person classes into an online format with activities such as sensory diet.  Can you tell us about your company LakiKid? I started the company in 2017 because I was trying to figure out how to help my son and other families facing the same situation as us. Most of our items are low cost, ranging from $10-$40. I talk to teachers, occupational therapists and also get feedback from other parents on what products we provide. One of the new products we launched last year was a product designed for a nonprofit organization called KultureCity. They have many programs and one of the biggest is called Sensory Inclusive Initiative, available in NBA stadiums, football and baseball arenas, zoos, aquariums and airports. They provide staff training so they are aware of the sensory challenges individuals face when they visit a venue. They also provide sensory bags, free for families to access and use, which includes noise cancelling headphones, fidget toys and a weighted blanket. We designed the weighted blanket for them to use in their program. Lastly, KultureCity helps arenas to build out a sensory room that is a quiet, safe space for families to go to as needed. We have partnered with them and worked alongside them for two years and I really love their mission.   Did you have issues around the school setting that you had to figure out for your son or which inspired any specific piece of your advocacy for making schools more inclusive? The school system here in the US is so different and each city and district has a different setup. Some have more resources and some have zero resources. We have a really good IEP team in the district we are in and my son's special education teacher is really engaged in what my son is doing in the classroom. Even in the current situation with COVID, they are using Google classrooms, meeting daily with sessions for writing, reading and social skills. Unfortunately, not all families and school districts have the resources to have such a comprehensive program. By talking to other parents, I see that gap in the educational system. The US is ahead of the curve compared to other countries, but there is still a lot of work ahead.  What advice do you have for parents in the beginning of their journey? Be open minded to a diagnosis and talk to other parents. Join our support group, which is free to join. If you talk to other parents, you will find support because other families are facing similar issues. Each child has individual needs, but we're all sharing a common struggle.  LINKS AND RESOURCES MENTIONED NORD Living Rare, Living Stronger 2020 Registration https://rarediseases.org/living-rare-forum/ LakiKid https://lakikid.com/ Autism Parent Support Group https://lakikid.com/pages/autism-parent-support-group Sensory Fitness Live with Matt Sloan https://lakikid.com/pages/sensory-fitness-live Ask An Autism Mom https://lakikid.com/pages/ask-an-autism-mom LakiKid FREE Printable Social Story https://lakikid.com/pages/parents-survival-guide-to-coronavirus-covid-19#ebook KultureCity https://www.kulturecity.org/ Once Upon a Gene - Ep 019 - Neena Nizar and the Jansen's Foundation https://effieparks.com/podcast/008-tanjs-akayy-jr78y-ja2e8-zanza-njkxy-83esr-z2wkz-kx2a4-3zgjf TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 036 Anna Laurent on Alagille Syndrome and Her Road to Advocacy My guest today has a rare genetic disorder called Alagille Syndrome, which she was diagnosed with at 6 months old with no prognosis. Anna Laurent is a vivacious 20 year old living her best life. She's the Head of Programs & Initiatives at Our Odyssey where she helps to empower young adults impacted by chronic and rare diseases. If you know a young person with a chronic or rare disease, tell them to check out Our Odyssey.  EPISODE HIGHLIGHTS Can you share some of the excitement you've had in your life over the last 6 months? I am the first employee of a non-profit called Our Odyssey, which is something I'm incredibly passionate about and have been volunteering since last summer. They focus on supporting young adults between 18 and 35, impacted by rare and chronic illness to improve their quality of life and bringing in connection and community that's missing. It's exciting to officially be part of the team. I'm 25 and I wish something like Our Odyssey existed when I was in college because it would have made a huge impact on my journey through college and navigating young adulthood.  Tell us your story and about the diagnosis you were given as a child. I have Alagille Syndrome (ALGS) which affects roughly 1 in 35,000 to 70,000. It can affect all the major organ systems with a wide variety of severity. There are some kids who have multiple organ transplants at a young age just to survive. Some don't find out they have the disease until they have a child who has a more severe case and through genetic testing. I was born preemie and jaundice, wasn't gaining weight, failed to thrive and things weren't quite right. That was when the search for a diagnosis began for my parents. It took about 6 months to get a diagnosis after seeking help from 4 hospitals in 3 states. At that point, they had only identified one gene that causes Alagille Syndrome, I was tested for it and didn't have it. For many of us, there is a variation in our vertebrae where they're butterfly shaped. I was diagnosed through characteristics of the condition like the butterfly vertebrae and a liver biopsy.  What was it like growing up with a rare disease? In the grand scheme of Alagille Syndrome, my journey physically has been very mild. I'm most impacted by chronic itch, which feels like being covered head-to-toe in mosquito bites all the time. Other than keeping on weight, that was the biggest impact. I was also very small for my age, which my parents raised me to not view as a difference, but I was bullied by my classmates that pointed out my differences and called me names. My parent's empowered me to speak up and say what I needed to get past those instances. Middle school was the darkest part of my journey because mental health became a factor. It was then that it hit me that my life was really impacted by my rare disease. I realized I was never given a prognosis and I started paying attention at doctor's appointments and became sad and depressed. All of my friends talked about going to college and getting married like teenage girls do and I didn't know if I could do that. My depression started from the grief of what was taken away from me- a "normal" life just like every teenager wants. Then I found out my gene was dominant, which took away my dream of having a big, loud, biological, healthy family. When I was in middle school, we went to a symposium for my disease and I got to meet other kids with Alagille Syndrome and that's when the community and connection truly started to save my life.  What led you to become an advocate and to help other young people? When I was in college, I got heavily involved in my rare disease community. Looking back, it was a coping skill at that point because I couldn't control my disease, but could control what I did. I decided I was going to do everything I could while I could. If I am going to get to live so much longer than others in a rare disease community, I'm going to make it worthwhile. That has kept me going. It's not easy being an advocate. Being an advocate for myself is natural in my own rare disease community is pretty easy because I know a lot of people in it. Advocating beyond my rare disease is scary. I spoke at the first scientific meeting for my rare disease and it was through that experience that I found my experience and desire to make an impact is what keeps me going and helps me navigate.  What has been one of your most moving experiences so far? Six years ago, I connected with Shamy on Facebook, who is another young adult from India that has my disease. We both commented on the same post of a mother who had just received a diagnosis for her child and she posted about the grief and worry associated with it. I commented honestly that it was going to be hard, and wasn't going to get easier in a lot of ways, but that her child was going to live a fulfilling, amazing life no matter how long it is. Shamy also commented similarly and one of us messaged one another and the friendship blossomed. It was two years ago that Shamy and I got to meet in person for the first time. We have gotten each other through heartbreak, had started a private Facebook support group for young adults with Alagille Syndrome, we had lost two or three members within the first year of doing it and we had gotten each other through so many things. I will never forget being at the airport, running towards each other, sobbing and we hugged and didn't let go. It was four years of love, affection, anger and frustration in this one hug. It was one of the happiest moments that I would have never had if it weren't for having my disease.  Do you have any advice for parents? Remember, they're kids first. You go through the hardest and scariest parts of the disease for us at times when we're not able to communicate what's happening and that takes unspeakable amounts of strength. Remember that when we're older, able to make our own decisions, to have interests and hobbies, we're still a kid and we need to be able to do those things. Let your child live their life. Your kids will get hurt or do something stupid, but know that's not a testament to you as a caregiver or a parent, but a testament to your child doing something normal. Normalcy is so hard to find when you grow up with a rare disease. Validate and acknowledge that sometimes there aren't words for what you as a caregiver or your children are experiencing or feeling. Saying that can be helpful and help to empower your child to not know the words to describe what's happening. That no knowing is going to be a part of their life, so normalizing that is important. Cut yourself a break. There's no manual and you're doing the best you can. You know what's best for your child and that's all that matters.  LINKS AND RESOURCES MENTIONED Our Odyssey https://ourodyssey.org/ Alagille Syndrome Alliance  https://alagille.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 035 Sage Graves - Estate Planning, Guardianship, Special Needs Trusts Today we're talking about a really important topic- planning for our kid's future. Sage Graves is an attorney local to the Seattle area, here to share information about wills, estate planning, special needs trusts, guardianship and ABLE accounts.   EPISODE HIGHLIGHTS Share your background and why you've chosen this type of law to practice. This is my fourth year in practice and I graduated in 2016. I went to law school with the purpose of going into an all-encompassing field called elder law. Elder law also encompasses a lot of disability law and I was interested in this area of law after I graduated college and before I went to law school. I was working at an assisted living facility where it was an eye-opening experience for me around the senior and disability issues of vulnerability and exploitation. I felt like it was an interesting group to advocate for and where people need someone to be their voice and look out for their interests. In my practice now, I do a lot of guardianship work, estate planning and family advocacy. Being able to answer questions and be a source for families with questions, it's a really great feeling for me and something I really enjoy.  Let's cover the basics. What do we need to do? What do we need to think about? When should we do it? Why should we do it? What's the difference between the documents we should get finished for our kids? As a general matter, estate planning is always important. Generally the documents people should have in place includes a will or trust to dictate where your property goes upon your death, and a power of attorney to allow someone else to act on your behalf or represent you in some capacity. For parents of kids with disabilities, when it comes to preparing a will or trust, parents want to consider leaving assets to their children with disability in a special needs trust rather than leaving it to them outright. The purpose of leaving money to a special trust, which works as a form of protection against the inheritance, prevents any conflict of state provided benefits the child may be a recipient of. The child's share is left in the trust, which is included in your will, appoint a third party as trustee, and the money is held in the trust, available for your child's needs while still allowing them to maintain their state allowed benefit. Rather than the inheritance being spent down quickly on medical needs, it serves as a nest egg that they can use and benefit from for years into the future. The main takeaway for guardianship is if you're a natural parent to your child, there's no need to get any special authority from the court through a guardianship to make decisions for your child. The guardianship work I do is for when your child is aging into adulthood who may not be able to make their own medical decisions or handle their financial affairs. Guardianship is in place to appoint parents the authority to make decisions for your child, applying for benefits or managing finances. When planning, plan for the next 1-5 years and name the people you know and trust. Don't get wrapped up in planning for too many contingencies or looking too far ahead. Getting documents prepared should take precedence over trying to control every possible outcome and not getting documents in place for years. Can you tell us about ABLE accounts and how they differ from special needs trusts? The ABLE account is a newer option. For SSI, you can't have more than $2000 in un-exempt resources, like cash in a checking account. If a person can never have more than $2000 and SSI is about $750 per month, they cannot save or accumulate money. The ABLE account is a response to that. Achieving Better Life Experiences (ABLE) is the result of a federal law passed in 2014 that serves as a special account for people that receive benefits like SSI to tuck away extra money and still maintain their government benefits. The beneficiary, family members or friends can contribute up to $15,000 per year. The funds in the account do not count towards the resource limit for SSI eligibility. The ABLE accounts can be up to $100,000 without an impact on benefit eligibility, so it's a great option. You have to be determined by social security to be disabled before the age of 26 to use an ABLE account. A special needs trust and an ABLE account in estate planning is like comparing apples and oranges. You can't write a will and leave money to an ABLE account. You can contribute to the ABLE account during your life, but the special needs trust will be used after you pass away.  What opportunities do kids have for setting up college funds? A 529 plan is an option for kids with special needs. It generally would be considered part of the parent's estate. A family could set aside a significant amount of money dedicated to the child's education and could be put into what's called a third party special needs trust. It's a standalone special needs trust, funded by money that doesn't belong to the beneficiary and it operates like a special needs trust under a will except that you establish it during life. The idea is that money is set aside and prevents the funds from being available to the beneficiary and accounting against their ability to receive benefits.  What is the general cost for setting up a will and special needs trust? There's a cost benefit analysis people can do where it makes sense to spend money on estate planning because the downside is that a lot of fees can be incurred when you don't do planning. Most attorney's do estate planning on a flat fee basis, which for married couples is around $2500 for wills, trusts, powers of attorney and healthcare directives. For a single person, the flat fee rate starts at about $1200 and goes up for more complex planning. You can expect to pay half up front and the balance upon completion of the planning.  LINKS AND RESOURCES MENTIONED Sage Graves https://www.hickmanmenashe.com/sage-graves/ Contact Sage https://www.hickmanmenashe.com/contact-sage/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 034 The Ladies Behind the Edits I want my audience to know Erica and Devona, such a big part of my show. They make everything sound beautiful, put it all together and I'm grateful to have stumbled across them.  EPISODE HIGHLIGHTS What is it like to hear and to edit someone's conversations in their raw form? It's vulnerable to put something out that's personal and not the finished product. I have a personal relationship with everyone I work with that happens very organically over time. There's a lot of trust that goes into that. It helps that we enjoy listening to your podcast. If you're trying to edit something you have no interest in whatsoever, it makes our job a little harder. It's a major plus that your podcast happens to be something that we live daily and are interested in learning from you and your guests. The content is personal and relatable for us and there's value in it for us. Aside from the backend support is that we fall within your audience.  I posted in a Facebook group about wanting an editor connected to the rare disease or disability community and Erica shared with me about Cam. Can you share a little bit about him? We're integrated in this community through my baby brother who is 27. He was born in the early 90's and diagnosed with what was then just referred to as mental retardation. He's a grab bag of these acronyms and present day he's on the spectrum, not high functioning, he has hygienic issues, behavioral issues, communication issues and social issues. He's a large part of our life and we see a lot of those same things in Cam. It's worrisome at times because my brother got to the intellectual age of 8 and just stopped. It's a fear for us as moms that we don't know and we don't have a sure diagnosis. Every time we see a specialist, they add something else and we don't know what the projection looks like for Cam.  Have you thought about getting a genetic test for Cam? His most recent appointment was in December when he turned 4. She just wanted to take things slow. She said as long as he's physically healthy, we're working through his mobility issues through occupational therapy and he's happy and talkative- just let him be and let's see what happens. She didn't have a lot of advice because he's young and it's hard to diagnose things at his age. She wanted to monitor him and see how things go. We've never discussed getting a genetic test done on him.  How did you feel when the doctor told you to wait and see what happens with Cam? When we first started seeing issues with Cam, Erica was deployed overseas and Cam was about a year and a half old. We were standing in the parking lot when Erica was getting ready to leave. There was a couple standing across from us with teenage kids and they clung to their Daddy and were crying their eyes out and I said to Erica that I was so glad Cam was so young and wouldn't remember this. That first night, Cam would not eat, he wouldn't sleep and he fussed all night long. His vocabulary at that age wasn't incredibly developed, but he'd say basic words like ball, milk, car and Mommy. There was no verbalization for the first 6 months after Erica left. Cam resorted to pointing at everything. I knew something was wrong but his pediatrician disregarded the change due to the fact that he was under stress and didn't know how to cope. By the time I put my foot down in 6 months, his regression was so harsh that it was full-on therapy from then on out. I'm not as concerned that the specialist now wants to wait it out because her reasoning is that she wants to talk about ADHD, but it's too early.  Are you seeing more progression than regression now that Erica is back? Cam spent 13 months learning and not verbalizing because when Erica came home, he had a lot to say and he still has a lot to say. We've continued with therapy on an ongoing basis. Covid has made things difficult and we're not doing any tele-therapy at all because Cam doesn't have the attention span or tolerance to do it. We do behavioral therapy and occupational therapy and we've graduated from speech therapy.  What was it like for you to see Cam's development when you came home Erica? About three months after I left, his school started questioning things and pointing out that something was going on with Cam. At that point, I was defensive and I thought he was just regressing and upset because I wasn't there and that everything would go back to normal when I got home. It was frustrating and scary and I was in denial that something was actually going on. All I could do was hope everything was going to be okay when I got home. On a daily basis, Devona would tell me something else going on with Cam and it was disheartening having to be away and unable to be there for my family.  Did you feel pressure on your relationship when you realized Cam was having these issues? The pressure and stress we were already under from me being away when all this popped up and we just worked together and did what we had to do to get through it. When I came home, things were difficult. I came home from a year long deployment, was trying to reintegrate into society where I have to take care of myself and my family, feed myself, pay bills and things I didn't do for a year. That stress added to what we went through with Cam was difficult. Devona and I are pretty good about recognizing things before they get out of hand. Cam's challenges have not been marital challenges for us. It's been a rebuilding since deployment. There was a lot going on in life at that time. We;'re just enjoying life, we enjoy Cam, we have mutual passions and that's what keeps us bonded. Why did you make a career out of podcast support and what's behind your why? Effie, you have helped us to create our mission and we're doing what we're doing because you've inspired us to do so. We volunteer and like to get involved in things important to us, so as we tried to visualize what the business looked like and what it stands for, it became apparent that we wanted to work with people like you who are out doing the hard work, making waves, making people think and speaking to the people who aren't afraid to get out and make change happen. LINKS AND RESOURCES MENTIONED ModPod Studio https://www.modpod.studio/ Beck Center for The Arts https://www.beckcenter.org/ Special Olympics https://www.specialolympics.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 033 Loving Large: A Mother's Rare Disease Memoir With Patti Hall This episode is about the larger-than-life love that a mother has for her son. Patti Hall is the author of the book, Loving Large: A Mother's Rare Disease Memoir. In reading her book, I learned a lot about the rare disease called gigantism. I’m so grateful when people share their stories about the rare disease life because it’s so important in so many ways and you never know who will be touched by it.  EPISODE HIGHLIGHTS Why did you write this story? The idea didn't come to me. Early on when my son and I were discovering things together, he said we should start writing things down. As he aged, his opinion changed and he wasn't as interested in being involved, but it made me realize that what we were doing was so difficult that we could write it down and help people. I wrote to figure it out after we were over the most intense period, the first 15 chapters of the book. Knowing that I had to write the book was when we hit the wall that he couldn't be cured. I had to write just to figure out how I was going to endure this and go into a new normal that was never going to revert to before.  What is your son's diagnosis and what was happening in those early days? Gigantism is sneaky. It's the childhood form of an adult disease Acromegaly. Kids start to outgrow what their body had intended for them. What I was seeing was height in my son, but we were genetically tall and new there was a height predisposition. A pituitary tumor had been growing and active for years. During childhood, he was getting taller and taller. He was 6'5" at 15 years old. What I wasn't noticing was that his younger brother who was two years younger than him wasn't keeping up. He was sweating a lot, had trouble digesting food and beginning to have random headaches. He was progressively in more and more pain. Tylenol helped with his headaches, but the pain in his knees was stopping him cold. He was having trouble even walking because of the pain in his joints. His growth plates weren't closing, so the rest of his body was moving into adulthood but his soft tissue and joints were staying firmly wedged in childhood. A pediatrician put the symptoms together and diagnosed him. How long did it take to have a treatment plan? We got his symptoms dealt with pretty quickly. It was a couple weeks before a CT scan showed a massive tumor on his pituitaries, the size of a golf ball. Blood work revealed instantly that all his levels were out of whack, but you couldn't deal with the tumor or his extraordinarily high level of growth hormone any other way except surgery. We got him on medicine for digestion and headaches and better manage his symptoms, but the real problem was the rate his body was growing- about an inch every two months. The only way to stop the growth was to get the tumor out. My life became about finding doctors who could do this.  When you were searching for doctors and surgeons, were you finding they were intrigued or afraid to get involved? I didn't find anyone timid. It changed my notion of doctors and gave me a rude awakening into the rare world. Everyone wanted a piece of this and many doctors wanted to try to operate, but they had never done it before. One of the wonders of my story and Aaron's treatment background is that through a series of coincidences, I was able to get him to a surgeon who had done a surgery like this close to his age just a few months before. He was a surgeon who took care of my father after a terrible car accident years before and that series of events got Aaron dealt with quickly.  Was writing this memoir therapeutic for you? I'm a writing coach and I tell a lot of people that it will be healing, and it is. I'm still in this, to be honest. What it did was help me figure out what I've done. I don't know if I healed, but I learned about myself and I learned that I wasn't very kind to myself in all those years and took terrible care of myself. I made choices that weren't about me because all I cared about was my children. It's about forgiving, because we don't need it from kids, but we need it from ourselves because we're so self-critical. I unlearned how to look after myself and now need to re-learn, so maybe some of that will come up in a future book. What would you say to parents with young babies who are just receiving a diagnosis? I would say that you know your child best. Underneath the anguish is self-doubt, wondering if you should ask more questions, push harder, inject yourself into doctor's visits, ask for another opinion. The answer is always yes. You know your child best. You know their symptoms best. You know if something isn't right. An empowered parent who knows the symptoms, spots everything and doesn't know if it's connected becomes the diagnosis. If you get a diagnosis you're not happy with, that you don't feel like explains enough, and a treatment that isn't getting your child the comfort and quality of life they deserve, keep pushing. Back down for nothing. Teamwork is what got Aaron good care and in the end, they accepted that we had done our homework.  What would you say to parents like me who have a story to tell, but they aren't writers? I think everyone has a book in them. Find an awareness association to connect with others and find other families whose child has the same symptoms. Coping begins with conversation and books come later. Loving Large is my 6th book and I was already a full time writer. I had a blog before and that outlet was my way of managing. If your story is meant to be a book, you'll know it.  LINKS AND RESOURCES MENTIONED Loving Large: A Mother's Rare Disease Memoir https://pattimhall.com/loving-large-book/ Patti Hall Website https://pattimhall.com/ Patti Hall Facebook https://www.facebook.com/pattimhallwriter Patti Hall Instagram https://www.instagram.com/patti_m_hall/ Patti Hall Twitter https://twitter.com/pattimhall TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 032 Beyond Quarantine: Acceptance, Empathy and a Better Normal Dan DeFabio, Co-Founder of Disorder: The Rare Disease Film Festival is joining me again. He recently wrote a blog post about the connection the masses now have to the rare disease community surrounding the quarantine. A lot of families have dealt with these aspects of sheltering in and it hasn't been as unfamiliar as it's been for others. In this episode, I'm chatting with Dan about how the Covid-19 quarantine hasn't felt that different for families affected by this on a day-in and day-out basis. The isolation is familiar and real. Quarantining isn't shocking and isn’t unrelatable. EPISODE HIGHLIGHTS  You wrote a blog post that really resonated with me and I'd like to talk about that. What sparked that idea? In the early days of the shutdown, a friend posted how she was struggling and didn't know if she could get through the day and the next day. I started thinking if something in the rare disease community had prepared me for this and I realized this was new territory for everybody, but it's a little less new for anyone who has faced fatal illness, chronic illness or rare disease. Rare disease families have in some way adjusted their mental space to this reality in advance. Rose Reif said in a recent episode that the way to get through this is to lower the bar. I think it's great that you've become a lifeline to those who haven't been exposed to so much uncertainty. The way you've done this in the blog is a beautiful transformation. By now, we've all gotten used to talking about flattening the curve, and flattening the number of cases. In the rare disease mindset experience, we have another curve we've flattened, the fear of a disease or of a death. We didn't just start facing that in February 2020. We've faced it from our diagnosis day. For me, that's 10 years of the same amount of fear, spread out over 10 years. In the article, I referred to the Kübler grief cycle. I think a lot of people are stuck in anger or denial, but maybe we can come out of this with more acceptance and more of the positive attributes.  What has changed with everyone in quarantine that you hope stays around when things go back to normal? People have more time on their hands, they're maybe reflecting and reevaluating. Stress shows weaknesses, so what's not working we're able to better see. If we don't snap back fast, we can maybe take time to look at things differently and question how different they should be. We need to look at advantages and disadvantages and everyone equally. I hope all lives are worth saving and that leads to a better healthcare system where the medicine you can afford isn't the only medicine you get and where we take care of everybody. I feel like people have been forced to open up lately, that they're more vulnerable and I've seen empathy and understanding happening.  The rare disease club is a club no one wants to be a part of, but once you're in it you're in touch with people doing amazing things and they're inspiring people. Tragedy can bring out the best in people. In the midst of a global tragedy, it's bringing out the best of people and you're finding a commonality where we're all feared for our life or a loved one's life. A lot of compassion and generosity can come out of that. What further insight can you leave us with? Try to be okay with this. As it feels the worst, it won't last long. There are waves of bad times and not-so-bad times. Realize what you can let go of and be okay with it.   LINKS AND RESOURCES MENTIONED We Are All Rare Disease Families Now https://www.rarediseasefilmfestival.com/blog/2020/4/4/were-all-rare-disease-families-now How Parenting a Dying Child Changed All My Expectations https://themighty.com/2015/01/how-parenting-a-dying-child-changed-all-my-expectations/ EPISODE 027 - Therapy Check-in with Rose Reif https://effieparks.com/podcast/008-tanjs-akayy-jr78y-ja2e8-zanza-njkxy-83esr-z2wkz-kx2a4-3zgjf-9n7e6-f4dl9-34pey-khhl4-plbpy-y5jw6-w4tay-9d7t9 Dan DeFabio Facebook https://www.facebook.com/daniel.defabio.3 The Home Office https://www.facebook.com/daniel.defabio.3/videos/10159534528084606/ Your Only is My Everything - A Short Film about EDS Warriors https://www.youtube.com/watch?v=FkBD_FeAKhQ&fbclid=IwAR3fS__gRC2fgA_zWd2O-bxmzCXPs-GEY9VnJIQRciTXzO1L8khlGhYBR7E Disorder: The Rare Disease Film Festival https://www.rarediseasefilmfestival.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 031 Quarantine - What We're Missing, What We're Not, and What We Hope Sticks Around Synthiea and Effie are talking about what they miss, what they don't miss and what they hope sticks around post-covid pandemic.  EPISODE HIGHLIGHTS What we miss during quarantine. Synthiea is missing hugs. Human touch is a big deal whether people like hugging or not. Effie misses her favorite Mexican restaurant that she sneaks to when she says she's going to Target. They miss their close girlfriends. Synthiea's three closest friends from high school go to brunch for everyone's birthdays and they've kept a standing Zoom meeting on Wednesday evenings. One of the girls is a yoga teacher who does a mini yoga session and then they sit around and chat. It's been nice to see each other every week instead of four times a year. Synthiea and Effie are both missing haircuts. Ford is missing the school bus and his horse, Gigi. What we don't miss. Effie doesn't miss how hard it used to be to get on friends' calendars when you wanted to hang out. Now you can find more time to connect through facetime. They don't miss traffic. And they don't miss hard pants. Effie doesn't miss not being able to go to the playground, especially since Esme has started walking during the quarantine. What we hope sticks around after quarantine. Synthiea hopes working from home sticks around. Effie hopes people continue to be flexible and patient. She also hopes people continue to understand what families who have children with compromised immune systems are going through, especially those who have been on lockdown several times before for health reasons. Synthiea hopes the neighborliness sticks around and that everyone continues to be outside more. They both hope that people continue to show respect by wearing a mask in public. TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast

ONCE UPON A GENE - EPISODE 030 Trust Your Instincts; An Early Intervention Can Save Your Life Anjela Yumel lived through a natural disaster, relocated to the US from the Philippines, was without her mother for a year, took on the responsibility of caring for her siblings, became a single mom, had a medically complex child Jaela, who was born with Hurler Syndrome. She's amazing and I'm honored to share this story with you.  EPISODE HIGHLIGHTS Tell us about yourself and your daughter. I was born in the Philippines and came here to America when I was 9 years old. To me, that was a big deal. I had to grow up fast because my mom didn't come with us from the Philippines for the first year and I had to take on the responsibility of caring for my siblings. I didn't see my dad because he worked three jobs. Finally, my mother came and we were so happy and I could be a kid again. I had already learned so much about life already and had a different perspective from coming to America. When I finished high school, I had a dream of doing more for my life. I finished school and became a nurse to respect my parent's wishes. At 22, I became pregnant with my daughter. At that age and not being married, coming from a Catholic family, it was a huge deal for my family. I kept my daughter because despite discussions around abortion. When my daughter was about 2 months old, she had flu-like symptoms where she had congestion, coughing and high fever that went on for about a month. I was worried, so I took her to the doctor and she said she was fine. They checked for food allergies, which came back normal. When my daughter was about 4 months old, I was giving her a bath and noticed a lump on her lower back. I took her to the doctor again and they explained they'd have to do an MRI to explore what the lump was. For a 4 month old baby, having an MRI isn't the best thing and would cause a lot of complications. We didn't do the MRI and we did x-rays which didn't show anything. We saw the ENT doctor about her congestion and breathing issues. I found out she had large adenoids, which at the time wasn't necessarily abnormal for her age. When my daughter was about 6 months old, I was putting her to bed and her fever was so high and she was fussy. I had to give her a suppository fever-reduced because her fever was 103 degrees. She started to have a seizure in her crib and I took her to the ER right away. She was admitted to the hospital, they did all the testing, nothing came of it and I came home without answers. We followed up with the neurologist and everything was normal. I was talking with a co-worker who suggested I see the doctor her kids were seeing and I decided to try. I wrote her a long email before our appointment and she made referrals to specialists. I was comfortable and she did whatever it took to get to the bottom of what was going on with my daughter. A month after seeing her, when my daughter was 8 months old, she was studying and researching and noticed a lot of hair on her back. Because there was so much and it hadn't fallen off as it typically does for babies, she suggested I take her to a geneticist. Right away, the geneticist said that my daughter had Lysosomal Disorder. She sent the blood tests off and it was over a month later before we met with her again to go over the results. She gave us the news that my daughter had Mucopolysaccharidosis (MPS I), which is Hurler Syndrome. Hurler Syndrome is a very rare genetic disorder that caused her to be born without enzymes in her body and that it could lead to enlarged heart, enlarged liver and enlarged brain. Without treatment, it can cause death and there's no cure for the disease. The next day, we started an enzyme replacement therapy. In the coming weeks, we worked to find a match for her for bone marrow or cord transplant. Three months later, we found a match, a 37 year old white male from Michigan.  How did you get the bone marrow donor match? Kaiser South Bay connected me to the children's hospital in LA. They were able to find a 100% match for my daughter. They told me it may take a year or two to find a match for her, but through prayers we got the call that we had a match only three months later. We did a bone marrow transplant at the children's hospital in LA for another three months. After three months, she was 100% engrafting, so she was discharged and continued the enzyme replacement therapy after that. She's 11 years old now and she still does that once a week.  Was there any type of isolation you had to do before, during or after the bone marrow transplant? Absolutely. We were already isolating her while we were waiting for the match. We isolated her from kids for four months, much like the quarantine now. After she got out of the hospital, we isolated her for another 4 months before she was able to come out. If we had a doctor's appointment, she would have to wear a mask.  What do the fusions entail? Does she have to have them every week for the rest of her life? Since there's no cure for Hurler Syndrome, the infusion therapy slows progression. The bone marrow transplant prevented anything from affecting the brain and heart. The ongoing infusion therapy slows and possibly prevents the disease from affecting her bones, heart and liver. How has this experience affected your daughter developmentally? She's a normal kid and she goes to a normal school. She's much shorter than her friends, which gives her anxiety. We see behavioral specialists to work with her in a positive way. She does have an IEP, she's not a fast learner and has trouble learning and her attention span is very short. Will your daughter have to have another bone marrow transplant at some point in her life? The doctor told us that because she was 100% matched, that she wouldn't likely need to have another transplant.  Share how you've changed your career to give back. Our donor was random and I'm thankful for him. He's the reason I want to give back more and the reason I quit my job as a nurse to start my financial business. I loved being a nurse, making an impact and helping people and there was a reason for being a nurse at the time that I was when my daughter was young. When my daughter got out of the hospital, I connected with my brother, who is entrepreneurial minded and good with finances to get advice. He connected my with a top advisor who mentored me and saw the potential in me to connect with people. It's your story that sells. Facts tell and a story sells. People related to me and I wanted to protect my daughter for life if something happened to me. I love helping families to protect their finances and plan for their future, life insurance, retirement and long term care. The proceeds of the commissions I make goes to the Jaela Foundation to fund the research for a cure of MPS.  What would you say to the parents of complex kids who can't create the bandwidth to think about the part of the future of caring for our kids when we're gone? I'm all about self-care and personal development. Throughout those times that my daughter was going through everything, I had a journal that I wrote and that helped me put my thoughts and feelings together. No one is alone. You're not alone in this. I found out as a young, single mother, that when I took care of myself, I took care of my kid. Just like in an airplane, you have to put the mask on yourself before you put a mask on your kid. I figured out early to write in the journal, focus on positive affirmations every day, writing about what I'm grateful for. My daughter is my inspiration every single day. Whenever I see her getting frustrated when she does her homework and she does it again anyways, or when we go out for a walk for PE because she's limited in her physical activity and I see her run and try and never give up, it makes me want to become even stronger. It teaches me as a parent that I can do it all with the abundance vs. scarcity perspective.  LINKS AND RESOURCES MENTIONED Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ National MPS Society https://mpssociety.org/ Jaela ’s CaringBridge Journal https://www.caringbridge.org/visit/babyjaela/journal TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram Built Ford Tough Facebook Group  

ONCE UPON A GENE - EPISODE 029 Put On Your Own Oxygen Mask First My sister, Christy Foster is a CranioSacral therapist, pioneering educator, speaker and mentor in the field of body-mind integration. She specializes in teaching health and wellness practitioners on how to interpret the subconscious language of the body. Her mission is to empower and create self-awareness. Christy is joining me for a sister chat on ways to take care of ourselves and pay attention to the ways our bodies tell us to check in.  EPISODE HIGHLIGHTS Tell us about what you're doing in your work now. I've been doing a mixture of education around helping people understand how their bodies are put together- our histories, stories, how we grew up and things that have happened to us. My fascination and passion is about understanding why these things show up in our physical structure, our body and flesh. Some of the components that make us tick are positive and some can cost us energetically on a physical and emotional level. I love looking at the body and psyche and what's creating energetic hemorrhaging when people feel like something is happening, they don't have the capacity left to function or they're hurting all the time. I look at the pieces of their system and their story to figure out how to make movement forward and make it easier for them.  What are ways to recognize, manage and avert the stress and anxiety that stems from the quarantine? When you crack, ask yourself what that looks like because if we don't have something to measure it by, we're not sure when we're cracking until after we've cracked. Ask yourself what "cracked" looks like, feels like and sounds like. Get a piece of paper and draw four oxygen tanks to represent four things that are must-do's. If you notice you're starting to crack, turn to this and check to ensure you've done the 4 things that help you to not crack. These things should be along the lines of eating something healthy, drinking water, going to the bathroom, getting outside or deep breathing. These needs shouldn't be negotiable. As parents, it's easy to put yourself last all the time, so think of your body and psyche as a container where there are holes- things out of our control. When you check your oxygen tanks, determine if there are holes and how you can fill up the space. Why does it make such a difference to acknowledge where my feet are and how they're positioned? Our feet are the first thing that touch the planet in the morning. How we walk and how our feet are means something. If you check your feet and your right foot goes out, you tend to be a person who thinks, processes and analyzes most everything and tends to be in your head a lot. By bringing the right foot straight, parallel with your left foot, it forces you to come back into your body and helps you notice that you are out of your body and thinking too much. If your left foot goes out, you tend to be more of an emotional person. When you bring your foot in, parallel with the right foot, you're telling your body that you're paying attention and it grounds you. A lot of our kids have gone from important schedules that support their well-being to everything being cancelled. Can you recommend exercises and ways we can help our kids with their anxiety? One of the most important things is having a routine. Our bodies are trained to respond to certain stimuli like smell, sound and light. I suggest finding an essential oil that you use for nap time and bedtime to settle their nervous system. You can also put a dot on their feet. Have the same kind of music playing and dim the lighting to get them to settle down. You can rub their feet or rub your hands together and put one hand on their back and one on their chest- called direction of energy. This is a polarity technique that works with the energies in the body and you can do that anywhere on the body. One of my favorite meditations for children is by Christiane Kerr, called "Bedtime Meditations for Kids". Her meditations are very slow, child-like, has music and she takes them on a little journey.  What is the importance of language in needing to check-in? Language has power with it. If you notice you're using language such as "I have to do everything on my own" or "I can't do this because I'm too overwhelmed", it's an indication that you need to look at your oxygen tanks. Create a resource list for yourself that includes calling a friend, going on a walk, reading a book or having a piece of chocolate- whatever  supports you in a moment. Sometimes we believe we don't have resources, so creating a list of resources helps in these moments. In the moment that you're cracking, it's very hard to think who would help if you reach out. People love helping in whatever capacity they can. What can you leave us with for mindfully getting through our day-to-day? Drink water, go to the bathroom and go outside and notice your breath. Resource yourself and do it mindfully. Self-care for you Draw four oxygen tanks and put the simple, high-reward activities or thoughts in them Focus on each oxygen tank at least once per day Pay attention to the language behind your thoughts to identify when you need a resource Caring for your kids Use smell and music to create a routine Use touch to help them settle their bodies LINKS AND RESOURCES MENTIONED My Intuitive Body christyfoster.co Bedtime Meditations for Kids https://amzn.to/2LjKnSl TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast

ONCE UPON A GENE - EPISODE 028 Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival Bo Bigelow is the co-founder of Disorder: The Rare Disease Film Festival. He's joining today to talk about life in quarantine and his beautiful daughter Tess, who inspired him to produce a podcast, Stronger Everyday.  EPISODE HIGHLIGHTS Can you give us a background on yourself? My rare disease journey started when my daughter Tess was born 10 years ago. After years of looking, we found she has a very rare genetic disorder called USP7. At the time we got her diagnosis and found out about other patients in the world, we knew that she was patient #8 at the time. My wife and I decided to do something to help Tess and to help the other kids with USP7. We created a foundation with other parents with the goal of finding other patients. It's been an interesting journey and a big pivot in my life. Caring for Tess, working on the foundation and rare disease has become a big part of my job.  How has it been for Tess and your family since the quarantine began? Under normal circumstances, Tess loves school. She seems to be okay with the quarantine for the moment. A lot of the resources that her school has shared with us makes a big difference because we're able to carry over the songs and activities. The continuity has made a big difference. Her school has stepped up in a huge way sharing videos, songs and ideas and it's made all the difference.   Do you feel the social aspect of school is as important as other learning? There are years where Tess had vision and cognitive issues that lead us to wonder if she knew who was in the room with her, if she cared for people around her and if she felt friendship and love in a way others can see. It's hard to tell sometimes. In the last few years, she's really turned a corning in terms of the social piece. Although she's doing well at home right now, I know she's missing the social piece and she's thinking about her friends and wondering when she'll see them again.  What are some of Tess' health issues and why's it especially important for her to be home? We are in the land of the unknown with USP7. It's so rare and so little is known about it that all we really know is how it affects various systems. We know she has GI issues, which is affected by covid-19. What we don't know is how Tess' system would respond, but we know it wouldn't be good. We can't rely on her to cough things up and deal with congestion issues because she doesn't know how to do that, so we really don't want her getting sick.  Before quarantine, what were your typical outlets? That's really important, especially if you're dealing with someone with significant disabilities and a lot is asked of you. It's important to have something to do that has nothing to do with them. Exercise has been a really big one for my wife and me. For me, film is also a big outlet. It's hard to think about what you like. It takes time to re-discover what you love, but it's critical to do. With your foundation, is it more about finding community or treatments and cures? It's all about research and finding other patients is a piece of that. The more people we find, the more we'll know about the phenotype and symptoms. I'm a big believer in community, but it's not what we do. We're raising money to fund research and get to a cure. We have a Facebook group for parents that's not so much about our foundation, but serves as a community for the parents.  What do you suggest for people who are searching for others with a rare disease and feeling alone in their diagnosis? That's a hard place to be and I remember that feeling. You're going to get comfortable talking about the disease and you're going to be as loud as possible in as many ways as you can find. Getting on Twitter is a great thing to do. If you're the only one in the world, there's a method this guy named Matt Might came up with. His method is how we found our group when we thought Tess was the only one in the world. Matt had this specific way to write a blog post to be an internet beacon that people will find when they search online for symptoms. If you're a small group of patients and know there's others, there's a lot of value in being vocal and getting out there because people often get a diagnosis and they stop searching for other pieces of a bigger picture. Creating a film is effective if you want to put that out and ask people to share it.  How have your goals and your focus changed over the years since having Tess? For many years, it's been about communication. For a long time, it was about getting her to walk and we were only focused on that. After Tess learned to walk, we shifted our focus to communication because we know she wants to communicate and she gets frustrated when she can't. That's been our priority for a few years now and we look at it in terms of making progress and not comparing.  What wisdom do you have for other dads, male caregivers and families who have just received a diagnosis? I think we need more dads. I know they're out there and when I'm able to connect with one, I'm always really happy. It's hard to talk about this stuff and it took me awhile to be able to talk about, but I found it empowering once I did start talking about it. The more dads to get involved, the better. I think everyone needs to know that this is a small world. When you start talking about your disease, going to conferences, blogging, podcasting or whatever thing you're  doing to work on your rare disease- once you start doing it you see the same people popping up. Everyone is open, ready to get on the phone or to meet up. People want to help and they don't want to see you recreate stuff they've already created and they're willing to share. Just ask and you'll be surprised what people are willing to do to help.  LINKS AND RESOURCES MENTIONED Disorder: The Rare Disease Film Festival https://www.rarediseasefilmfestival.com/ Episode 15: Films and Fatherhood with Daniel DeFabio https://effieparks.com/podcast/008-tanjs-akayy-jr78y-ja2e8-zanza-njkxy Stronger Everyday Podcast http://www.portlandrootsmedia.com/strongerpodcast Discovering new diseases with the internet: How to find a matching patient http://matt.might.net/articles/rare-disease-internet-matchmaking/ Foundation for USP7 Related Diseases https://www.usp7.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast

ONCE UPON A GENE - EPISODE 027 Therapy Check-in with Rose Reif My next guest, Rose Reif, is a very special therapist with over 20 years of experience helping people with disabilities and their families. Imagine talking to a therapist who knows your language and the jargon you use- it's comforting to know someone like her exists. She has so much understanding and her approach to mental health for our world is gentle and insightful.  EPISODE HIGHLIGHTS Tell me about what you do and why you do it. About 17 years ago, I graduated from the University of North Carolina and I was working as a case manager in an independent living department of adults with a range of disabilities. I loved the role and work, but I found there weren't many mental health services geared towards adults with disabilities. When I recognized the need, I went back to UNC, got through grad school and started a counseling practice. I originally intended to work with adults with disabilities, but I began receiving calls from parents who wanted to see me as a parent trying to support their child. All this time later, my practice is about 50% working with adults with rare genetic orders and 50% working with caregivers, parents and siblings. If you have a disability or love someone with a disability, you're welcome.  What are some warning signs that we should be looking for to indicate we should seek professional help? Parents often say that they've pushed and pushed for a finish line that was never there. This isn't a sprint, it's a marathon. Ask yourself if something could be easier, if you can be handling things better and if you could use new skills and supports? What are some simple tools or reminders that we can use when trauma and worry becomes too consuming? You cannot pour from an empty cup. You cannot keep pushing and trying to give everything you have to everyone else, to hold it together, to be the glue for your family because at some point your cup is going to crack. Parents get stuck sometimes and I always encourage a mindset shift. It could be running, yoga, scrapbooking, watching old movies-- do something that makes you feel better. The key is to believe that it's important for you to do it every day. You likely weren't expecting this in your journey as a parent or in life, so think how you can incorporate that but also keep this trajectory going.  Is there a common thread among the adults with disabilities that you talk to that we as parents can change now? Depression at a fundamental level is being stuck in the past and anxiety is being stuck in the future and unable to focus on the moment. Among a lot of the young adults I work with, their parents tried to shelter them from making difficult decisions or having to do things for themselves. With the parents I work with, I'm a big proponent of taking little steps today to help their child be independent one day. Be intentional and think about giving your child some opportunities to do for themselves and accept that it won't be perfect. In the long run, it will give them more sense of control, confidence and self-worth. What are your top tips for parents who need to create boundaries? A lot of people feel that stress but aren't brave enough to set the boundary and be willing to miss out on something. Compassion fatigue is what we call a vicarious trauma. You are not the one injured, but you're watching someone you love go through trauma. What parents generally describe is not burnout, but it's more a feeling of not getting things right, an inability to keep up, overwhelm by what's ahead and they may feel a mix of resentment and numbness. One of the best things to do if you're feeling that way is to cut back on the amount of things you have to care about. Also, don't get hung up on whatever everyone else is doing.  For parents and caregivers, how can we bring balance into our lives? A few times per day, take five minutes to observe your natural breath. Then, focus on breathing deeper as a practice. Set alarms on your phone or put notes around the house. Find little ways to keep reminding yourself to keep a positive mindset. I wrote an article on progressive muscle relaxation, which walks you through breathing deeply and tightening and releasing your muscles in a specific order. This only takes a few minutes per day and it reduces hypertension, risk of disease and anxiety. What would you like to share with caregivers and parents who are struggling right now? Find whatever it is that gives you hope, talk with a therapist or connect with another parent and get away from the noise for at least five minutes a day to breathe deeply and not focus on anything else. We live in an age where self-care is a glossy, expensive thing that's very Instagram worthy, but that's not what self-care is. Whatever you do for self-care needs to be as consistent as brushing your teeth in the morning.  LINKS AND RESOURCES MENTIONED Reif Counseling Services  https://reifpsychservices.com/ Progressive Muscle Relaxation: A Terrific Relaxation Technique for People with Disabilities https://reifpsychservices.com/progressive-muscle-relaxation/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast

ONCE UPON A GENE - EPISODE 026 How Our Rare Kids Can Shape Us Molly D'Angelo is sharing her adorable son's story with us who has a rare genetic disorder of obesity. People can be very judgmental and cruel. Rare parents watch their kids struggle so much and we have fear about their futures on a regular basis. We grow a thick skin, but even we are not immune to the ignorance and unkindness we can receive. Stories like Josh's help spread awareness and educate us all to have more compassion and understanding.  EPISODE HIGHLIGHTS Tell us about your family. We're a blended family with three boys. My oldest is almost 16. My middle son is my husband's and our youngest is Josh. Josh, who will be 5 in a few months, has a rare genetic disorder of obesity.  What causes the obesity disorder? Is it a genetic mutation? In rare genetic disorders of obesity, there's a lot of unknowns still. There's a lot of research being done on a lot of syndromes. Currently, we believe we've found Josh's mutation, but he is the only one with that specific variant chance. Because he's the first reported case, things are complex with regards to getting approval from the insurance company and getting services. The condition is related to Bardet–Biedl syndrome (BBS) which is in the rare genetic disorder of obesity family.  After your son was born, when did you realize something was different? We had some idea when I was pregnant that something may have been going on, but we just didn't know what. We had spina bifida come back as a possibility when we did prenatal testing, which planted the seed for us that something might be going on. My husband and I recognized right after birth that Josh was fussy and needed extra care and attention than our other boys did. It wasn't until Josh was about 6-10 months old when I got the doctors to recognize our concerns and start referring us to endocrinology and genetics specialists.  How do you combat human stupidity and general unkindness in looks and comments geared towards you as a parent and also Josh? It took a long time and lots of grace. I recall a time I went to the grocery store with Josh. At the time, he was in a medical grade stroller. I remember an older man approaching me and he used the r-word to describe Josh and relate him with someone in his family. I had to take a deep breath and consider this was someone who may be from a different generation or background than me. I shared that term wasn't one that we used anymore and I explained about Josh. I explained that Josh was very smart, knew his ABC's and 123's, even though he couldn't communicate it as well as other children. I try to use these moments as opportunities to educate. On the flip side of that, we went to the doctor today and as we were checking out, there were three lovely little girls that wanted to embrace him, they said hi and one was showing him her doll and it was so sweet. You have to take it one moment at a time, take it with grace and try to educate as many people as possible. Does Josh also have an autism diagnosis? He does. When he was about 12 months old, we had our first evaluation done. He was diagnosed officially when he was 18 months, which is the earliest marker where you can be diagnosed. The earlier we could get a diagnosis, the earlier we could get intervention and statistics show that the earlier you can get that intervention, the more helpful it is long term for your child. We went to early intervention with our local school district and then we did physical therapy through our state local hospital. Then we ended up at a private center, which is where we are now. They do the ABA, OT, PT and speech all in one location. He goes 5 days per week, only 3 hours per day right now. Eventually, I'm planning on homeschooling.  What are some of Josh's favorite things? Josh is so happy and everything makes him laugh. We didn't know if he was going to be happy because he was fussy for so long, but now he's always happy unless he's feeling sick, tired or something is wrong. He's such a joy. He loves bubbles and watching his dog and brothers run around.  What's Josh's relationship with his brothers like?  His brothers are incredible. We really worried about them and how this was going to affect them. Last year especially, we saw a big shift in coming together as a family and really supporting and taking care of each other. Before that, they stayed out of his way and if he was having a hard time or a bad day, they gave him his space. Now, they just want to be around him as much as possible and Josh looks up to them because they're big brothers and super cool in his eyes. I see a transition in my oldest wanting to help and caregive in a way. Our middle son is the same way in that he's loving and supportive. I believe we were all blessed with Josh's presence in our lives for a reason and those boys, as much as they might miss out on going to the beach or other things people take for granted, they're not missing out and they've been given a whole new experience that's going to shape them into the men they're meant to become one day. What kind of advocate has this made you? I never sought out advocacy, it just happened, which means it's my purpose and must be some type of calling that I'm meant to do. I'm a parent advocate for Josh and I have fallen into a position of being a voice for the rare genetic disorder of obesity, spreading the word in a positive format. We share our story to educate that not all people with obesity sit around and eat all day.  What do you want people to do or say when they meet Josh? When we're out and about, there's always someone who doesn't know how to act or respond. I think a lot of people were taught not to look at people who look different, but we're as a collective whole in the special needs community coming together to let people know to treat everyone how they'd want to be treated. Look at that person and say hello. And if you have questions, feel free to ask if the parent seems receptive. People with special needs are a minority and it's time for inclusion for all people. It's time to accept people for people. LINKS AND RESOURCES MENTIONED Molly D'Angelo Instagram (@mollyedangelo) https://www.instagram.com/mollyedangelo/ LEAD for Rare Obesity on Facebook (@LEADforRareObesity) https://www.facebook.com/LEADforRareObesity/ Love What Matters on Facebook (@lovewhatreallymatters) https://www.facebook.com/lovewhatreallymatters/ Morgan's Wonderland https://www.morganswonderland.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast

ONCE UPON A GENE - EPISODE 025 A Grandfather's Story of Guardianship, Caregiving and Advocacy Parents and caregivers often hear, "I don't know how you do it". We do it because we have no choice and we do it well because we do have a choice. We do it because we're human beings who love each other. This is a touching story of hope, kindness and giving back. Jeremy Kredlo is sharing his story of becoming the legal guardian of his granddaughter, Kylee.  EPISODE HIGHLIGHTS Tell everyone who you are and about your story. I'm the grandfather and custodial guardian of Kylee. She's 11 years old and was born in October 2008. My oldest daughter had a regular pregnancy with no warning signs that anything was wrong. She went into labor and was in labor for over 24 hours. She's about 90 pounds, so when she reached the 24 hour mark in labor, the OBGYN decided it was time to perform an emergency c-section for failure to progress. I sat in the operating room holding her hand during the procedure and the first words that were spoken in the delivery room after Kylee was delivered were by the anesthesiologist who said "Congratulations, you have a quiet baby". The second words spoken were from the delivering physician who yelled "She's not breathing". Kylee had at some point either during labor or shortly before labor, lost oxygen for an extended period of time and the loss of oxygen had been sustained for long enough that the majority of her brain tissue was killed. She was put into the NICU and they didn't believe that she would survive the first 24 hours. She wasn't passing urine and she had a number of concerning health conditions. After the first 24 hours, her body started responding normally and she started hitting all of the autonomic milestones that were necessary to sustain life. She remained in the NICU for the first two months of her life. There were a series of tests that were done. Her APGAR scores were generally as low as you can get. She was diagnosed with Hypoxic-ischemic encephalopathy (HIE), which is essentially global brain damage and also seizures. Those were the two primary diagnoses at the time. After she was eventually able to be taken home, she spent the next six months of her life living with my daughter at my ex-wife's house. She was on a number of medications, was tube fed through an NG tube and she cried a lot. She was in a lot of pain and things were not going very well for her. After about six months, it became evident that she needed a better quality of care and better quality of life. I stepped in and took temporary guardianship of her to help my daughter and Kylee out. I signed paperwork for six months to help and started getting things in place for Kylee. I started getting home care nurses to come to the house and to help with transportation, neurology appointments, all of the things that needed to happen to ensure Kylee was able to have the best quality of life and care that could be provided. It became clear during that time that a temporary solution was not what was needed and that once everything was in place, going back to live with my daughter and my ex-wife was not going to be in Kylee's best interest. I made the very difficult and very heartbreaking decision to go to court to get full permanent guardianship of Kylee because of my concerns. Did you have a hard time navigating the system and how were you able to do that and have the sudden sharp turn in your life?  At the time Kylee was coming to live with me was shortly after the recession had hit in 2008 and I ended up getting laid off from my job. Thankfully, I had positioned myself financially where I didn't need to go back to work right away and I was able to have that dedicated time to focus on Kylee and her needs while I wasn't working. My background was as a project manager and while I worked in information technology, part of being a project manager is knowing how to not take no for an answer, knowing how to escalate and how to sequence things to ensure you understand risks and action items. My background made me uniquely suited for the situation that I found myself in with Kylee. It  allowed me to be successful in getting Kylee's services set up quickly and to navigate the system. The thing that was exposed to me was that I was a professional project manager with a significant amount of experience, I had a Master's degree, I was financially stable and I had trouble navigating the system. It exposed to me how much more difficult that would be for someone who English was their second language or they were a young parent without that type of professional background or they didn't have those same educational advantages or who were living paycheck to paycheck without the financial security that allowed me to pursue things that needed to be pursued. It reinforced to me how difficult the system is to navigate and how many people probably don't have the services they need and are entitled to just because they don't know how to navigate the system.  What helped you get into the mindset that you knew you were doing the best that you could taking care of yourself and Kylee? It wasn't purposeful. I didn't read a book that fundamentally changed my life or go to a seminar with an illuminating epiphany. It was gradual and started with the speech therapist telling me that I couldn't just be Kylee's caregiver because that wouldn't be enough and that at some point I would look back and may even resent her because my life had been consumed by caring for her. I never wanted to get to that point because I loved her, so I made the first step of carving out time for myself. Slowly over time, other things started happening. I had a dear friend that would come over and bring food to my house every Friday night and she, Kylee and I would sit on the couch and watch Comedy Central standup. It just made a little space for things not to be about Kylee. I started carving out time to write, to give back to other people, to do volunteer work in the disabilities community and it was because of Kylee but it wasn't for Kylee. It was for me. Kylee has made me the man that I've always wanted to be. What would you say to other male caregivers who are feeling along or are hesitant about reaching out to others and seeking a community? As men, one of the challenges we have is that we're generally taught that the only valid emotion is anger and that anything else needs to get stuffed down and ignored. It's a toxic way to live your life, in my opinion. One of the things I'd say to other dads is to understand that this isn't something you can fix, that your child isn't broken and you're not going to find a solution. There are things you can control that help, so focus on those. Some of the things you can and should do is to work through your own emotions, reach out to other people going through this and share your experiences, frustrations, anger and grief. We're not alone in this and we don't have to solve or fix this ourselves. Understand that it's okay to not be okay and that you don't always have to be the strong one. Sometimes you can be the one to do the crying or the one that needs to take the time to work through what you're going through. This is a lonely journey and it's difficult to deal with by yourself. There are few people out there who truly understand what this is like. Talk to people who have that shared experience.  What are your favorite parts of the day with Kylee? Her brain damage is so severe that she has a number of other medical conditions. She's completely blind, has advanced cerebral palsy and a number of other conditions. But, she's happy. Most of the time she's smiling. She's still g-tube fed, can't sit up unassisted, can't talk and can't communicate. It's difficult for her to have activities that we do together that are meaningful to both of us, but what she and I both get a lot of joy out of is our snuggle time. In the evenings, we'll sit in my theater room snuggled in on the couch and watch movies or tv shows together. Kylee has this beautiful smile on her face and loves being held and having that time with me, which is interesting because she doesn't have very many communication mechanisms. The bond she and I have shows in other ways.  What else would you like to share with those listening? There are a lot of things I've learned over the years. I've learned how to navigate services, who to reach out to for information and medicinal knowledge- all the important things most of us learn along the way. It's essential that people find those resources, but what I want to encourage everyone on this journey to understand and focus on is the concept that what you're doing is enough. You're doing everything you can and you're not failing. You're doing so much more for your child than most people do for their children. It's vitally important to make time for yourself as well. Be okay with the idea that it's okay to step away and that you are more than just a caregiver and more than a parent. You need your own identity. In my experience, I'm an infinitely better caregiver because I take time for myself to pursue the things I want and need in my own life. Taking that time and making the effort to take care of myself has made all the difference for me and also Kylee.   LINKS AND RESOURCES MENTIONED The Father's Network

ONCE UPON A GENE - EPISODE 024 CHOOSING HOPE Jill Hawkins is a parent advocate and mom to three children, two of which share the same variant on the FAM177A1 gene. This undiagnosed disease is believed to be the cause of our kiddo's disabilities and her family is on a mission to find others and get more answers. Like many of the parents in this rare world, Jill has found whatever free sliver of time in her days or nights to search for others with the same genetic variant or someone studying it. Parents like her really impress and inspire me with their passion and drive. I urge you to share this information with others so someone, somewhere can find her and help provide more answers. EPISODE HIGHLIGHTS Tell me a little bit about your family. My husband Doug and I have three kids, a 16 year old boy named Nash, a 15 year old girl named Charlotte and 9 year old son named Cooper. Charlotte and Cooper have an ultra rare genetic disease that we're still in the final process of officially diagnosing. Nash is developing typically. We have challenges around Charlotte and Cooper's disease, but we are a fun-loving family. Tell me about the gene mutation Charlotte and Cooper both share.  They have a loss of function of their FAM177A1 gene. Their deletion was found on whole genome sequencing about a year and a half ago when Charlotte was 13 1/2 years old and Cooper was 7 1/2 years old. We had Charlotte and she was a healthy baby, I had a normal pregnancy, but right away she started losing ground developmentally. She kept missing all of her developmental milestones, she was very floppy. Her first diagnosis was hypertonia and we started early intervention at about 6 months old with physical therapy. She had a large head size that was something that stood out about her. As time passed, she kept falling further and further behind. We started doing really specific genetic testing to rule out some known disorders and they all came back negative. We continued to search for what this was. The thought was that she had a novel or de novo mutation and that it wasn't going to happen again, that we weren't any more likely than any other family to have another child affected by this or any other genetic disorder. We decided to have a third child and we wanted to give Nash a typical sibling and we had Cooper. I had another normal pregnancy, normal delivery and healthy baby. Sooner than we suspected something wasn't right with Charlotte, we suspected something wasn't right with Cooper. Because Charlotte was undiagnosed, we didn't have anything to look for so we hoped for the best and started therapy early. After a year, it was very likely that Cooper and Charlotte shared the same disease- we just didn't know what that was. It wasn't until quite recently that we think we figured it out. Why hadn't there been a whole exome or whole genome test run on Charlotte sooner? There had been and it didn't show anything. We were followed by a genetics team at Seattle Children's and they were throwing everything at this, thinking it was a solvable case. It's compelling from a genetics standpoint to have two affected kids, remarkably similar in their symptoms, one unaffected child and two unaffected parents. They did exome sequencing and there were a couple suspect genes, but none panned out. They were looking for a mutation that was passed on from both Doug and I because if it were passed on by just one of us, all of our children would have it. The fact that we have an unaffected child means it's a recessive mutation and Charlotte and Cooper would have inherited two mutations on the same gene for this to happen. At the time, whole genome sequencing was very expensive and wasn't yet being done clinically and the team at Seattle Children's weren't sure if or how they could interpret the data. I applied to the The National Institute of Health Undiagnosed Disease Network and they accepted us. They did a lot remotely, but we did fly down for clinic visits, they gathered all the information they wanted and they did whole genome sequencing right away. The first couples analysis didn't show anything and they couldn't find anything. About a year and half after they did the initial sequencing, they kept looking at it and thought they found the gene causing the disease. They clinically validated that this mutation was real and they found an academic paper where four siblings were referenced with issues with a similar variant on the same gene. Then they found through gene matching databases where there are two other patients, where we have two of four. What was it like going through the emotional process, stress, anxiety and grief stages of finding out that something was wrong with Charlotte and then having it happen again with Cooper? It was devastating when we realized Cooper was affected as well. We wanted to experience development as it's naturally supposed to unfold and we took it for granted with Nash when he hit all the markers. You don't realize what a miracle that is. Charlotte wasn't hitting the marks. She would work so hard to make the tiniest little gains. Instead of milestones, Doug and I called them inchstones and we would celebrate them, but the work we had to do just to make the tiniest bit of developmental gain was really tough. It was tough to try to stay positive and not get discouraged through that, especially when you're still holding out hope that it's just a developmental delay and that everything might catch up. The really tough part is early on when you have a child with an undiagnosed disease and no frame of reference- it's an emotional roller coaster. It's extra complicated when you have no guide book and we wanted to experience that natural miraculous unfolding of human development that's truly a miracle when it happens as it normally should. The idea that we set out to give Nash a typical sibling, someone in the future to share the burden of raising a sibling with significant needs, and then we doubled the burden for him was really devastating.  How is Nash? He's great! He's an amazing big brother, he's patient, kind and he loves his siblings. He really teaches us some lessons about empathy and kindness. Our house is a revolving door of therapists and caregivers and he doesn't like that and neither do we. I like the support the kids are getting, but we don't have a lot of privacy in our home. Nash is a teenager and he would love to come home from school and we have the house to ourselves and it's just not that way for us. That's tough for Nash. He has friends that are in similar situations as him, so there's some comradery there.  How do you find your people when you don't have a diagnosis? I found some good friends through our early intervention program. Boyer was a lifeline for me. They met me and Charlotte right where we were and gave me so much support and hope that I really needed at that point. Nobody was just like Charlotte, but I connected with other parents and shared resources and they just got it with little explanation. I'm still close with a lot of those parents. I also met other parents through school.  You seem to have a sense of urgency to get this information out, to find a diagnosis and find community. Has a fire been lit recently or have you always been doing this? You are largely responsible for lighting this fire in me. I read about your podcast, I listened to it and I was so inspired by the fact that you did this. Ford is still little and you're in the early stages of this and you've still managed to mobilize and do this. We have this information about the gene, and about a year ago I did a major push out to create awareness through creating a website, a Facebook group and a video about the kids. I wanted it out there and I wanted it to go viral. It didn't go viral, but we got a lot of nice feedback from people about it. We need to find more people and more patients that have this variance. We're doing that clinically with gene matching sites, but I know there's families out there who haven't had the genetic testing yet or they did, and like us, they didn't see anything. This particular variance  is hard to find because it's a deletion and they're harder to find than switches or extra information on the gene. Take a second look and have your provider look again. Almost nothing is known about this gene and it's been overlooked before. We did this big push out, but nothing came of it and it was an exhausting process for me. I knew there were next steps to take, but my personal bandwidth was beaten up by caring for our kids and other things. It was always nagging, so in the last month or two this has been a combination of learning about you, meeting you, getting inspired by you and by rare disease day on February 29th. I got an interview on NPR and I submitted our video to The Rare Disease Film Festival, and our movie about the kids is going to be screened at it on May 18th in New York City. What are the symptoms that the kids have? What should parents and medical professionals be looking out for? They have global developmental delay, intellectual disability, an autism diagnosis and autistic-like behaviors, significant language delays, large head size and low muscle tone. Cooper was born with congenital cataracts in both eyes. Charlotte and Cooper both have seizures which developed later. What would you say to parents getting shoulder shrugs from doctors and other medical professionals who don't have an answer? Always ask if there's anybody else you should be seeing or if there's anything else this could be. Just keep asking and looking around. Be pushy about it and just keep going. LINKS AND RESOURCES MENTIONED The National Institute of Health Undiagnosed Disease Network Sibshops Boyer Children's Clinic  NPR Interview The Rare Disease Film Festival Findmygeneticvariant.com fam177a1.com/  FAM177A1 Facebook Page TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 023 Mental Health and Coping During Covid-19 I hope you're all as safe and healthy as you can be right now. Dr. Laura Black is a Childhood Adolescent Psychiatry Fellow and she's providing tips to us on talking to your kids about COVID-19 and managing your heightened stress and anxiety. She also leads us through a mindfulness exercise, so be sure to take a few minutes for yourself at the end of this episode and share it with a friend or family member who can benefit. EPISODE HIGHLIGHTS What is your background? I'm a Childhood Adolescent Psychiatry Fellow, trained in psychiatry in adults, children and teenagers. I'm trained in medication and psychotherapy and I've been working in mental health for a number of years. How do we explain to kids what COVID-19 is and why they can't go anywhere? This is particularly related to your audience with kids that are medically complex. You are the pros at making developmentally appropriate explanations of medically complicated stuff, so don't forget that you have been doing this for your kid's whole life. This is something you know how to do and you may even be able to support some of your parents friends. Be proactive and sit down and have a conversation with your kids about what's going on. One way of putting it would be to say that "COVID-19 is a new virus that's happening in the world and doctors and scientists are still learning about it and studying it. A lot of people have gotten sick recently. Doctors think that most people will be okay, but some people are going to get pretty sick." Emphasize that doctors and nurses are working really hard to help people stay healthy. End on a positive note and talk about what role they can have in flattening the curve by saying "If we can share less germs, more people can stay healthy. The proactive things we can do include cleaning our home, washing our hands and staying in touch with people in ways that aren't in person."  How do we help reduce our kid's stress and anxiety levels? It can be really helpful to have routines around mental health and it's one more way that families and kids can learn to take care of themselves.If you already working with a therapist or mental health professional, continue to do that via video or phone and maintain the routine of those regular visits if you have a way of doing so remotely. Finding a way to validate anxiety without magnifying it is really key. Acknowledge fear or worry without escalating it. One way of doing that is by thinking of positive coping thoughts. If worries keep recurring, write them on an index card or put them on a bulletin board to visualize them regularly. With us all being stuck at home, it can be helpful to have scheduled worry time and a scheduled worry spot. Choose a spot in the house that can serve as the worry spot and schedule time in your day that you think about worries and if worries come up outside of that time, put it out of your mind for the moment. For younger kids, it may be helpful to do the worry time with them and help contain it to a certain time and location.  How do we explain the concept of the current situation in a realistic way that doesn't spark more fear? This can be hard if the kid has trouble understanding that this isn't their fault. Try to emphasize that we're all in this together, and not because we're in trouble, but because we're trying to help each other and we're all doing our best. Try to reassure as much as possible that this is something we're all doing together and no one is at fault. What are some ways to manage tempers escalating? Parents and teenagers need to have compassion for themselves when that happens. If patience becomes short or we're a little more on edge than we normally would be, to remember we're all going through a lot right now and we're having a shorter fuse because we're under more pressure than usual. Try to take a breath and forgive yourself when that happens. When it comes to dealing tempers at home or kids struggling with their emotions, think about your prevention strategies. How do you set up your home for success? You can increase the way you're structuring time at home together, like school stations and who is doing tasks when, thinking about minimizing conflict and being flexible. Be mindful that some of your house rules may require an adjustment, but I wouldn't let go of them completely. When emotions come up, one framework that may be helpful is to think about the zones of regulation- green (good-to-go), yellow (things are ramping up) and red (negative emotion explosion). Use the language around the zones to suggest breaks and if kids begin to recognize those feelings within themselves, reward that using whatever system you use to encourage self-awareness and regulation.  How do we all adapt to the changes in our routines? Anxiety can cause people to get rigid and that's true for kids and adults. Have a daily schedule on a board that's visible and schedule daily activities similar to the typical school schedule. Visual schedules are especially helpful for kids with ASD or developmental disabilities. If you're having difficulty with transitioning between preferred and non-preferred activities, having a simple first-then visual can help. It's important to talk about flexibility at home and as a parent you can model that and recognize your kid's flexibility as a specific behavioral target.  When kids are bored and not wanting to do social distancing, what can we do? As we've seen from the recommendations, it's so important that we buckle down right now. With kids, this is tough. Explain in the most developmentally appropriate way that why this is going on, that this is how we're keeping people healthy and that this is a way kids can contribute and do something good. Have a structured day with fun stuff within the structure built in. Play family games on the TV and facetime with family and friends to stay connected in a way that keeps our distance. With teens, it's a little more complicated because they have the natural desire to rebel and not follow rules. Some teens may still be at the stage of joking about the virus, which is a form of denial. Usually under denial is fear that a person doesn't want to feel, so be aware of your emotions that might arise when you see teens acting that way. Bring it back to finding a way that speaks to them to acknowledge the importance of what's happening. Families now have this extra strain of losing their jobs, paying their bills and keeping everyone healthy. How much of an impact can this have on kids on top of everything else they're dealing with and how can we be extra cautious? Kids do respond to your emotional cues and that's both the words you say and the tone you say it in. They can feel the emotions and pick up on vibes, so it's important to make sure they feel safe with you with everything going on right now. My intention is not to add another layer of parental guilt, but it's more to reframe and emphasize that your ability to care for yourself is really important right now. Put the oxygen mask on yourself before you help others. This is an important time for you to take care of yourself to the point that you can be emotionally present for your child as you go through this experience together so you can meet their emotional needs. Have compassion for yourself right now because this is a legitimately tough time and you're going to be stressed. Your experience will be better and your kid's experience will be better if you do what you need to do to care for yourself.  As a parent of a medically complex kid or having a family member with a compromised immune system, how would you suggest coping with feelings of anger towards others who aren't following social distancing guidelines? It's natural to feel upset by that. I've seen the filter people are using on their Facebook photos that says "your only is my everything" and it's pure truth. This is not a joke, it's real life. It can be hard to know how to respond to people not taking the situation seriously. As far as your own feelings or resentment or anger toward those people, give yourself permission to feel that because you have every right to feel upset about what's going on and the impact it may have. Try to find some empathy for what would bring a person to have that perspective, like denial. What's under the denial or the joking is a fear that they aren't able to face. As far as communicating with people who aren't taking this seriously, it's two sided- speak your truth and pick your battles. If there's a conversation to be had, keep it simple and don't demonize the other person. Pick your battles and be thoughtful about your interactions.  What do you want to leave us with amidst all of the stress going on right now? I want to recognize all of the parents out there who are dealing with this, especially having medically complex kids. I have so much respect for you and I'm sending you so much love and support. Take care of yourself right now. Take a moment for a mindfulness, love and kindness exercise and come back to it as often as needed. LINKS AND RESOURCES MENTIONED Mindful Schools Visual Schedule Printables - Google Jackbox TV Netflix Party Ten Percent Happier Meditation TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 022 School Closures and FAPE After the schools closed, I saw an uproar on social media, reading a lot of  incorrect information, worry and confusion. This episode is geared to helping form realistic ideas about why distance learning isn't for all students and find acceptance of this topic. This is a huge hit to everyone, but joining me to help us all take a deep breath on the matter is Jen Cole. EPISODE HIGHLIGHTS Tell us about your position at Pave.  I'm the Director of Parent Training and Information at PAVE. Every state has a parent training and information center, funded through a grant from the US Department of Education and we're here to provide technical assistance to families and community members when they have questions or concerns about education for a child, birth through 26. What makes us uniquely positioned to help families is that most of us at PAVE are parents of disabilities. I have a 9 year old with a developmental disability, so I got thrown into this years ago shortly after he was born and I endeavored to learn as much as I could and that's how I crossed paths with and later began working for Pave.  Explain what FAPE is. FAPE stands for Free and Public Appropriate Education. FAPE applies to any eligible student for special education and also includes students with 504 plans. A 504 plan is typically a plan of accommodations and doesn't usually contain specially designed instruction for a student.  Can you explain the district's thought process behind it considering special education and 504's? As a parent, I've always been concerned with equitable access for my child's education. When the Office of the Superintendent of Public Instruction (OSPI) issued their handbook to parents regarding COVID-19, they said districts have an obligation to provide equitable access. So this goes beyond special education and can include our students who are English learners, who are experiencing homelessness, who are in foster care and who need access to nutrition services. Special education is definitely a strong consideration. For some students, there's multiple intersections where a student might be experiencing homelessness and may have an IEP and they're at a further disadvantage. Equity is key here and that's the obligation the districts have to all of their students. It's a huge consideration when districts are offering distance or remote learning and determining if all students can access it and if they can't, they have to re-think that.  Do you know of any ideas or plans that school districts are working on to establish an equitable distance learning program? I have not heard any or seen any great plans at this point. What I do know is that a lot of the Superintendents are in communication with OSPI and their educational service districts to get creative and be solution-focused on how to move forward with a plan.  What are some resources that you know of that parents can turn to in order to get other services for their children? At the local level, it behooves schools and districts to be in communication with families. For a lot of families who have access to social media and the internet, I'm noticing communities pulling together online to share resources. One of the most recent thing going around is companies giving away free trials to their educational apps. I've heard that some of our community partners are continuing some of their child care and opening that up to the community, which may provide additional experiences to keep kids engaged. On the matter of services for the kids that have an IEP, are they entitled to these no matter what? I have been looking at the most recent guidance from OSPI regarding this and generally speaking, if schools are shut down to all students, then they're shut down to all students. Schools do have an obligation to consider this impact on students with disabilities. Because IEP's are individualized for each student, it potentially becomes that team's decision as they look at the information around the closure and determine the impact on the student. I encourage families to start thinking about this as they monitor their child's progress or lack thereof while they're out of school and to raise this issue with the IEP team.  Is the ESY something that's typically provided for any student who needs extra credit or failed a class or is it currently just for kids with IEP's?  Extended school year services are different from summer school. Summer school is typically offered to all students, but is more targeted to students who qualify for free and reduced lunch or students who might be not on track to graduate. For students with IEP's, extended school year services is an IEP team decision. There's specific code laws around how that is defined and is often around regression in skills or knowledge due to time off. It can also be offered to students who are at the cusp of some emerging skills where to cut off services at the end of the school year would be detrimental.  Do you have any ideas about how you're going to help your son with his developmental challenges that he gets help with in school? Like many families, I work full time. I do have the privilege of being able to telecommute, so if my son is at home while I'm working a full day, it can be challenging to balance my work needs and also his needs. I'm trying to figure that out now. I know a lot about my son's disability and I'm very familiar with his IEP, so I have some ideas about how I'm going to be able to support his learning. My son also gets occupational and speech therapy, so those things might be a bit trickier for me to implement, but I'll go back to his IEP and look at the goals and see what I can work on. I'm his first and most important teacher, so I think as much as I can, I want to support his learning at home.  What are your final thoughts on this subject? It's best for us to be united and care about every student's access. Working together, pulling together and working with our community partners and our schools to be solution-focused is going to be helpful as we emerge from this and move forward from this.  LINKS AND RESOURCES MENTIONED PAVE TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 021 Healthier Healthcare for All Christie Olson is interviewing me and we’re firing up a conversation about the healthcare challenges along my journey with Ford in hopes that it shines a light on some of these issues that parents face regularly.   EPISODE HIGHLIGHTS Effie, introduce the Once Upon a Gene podcast.  On October 31st, 2019 I launched my podcast, which I started in order to have conversations about raising children with disabilities and rare disease. I wanted to help create a community for parents with families like mine.  Let’s talk about how we know each other and how we met. At our mutual favorite place, Kindering,our local birth to three center, there’s a program for kids around 16 months old where you can bring them out of the home setting and bring them into a mini preschool setting where the parents come to the class as well. We met because your son, Peter was in the same class as Ford for a few months.  Introduce you son, Ford.  Ford is my favorite subject. He’s the brightest light, so hard-working, so smart and so funny. His laugh is constantly in my head- I hear it all the time. He has this spirit about him that brings you down to Earth, He loves the comfort of his home and his stuff and being with family. He loves weather, being outside and the wind on his face. He’s really easy going and he just never gives up. He’s the hardest working person I’ve ever met.  Talk about when Ford began receiving outpatient therapies from Kindering. Ford was admitted into Seattle Children’s at about three months old for failure to thrive. When we left after about a week, I think they set things in motion for us. I don’t recall making those calls, although maybe I did. I think Seattle Children’s played a huge part in connecting me to Kindering. They set up an evaluation for Ford and I brought him in and theses two therapists did a few different things with Ford. I was really emotional and not really understanding the scope of what was going on with Ford at the time and they were so calm with me and so patient. They confirmed that Ford definitely needed therapy services, that he qualified and that they would contact me. When they contacted me, they also said Ford qualified for home visits, which was the biggest relief. We were set up with speech therapy, physical therapy, occupational therapy and vision therapy. We then found our footing with which ones we needed to focus on more.  Can you tell me about what Ford’s diagnosis is? Ford was diagnosed with CTNNB1, which is a gene that mutated. It’s a random occurrence and not something that Casey or I passed down to Ford. That gene specifically is in charge of producing a protein called Catenin beta-1 and has lots of jobs that has to do with cell growth, reproduction, cell adhesion and it affects many parts of Ford’s body. There’s cognitive disabilities, motor disabilities and speech disabilities. Ford isn’t able to sit or walk yet and he’s non-verbal. It creates a lot of difficulty in getting around and doing daily tasks. Random things also affected include his vision and a sensitivity to the sun. Most of the children diagnosed are really young, so we don’t have a lot of knowledge about what can happen later. CTNNB1 was found in 2012 and there are fewer than 200 people with the diagnosis so there’s a ton we don’t know yet. We’re growing a lot with the access to genetic testing, so hopefully we can keep learning more and connect it to similar diagnoses. Are there adults with this mutation? There are about three people older than 18. Yes, there are probably hundreds throughout the world who have never been diagnosed or who have been mis-diagnosed with Cerebral Palsy. If someone were tested before 2012, they wouldn’t have been tested and wouldn’t have been diagnosed. That’s the case for a lot of rare diseases where the science, innovation and genetic testing is coming out so fast that anything prior to that, a person would never know unless they were re-tested. Were there any challenges or difficulties that you had accessing the genetic testing you needed? At the time, I didn’t know what genetic testing was or that we needed it. We got referred to a geneticist by our pediatrician. She thought she knew what Ford had, but she wanted him to get a full exome sequence because she was positive that something genetic was underlying for Ford. I’m thankful that she took the initiative to do that so early on because I see so many families who’s doctor has never even brought it up and they learn years later from other parents to ask for it.  Discuss what a typical day with Ford looks like. The first thing we do is give Ford his medications. He takes medicine for dystonia, which is the same medication that someone with Parkinson’s would take. After he has had his medicine, we hug, I open the window and we look outside. I get him dressed and get his food ready. Ford’s muscle tone also prevents him from swallowing well and he’s never been able to really get a meal down without gagging or vomiting. He’s g-tube fed, so I get his food ready, plug it in to his tummy and cross my fingers for about an hour and a half that it doesn’t come back up. Then I spend a few minutes getting his foot braces and shoes on, which are tough to get on.  Is there certain equipment or supplies you’ve had to make work for you?  One of the biggest challenges that I had in the beginning was finding a way for Ford to sit. There are zero things on the market for a child who has low muscle tone that are under $1000. I spent so much money trying to find a way for Ford to sit, to sit safely and in a position for his body to do its jobs- and nothing really worked. This amazing woman named Trish at Kindering made a chair at her house with wood and screws. She made Ford a chair just for his body and we used that for two years until he grew out of it. Have you found there’s any insurance reimbursement for equipment?  Medical insurance itself is a huge challenge. Eventually I was able to get a feeding activity chair for Ford. It took me about a year to get it and I still use it today. It takes a long time to get things like that approved, so you have to figure something else out in the meantime. You can wait a really long time and go through appeals and denials for a long time. And you have to actually have to know about it. My therapist didn’t recommend it or mention it. I actually saw other people using it before I even knew something like that existed.  What are the technicalities of the g-tube and feeding pump you guys use?  For the first few months, when Ford was very young, he used an ng-tube which went through his nose. His g-tube was placed, which is sewn into his belly and there’s a manually pump that goes with it. Some kids use a pump, some don’t and some the food is administered with a syringe. He receives 100% of his nutrition from the g-tube. It’s simple to use once you have done it a couple times. You measure the food, pour it in the bag, click it into his stomach with an extension that goes from the tube to the bag and you press play. Ford uses an infinity pump which seems like the easiest pump to use from what I’ve seen. It’s still a struggle for myself and Ford’s providers to determine what Ford will tolerate as far as rates and amounts. I think it has to do with Ford’s condition and we haven’t figured out the why or how to master it. He doesn’t gain weight much, he’s been the same weight for the last two years- maybe gained a pound. We’re constantly worried about his nutrition and whether or not he’s getting enough calories. What do family meals and holidays look like even though Ford’s not eating food at the table?   That’s not as hard as it used to be. We have a chair that Ford sits in at the grandparent’s homes. He sits in his chair and we plug him up to his g-tube at the same time and most times, if not always, Ford gets to have his ipad while we’re at the dinner table and he gets to watch videos. Sometimes he wants a taste of food, which is exciting. Sometimes he actually can participate, but he mainly just wants to be around the family. Everyone is good about making Ford feel like he’s at the table. He joins us, just differently than most kids.  Does Ford utilize an ipad for communication? We recently got an application called Proloquo2Go to go which we’re all still learning. Ford thinks it’s funny because he can push all the buttons and it speaks back to him. Ford’s means of communication for other people will probably largely be this app. It’s an amazing resource and Ford’s responding to it.  For people who work in healthcare, how can we come alongside you and provide you tangible help and validation? What would have been really helpful for me in the beginning is a person or packet with every resource I would need- a comprehensive take home packet to know next steps. Having this packet would have been helpful to know where I was supposed to go. In appointment settings in general, the empathy from providers matters. It matters that we feel listened to, that they know the diagnosis and have read the chart before coming into the room, that they think outside the box. Including us in the care plan as a teammate would be awesome, but I know that comes down to how long a doctor has to prepare for a visit. I want doctors to give me hope and encouragement, motivation and I want them to have a positive outlook on their future- just being on my team on a human level and not just my doctor. It would also be helpful if there were better collaboration between providers.  What are things that you appreciate most about the healthcare system? I’m appreciative for having healthcare. I’m grateful for the nurses involved in healthcare. They’re such a beautiful bridge for patients and families. They’re so helpful, empathetic, a lot of them go out of their way to make sure you know about something or to give you something that you can take home and find useful for your child. I’m grateful for doctors who take the initiative and want to seek out a diagnosis for your child. I’m grateful when doctors and healthcare professionals stop to think about it and they don’t just go through the motions- to look at the big picture. It’s helpful when doctors go beyond the appointment to help.  LINKS AND RESOURCES MENTIONED Billy Footwear Kindering Proloquo2Go TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 020 Morgan’s Wonderland Morgan's Wonderland in San Antonio, Texas is one of the most magical places on Earth. It's a shrine of inclusion. They're changing the game in what accessibility and inclusion mean with a theme park designed with disabilities at its core. From young to old, with or without a disability, Morgan's Wonderland is a place to encourage everyone to gain a greater understanding of each other. Nikki and Brooke join me on this episode to talk about Morgan's Wonderland. EPISODE HIGHLIGHTS What is Morgan's Wonderland? We are the world's first ultra-accessible theme park. Our theme is inclusion. We are fully inclusive and accessible for visitors with special needs. We're an oasis of friendship and a place where people can feel safe.  What is Morgan's Wonderland mission? We are a non-profit and based on the support we get from the community, we're able to offer admission to guests with special needs for free. Since we've opened ten years ago, our park has welcomed approximately 1.8 million guests from all 50 states and 6 other countries.  Tell me who Morgan is and how this magical place came about. Morgan is Gordon and Maggie Hartman's daughter and she was born with special needs. Gordon owned a successful home building business and in 2005 he decided to sell the business and establish the The Gordon Hartman Family Foundation. Maggie and Morgan went on a vacation in 2006 and while they were on vacation, Morgan was playing at the hotel swimming pool and wanted to interact and play with the other kids, but they weren't sure how to play with her. At that moment, Gordon and Maggie came up with the idea to establish a place where people with and without special needs could come together for fun and interact together without fear.  Tell me about the park itself. Our completely wheelchair-accessible park is about a $36 million dollar park that features more than 25 elements and attractions, including rides, playgrounds, gardens, fishing lake, event center, amphitheater and Inspiration Island.  How do kids in wheelchairs access the water park? Our water park was designed with everyone in mind. In 2017, we opened the world's first ultra-accessible splash park. There's no submersible water. It's a three acre park comprised of 5 different splash pads with different features with slides and a riverboat adventure. What makes this park revolutionary is that we have a collaboration for the PneuChair, which was created at the University of Pittsburgh, and there's only 11 chairs in the world- we have 10 of them. The chairs are mobile, completely powered by air, they can go in the water and the person can have complete independence throughout the park. Is anyone invited to the park, including those without a disability? All ages, all abilities, whether you're 2, 22 or 82, there's something for everyone and an opportunity to soar. When this park was created, it was not created for people with special needs or disabilities. It was created as a place that can bridge that uncomfortable interaction where people are sometimes unsure what to do. We break down those barriers so everyone can play together regardless of ability. We have so many other initiatives that we're growing and developing that will become a bigger message of inclusion. What have you noticed between the kids learning and playing alongside each other? With our staff, they're seasonal part time and volunteers, both typical and special needs. The individuals with special needs, in a different environment, may not have the opportunity to engage, have fun and make memories with friends, co-workers and guests in the park. Park guests who come on a regular basis as their regular routine, this is the way they have developed socially or physically. This is a place to grow. Talk about employing people with disabilities. We have individuals of different abilities and we find a place for them to succeed. About 30-50% of our employees have special needs. It's important to know that we treat our employees like employees. Someone with special needs is working the same job as someone without a special need, in unison. It's a beautiful thing to watch, to see our employees succeed, grow themselves and also in the understanding of being a contributing member of our society.  What's next for Morgan's Wonderland? Our growth and development isn't slowing down anytime soon. We are developing a sports complex, residential camp venue and multi-assistant center, which will be coordinated healthcare. We have a lot of opportunities to expand, grow, and broaden our message in many ways.  FOLLOW MORGAN’S WONDERLAND Website: https://www.morganswondrland.com/ Facebook: @MorgansWonderland Instagram: @morganswonderlandtexas Twitter: @morganswndrlnd LINKS AND RESOURCES MENTIONED Morgan’s Wonderland The Gordon Hartman Family Foundation  PneuChair Unveiled at Water Park TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 019 Neena Nizar and the Jansen's Foundation My guest today was misdiagnosed for decades and now she shares a diagnosis with her two young boys. They were all born with an extremely rare disease called Jansen's Metaphyseal Chondrodysplasia. With this disease, the body loses its ability to form bone properly and numerous surgeries are often required to correct the bones. Neena Nizar moved her family from Dubai to America to get the help they needed for this disease. She is a huge advocate, creating the Jansen's Foundation and working with doctors and researchers to find a cure for this disease. She's working tirelessly to give hope to so many in the rare disease community.  EPISODE HIGHLIGHTS Tell me about your story of diagnosis with Jansen's.  I didn't know I had Jansen's for 32 years. Before I got married or had children, I was born and raised in Dubai in the Middle East. I was born in the 80's before there was Google and before there were experts or rare diseases on the radar. I was misdiagnosed several times as a child with Polio and Rickett's and all sorts of other bizarre conditions. It was hard for my parents to know what was wrong with me. They did know I didn't have any of the diagnosis we were being given, but lacking the information, they didn't know what else it could be. Not knowing and just going by what the doctors said we had to do, that's what we did.  Is your experience as someone with a disability, the same one as your kids, a gift that you can give them perspective? I feel like it's a double-edge sword. Yes, I have real empathy for my children because I've been through a similar situation, I've been through so many surgeries as a child, I've seen doctors around the world. I have to really understand that my children are not me and I am not them and I need to understand that as I parent, some of the reactions my boys have are not always reactions that I would have as a child. I have to keep constantly reminding myself that they're their own individuals and even though they share the same condition, they experience things in a different world and environment. I respect that, I have to learn to understand that and try not to impose my character on them, but allow them to blossom as individuals, and also independent from one another. I don't think it's easier to parent them because I have this disease as well. I think it's harder in ways and easier in ways. We don't have a treatment for them and we're in the same boat as I was 30 years ago, so these are the hard realities I have to accept, face and learn from– and then also change. You didn't find out you had Jansen's until you had your sons and then everyone had a genetic test. Why hadn't the doctors suggested that you get a test once you were an adult and they were available? What happened was I lived with these misdiagnosis because at the time I never thought I would get married or have children of my own and it never came into question. I ended up meeting my husband online. He was in Nebraska when I was in Dubai. When we started talking, it wasn't anything romantic at all, but a cultural sharing experience and he was interested in Dubai and life in Dubai. After talking for over a year, he said he would be visiting Dubai and I was terrified at that point of being in a relationship. With a disability, I was full of self-doubt. You're programmed to think that way– that married life isn't for you and that it would be complicated. When he came to Dubai, it was like I had known him forever, he was never put off by my physical limitations or how I looked. I was so nervous, I dropped coffee all over him when we went out for coffee. I had never been out with anyone before and it was nerve-wracking. Two weeks later, we were married. We were after the same things. He was adamant about supporting all that I was doing. I was part of a special needs group in Dubai to promote people with disabilities and working to give them access to the community and he wanted to be a part of that. I think that's where we really connected. Two years later when we were thinking about starting a family, we knew we had this condition and we went to see a doctor who said we would never have children. Even at that time, no one knew what I had, even after being tested. We were in the process of adoption and then I was pregnant. The doctor said I wouldn't be able to carry the baby to term. All along the pregnancy was normal, we had no indication that the baby had any abnormalities or was affected in any way. He was 9 pounds when he was born. For a year and a half, we just enjoyed him. Everything was great, everything was fine and he was nothing like me. He was thriving. Two years later, I was pregnant again. During that pregnancy, I was about four months along when I realized that my older son was showing signs, like his feet turning inwards and he was having trouble walking. The doctors told us he had too much calcium in his blood, that his phosphate was high and all these metabolic things that I never really had. I quit my job and spent the next few months searching for information online. I didn't know what all of the metabolic readings meant, I didn't know what I had and I didn't know how to help my son. It was a puzzle that we had to piece together bit by bit with no help whatsoever. My father in India suggested I see a doctor and I did. We drove 7 hours, we waited in the waiting room for over 5 hours and we finally saw the Pediatric Geneticist. She took one look at the x-rays and said she knew what we had. She had been in Germany and been to a skeletal dysplasia class and the professor had shown a slide of a Jansen's patient and told the class they would never see a patient and skipped the slide. This doctor remembered the slide and when she saw our x-rays, she put two and two together. We were at the right place at the right time 32 years later. Our blood was sent off for genetic analysis at that time and it came back positive for Jansen's disease. There were a few articles online we accessed about the disease, associated with Dr. Harald Jueppner, a Pediatric Nephrologist at Massachusetts General Hospital and we knew we had to move stateside. At that point I was reading that patients develop kidney issues, that they don't live to adulthood, that there can be a long prognosis of dialysis and things like that. Our life in Dubai was over, so my husband moved to Nebraska, I filed all of my paperwork and joined him two years later. By then, my kids were in such a bad state that they needed medical intervention. They had a series of surgeries in 2015 and I was trying to touch base with Dr. Jueppner. We finally met him in 2016 at Rare Disease Day. He had been researching this condition for 20 years, but never met a patient. He got our blood and knew that somewhere in the Middle East there was this mother and her two children with Jansen's and he had been trying to locate us because he was so interested in us. The following year, we set up the Jensen's Foundation. We visited his lab and realized they had done so much work in this area and it was all sitting there on the shelf because they didn't have anyone driving it and there wasn't a need to develop it. The foundation has been supporting their research since 2017. We're fortunate to have an amazing scientific team, the best in Endocrinology and really phenomenal human beings. Are all 30 Jansen's patients in the patient research? There are 30 people in the world since the time of the disease's discovery, but right now there are only 10 people with this disease. We're hoping that all of them will be in the trial. Tell me about all the things you've implemented back home. One of the reasons I was never diagnosed is because I'm one of the few patients in medical history that didn't present the usual symptoms of Jensen's. I'm unique in that way. Had I been diagnosed, I probably would have never had children, I would never be on this path and we wouldn't be where we are, so in a way I'm thankful. I'm able to make an impact in our community and in our disease area. All these new patients that have been found and diagnosed through setting up our foundation, they're able to get support and rely on us for information. Everything happens for a reason and this is my reason.  What advice do you have for the parents who have kids who aren't hitting their milestones, who don't have a diagnosis yet and who don't know where to turn?  I've been in that spot not knowing. Don't give up. Even if it takes 32 years, you will eventually get there and with that knowledge everything will transform overnight and you can make up for that lost time. The Undiagnosed Center at the NIH is very helpful. There are so many resources out there to help you, so it's a matter of perseverance. It can be exhausting, but document everything and don't give up.  What are your goals for the next 5 years for the Jansen's Foundation? Our pre-clinical data is showing some really amazing results from the drug. Our goal is to get all of the kids in the trial this year, or at least me to be sure it's safe. Our real goal is to be able to treat this disease to reduce the number of surgical interventions and prolong lives in a productive manner. Also, we want to consolidate all of our lessons we've learned from this journey to help other rare disease patient groups and give hope to others. What we learn from this is really a blueprint for other people to pick up on. We're looking to share this information with other groups and even partnering with them to create a bigger network.  CONNECT WITH NEENA NIZAR The Jansen’s Foundation Website: https://neena-nizar.squarespace.com/ Email: info@thejansensfoundation.org Facebook / Instagram: @thejansensfoundation Twitter: @neenanizar TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 018 Distressed Genes Aren't Just a Fashion Statement Self care is more than a buzzword or a good intention. Synthiea and I are discussing how we create space for self care, mental and physical health and how doing small things can make a big impact.  EPISODE HIGHLIGHTS Here are some things you can do to manage stress, take care of yourselves and find some calm in the tornado that is parenthood with a child with special healthcare needs. Sign up for a meal delivery subscription This varies your menu so you're not eating the same things all the time and the meals are typically quick and easy to prepare.  Carve out some alone time Even if you simply wake up before anyone else to have a quiet morning cup of coffee, find time to be alone.  Wind down at night Take time before bed to catch up on a tv show or to catch up with friends. Set boundaries with stress If you're dealing with a stressful situation or an upcoming event that feels stressful to you, say no to those around you who take an additional toll on your mental health.Say no to things that bring up emotions you don't have time for or situations that wear you down. Find a group of other parents to connect with Whether it's a local group you get together with or a group of parents on a social media platform, find other parents you can turn to who get it.  Learn to breathe Learning to breathe properly is a skill that can help to calm yourself down and refocus. In a high- stress environment, this is an easy tool to use to bring your anxiety and heart rate down. Find the humor in your reality Use sarcasm for self-care, calling the hospital the spa for example. Where that fails, there's antidepressants! Skip appointments when needed Sometimes you just don't have the energy to get to appointments and it's okay to have those days. Don't feel bad about it. Sometimes your kids need a break too. Do a detox If healthy eating hasn't been at the top of your self-care list, do a detox to reset your system. Take a walk Get out of the house and get some fresh air.  Pamper yourself If you like to take time to get your nails done, make some time every couple of weeks for some pampering. Throw in a facial and spa day too while you're at it! Tune out the world Put on your headphones and tune into something that makes you happy– your favorite playlist, podcast or audiobook. Try journaling Journaling can be a therapeutic way for you to process through or purge thoughts. Keep a neat home (or don't) If added mess around the house contributes to your stress, tackle small projects that make you feel better like cleaning the kitchen or organizing a drawer. Find quick tasks you can complete in ten minutes or less that offer a big emotional return. Accept help If someone wants to do something for you, let them help you. It makes them feel good and it gives you a break. People, in general, want to take care of one another so let it be. I want to hear from you if there's something you do for self-care that we didn't cover in this episode. Let me know on Instagram, what is something that someone could do for you that would make a big impact on your day? CONNECT WITH SYNTHIEA Synthiea Kaldi on Facebook: https://www.facebook.com/skaldi TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 017 The Value of Genetic Counselors Podcasts have played a huge part in finding community and they’ve served as a way of educating myself. I loved Eleanor Griffith's mission in her podcast, Patient Stories. After being a guest on her podcast, I emailed her a few months later and asked for tips to get my own podcast off the ground. She was so gracious with all her shared wisdom. In addition to her podcast, Eleanor is a Genetic Counselor and Founder of Grey Genetics. I've asked her to join me for this episode to discuss and share her expertise on the importance of genetic counseling.    EPISODE HIGHLIGHTS What does a Genetic Counselor do? What a Genetic Counselor does depends on the setting they work in. In terms of a pediatric setting, Genetic Counselors will often work with a Medical Geneticist as part of a team in a hospital. The Genetic Counselor will meet with the family, get information, explain testing options, go over test results. The Medical Geneticist will come in for a portion of that appointment to do a physical exam as well.  For parents that don't yet have a diagnosis for their child, what would you say to those parents who are hesitant in seeking out your services? For everything in life that has an advantage, there's a disadvantage which is true of genetic testing. The potential disadvantages can vary a lot depending on the reason for testing and the specifics of the situation. In a prenatal setting, testing for some people is personality dependent. Some people think the more information, the better, knowledge is power and they can make informed decisions. For others, they don't want the information, it wouldn't change anything and would only stress them out. In pediatrics, there's fewer disadvantages because you already have a child who has special needs or developmental delay and a diagnosis can help with receiving the needed services. People may hesitate to avoid a diagnosis being labeled, but it can help in finding community and can provide medical management direction.  How has your job changed since the boom in genetic testing and it becoming more accessible, more affordable and more talked about? I graduated in 2011, so in that sense I'm a newer Genetic Counselor and some of those changes were happening when I was graduating. I've also jumped around to several settings, and changes affect varying settings differently. Overall, I'm seeing more genetic testing driven by sales and marketing and there's much more direct-to-consumer testing. Tied to that is a lot of people interested in ancestry testing and certain health concerns, which is murky and mostly unreliable. In doctor's offices, sales reps are present to provide genetics education, but from a commercial angle.   What's it like as a Genetic Counselor to deliver a diagnosis to a family? Aside from my experience as a student, I haven't worked in pediatric genetics and I can't speak specifically. I have experience delivering diagnosis related to hereditary cancer risks and prenatal genetic testing results. It's hard. Not in the way that it's hard for patients, but you're always hoping for good news for them. With pediatrics, you already know there's a problem, so good news can mean we have part of an answer and a direction. Overall, I'm glad I get to be the person that shares this information with patients and to be there for them. Have you ever given a diagnosis that was uplifting or relieving for them?  With hereditary cancer, yes to a certain extent. When someone has a strong pattern of cancer in the family and they're looking for information to guide their medical care, they feel they can take something from the results. For most people, it takes time to feel uplifted or relieved. Initially, they may feel shocked or in disbelief, they go through stages of processing and then feel grateful and are able to see the positive side.  When, why and how does someone contact you for genetic counseling? In most states, Genetic Counselors can't order genetic testing on their own without a physician. If someone is interested in testing, they're connected to a physician who is willing to order testing or works with a Genetic Counselor who can order it under their name. For a pediatric situation, it's ideal to see a Medical Geneticist in person and have the physical exam. If you live far away from the nearest Medical Geneticist or there's a long wait to see them, a telehealth appointment can be valuable to review some information. The results that come from genetic testing should become part of the plan for someone's medical care, so a doctor should be looped in. As Genetic Counselors, we don't provide medical advice or medically manage patients. We're here to discuss risks, options, benefits and specialists.  What are your thoughts on the bill in front of Congress right now to make a lot of the research you would access in preparation to give a diagnosis, available to the public? I don't know much about this bill and it's not something I'm well informed on. I've heard a lot about these issues and I feel they're important issues. There's a lot of frustration outside the community of parents with kids with special needs. You have peer reviewed articles behind a paywall, especially associated with reputable journals and they're expensive. Outside of the cost and model for which the prices are set, there's the question of who is funding this research and it's not a simple answer. If research was done based on grant funding, that's funded by taxpayers. Even if it's a professor conducting research which was paid out of their salary, some public funding goes to universities and that comes back to taxpayer dollars. IT's fair to argue that we're all paying for this research and it's incredibly valuable, but the research is behind paywalls. The potential downside is, even with publicly available information, it's easy to misinterpret information or make assumptions when reading an article because all studies have limitations. What is your goal for Grey Genetics and what do you have planned for the future? My goal for Grey Genetics are pretty long term. I've tried to create a platform for Genetic Counselors to offer their services. We don't take insurance because genetic counseling isn't reimbursed well enough and insurance is difficult to navigate. At this point, people have to pay out of pocket. One long term goal is that the payment structure is changed. We do contract with healthcare providers so there's potential for us to work with patients that way too. With Genotypecast, I want to cover the different genetic topics in the news and to reach a different audience of people than Patient Stories and elevate Genetic Counselor professionals. CONNECT WITH ELEANOR Grey Genetics About Eleanor Griffith Email: podcast@greygenetics.com LINKS AND RESOURCES MENTIONED Patient Stories Genotypecast New in the Family: Ford and CTNNB1 TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram  

ONCE UPON A GENE - EPISODE 016 The Lucky Few I'm super excited to be talking with a super rad dad, Jordan Steele. He married his high school sweetheart and is the father to five year old twins and an almost one year old son who has down syndrome. He's genuine, fun and a lover of life. Jordan is also an emmy winning meteorologist and host on KING 5 Seattle.   EPISODE HIGHLIGHTS Tell us about your son Kinlin, who has down syndrome.  Kinlin is 11 months. We had a great pregnancy, he was healthy and we didn't do genetic testing since everything was going well. When he was born, everything was still great and it was about 6-8 hours after he was born that the nurses came and checked him for down syndrome. You have all these things playing in your mind, but after processing through, crying, praying, talking to friends and family, we had a aha moment where we realized we had been given a gift. That next morning, we were filled with complete joy, we had friends and family come and they gave us nothing but positive embrace and from there everything was great. You still have the scariness of doctors telling you things, the what-if, thoughts of what could happen. Your mind starts to ramble again and you get caught in a tornado of negative feelings. You have to change your mindset and perspective. Things have really been so great. He's healthy and happy. He had a heart palpitation, so we still have a heart doctor. He was on oxygen for a couple months trying to get his lung strength and his lungs are good now.  Do you think knowing Kinlin's diagnosis would have helped to better prepare? No, if we were to know, I think we would have freaked out more, done more research and it would have taken a lot longer to come to the conclusion of pure joy. I think if we were to know, there would have been a lot of time before he came of stress and worry, which could have affected him. Ultimately, it causes internal conflict that you don't need. For some people it's helpful, but for us I don't know that it would have been. How would you say that having a son like Kinlin has enhanced your family or changed the way you parent your other kids? We have a lot more grace and patience.Having twins, you struggle with patience and getting that patience took some time. Having Kinlin gave me perspective on how precious life is and how you need to be calf and enjoy as much as you can right now. Life is a gift, health is a gift, every little thing is a gift. Sometimes I look at my kids with their crazy attitudes when they talk back and I think about how I can parent them in that moment and just have love and grace. My life has been about finding the joy in every moment, even in a bad situation.  How do you talk to your twins about disability? The first experience we had was when some neighbors told them that Kinlin would look weird or different. They came home and we'd talk about it, talk about what would be different about him. Their biggest thing is "why". We're into a period now where we express that we have been blessed with a child with disabilities, which in return, will make us all appreciative of who we are. It's been milestones and I'm not sure how they will look at the world differently, but I'm hoping it's going to make their journey much more special. Slowly but surely, we're teaching them. What are the biggest misconceptions that you had or that you feel other people have about down syndrome? There's a whole spectrum within the down syndrome community. That spectrum can be a wide array of how severe it is and how somewhat minor it is. We're learning that society will limit you and that you don't need anyone's approval to go beyond that line. We're talking about down syndrome more and it's becoming more normal.  What would you tell parents who have just received a diagnosis? Feel every emotion because they're there for a reason and you don't want to mute them. You're going to feel extremely sad and scared and you want to acknowledge, embrace and feel that, but don't let that feeling take over your life. You have to come to a place of peace and calm. Try to get to the end goal that life is not over. This is just the beginning of something beautiful. It's different, but it's a good different.   LINKS AND RESOURCES MENTIONED The Peanut Butter Falcon Northwest Center KING 5 News TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram  

ONCE UPON A GENE - EPISODE 015 Films and Fatherhood Daniel DeFabio is joining us today to share his experience and perspective as a father of a son with a rare disease called Menkes. Daniel is a contributing author to The Mighty and the Co-Founder of the Rare Disease Film Festival.  EPISODE HIGHLIGHTS Tell us about your son Lucas. The good news is that he has just turned eleven years old. He was diagnosed with Menkes at age one and we've been dealing with this rare disease journey for ten years. It's unfortunate that had he been diagnosed immediately at birth, he could have had a very different outcome. He could have had almost a symptom free path. Menkes disease is an interesting example of how important early detection can be and that's one of the reasons I try to be so vocal and raise awareness. If you're treated in the first ten days of life, you can be spared almost all of the symptoms. Despite spending the first ten days of his life in NICU for a skull fracture that seemed unrelated at the time, Lucas wasn't diagnosed and treated. Menkes is so unknown, no one thought to look down that line of research, questioning and testing.  What does diagnosing Menkes entail? Is it a simple blood test? It's pretty easy to spot Menkes if you know to look for it. Things like checking the hair under a microscope helps to discover twisted hair which is a strong indicator. A blood draw can tell you the copper levels are high. Ultimately, you want a genetic scan, but if you have these easier indications, the ATP7A gene can be examined further to reveal Menkes disease. What is Menkes disease? If you have a mutation in the ATP7A gene, you don't create the protein that transports copper. Most of us do fine with the amount of copper in our diet and it's not a problem for most people. Too much copper leads to Wilson's disease and too little copper leads to Menkes disease. Copper is needed for developing the brain, your muscles and hair. Lucas has very low muscle tone. He can move his legs, arms, feet and hands a little bit, but not with any control. He can't sit unassisted even at the age of eleven.  Was Lucas not hitting milestones which lead to a diagnosis after a year? One of the signs we saw of a regression was that he was able to roll stomach to side or back to stomach and then he lost that ability at eight months old. That was a big warning sign that we needed to seek out a diagnosis. In terms of a diagnostic journey, we were pretty lucky because it was very short. At four months old, he missed some milestones and we thought it was related to an early birth and the head trauma. Then at eight months old when he regressed, we kicked it into gear and saw a geneticist. For as rare as this disease is, that geneticist had seen other cases of Menkes and came back with a definitive diagnosis months later. Meanwhile, I had researched and determined that it was either going to be Wilson's or Menkes and I was rooting for Wilson's because you can live a longer life with Wilson's, but it wasn't. If it's simple to notice, has there been any movement in making this part of newborn screening? Just in the last year, there's been a lot of progress, thanks to the Menkes Foundation. Thanks to their effort, a newborn screening is now 99% accurate and is required in six states. Menkes Foundation is working with the Every Life Foundation to get this in place across all 50 states because there's such an effective treatment once it's diagnosed. What is the treatment within the first ten days of life? It's simple. You inject copper into the body. If you can process copper at all, increasing the amount of copper available in the system increases the opportunities. So much development is happening in the first ten days and to be starved of copper at that time is critical.  When you get a diagnosis like this, it's heavy. How has this been a gift and a challenge for your family? I wrote a piece on The Mighty, my first coming out at  a rare disease person and eventually an advocate. The piece was called "How Parenting a Dying Child Has Changed All My Expectations". You go through grief, of course. You have a diagnosis that says limited lifespan and it's a death sentence. You come through that grieving process and realize that what you're grieving is this expectation of what you thought you were going to have and what you thought a normal, healthy child was going to be. It takes a considerable amount of time and thought to get to the other side of that where it's bad, but not 100% bad where there's still good. You can say it's a death sentence, but it's not tomorrow's death sentence. There's some amount of life together with the child. How do you want to live that life? Any amount of wisdom I've gained from this starts to sound like well worn adages we already know, but when you really live it with no other choice you can embrace it more.  What have you found to help when you have caregiver burnout? Very infrequently, my wife and I have a date night or a night without kids and that can help. I find writing the blog, making a film or public venting about where I'm at can be a relief. Public venting is a way of double-checking myself, determining if I'm feeling self-pity or if it's a real crisis or if anyone else has gone through something. When you hear back from people, you can recalibrate yourself. Even if you aren't trying to advocate for your child or others where more openness and transparency is better, the sharing part is worth it because people can be helpful to you. No one wants to be part of this club. It's a terrible rare disease club to be in, but once you're in it you realize how many amazing people are out there. When you tell your struggle, it's more likely people will share with you on a deeper, truer level. Let's not be afraid to tell eachother how tough it is sometimes. You've co-created the Rare Disease Film Festival which is amazing. Tell us a little bit about why you started it. After I wrote the first piece on The Mighty, Global Genes named it the Rare Patient Story of The Year. That made me think there was value and it served a purpose, not just for me but for others. I had a bit of a background in filmmaking, had made a few films and I made a film about Menkes disease in 2015 called "Menkes Disease, Finding Help and Hope". I wanted to change the Google results when people got this diagnosis, that they didn't just read the horrible prognosis that their child would live 3-10 years, but you'd find this video. Having made the film, the next step was figuring out where it could be shown, the best audience and the best ways to get it seen. Posting it online was useful and got us to a certain point, but then I met Bo Bigelow at Global Genes and he was doing similar things with his podcast and blog. He was talking about making a film and I brought up the issue of where the best places to show films like this would be. Although there were film festivals that focused on health or science topics, none focused on rare disease. In 2015, we did the first film festival in Boston and it went very well and people responded well to it. The next film festival is this May in NYC.  How does a family go about creating something to submit to your film festival? We have a range from the ones of people pointing the cell phone at themselves and telling a story, which may not be the best way, but is a valid way of doing it. It's about the power of the story you're telling and not so much the way you're telling your story. We have had people find a filmmaker locally that's willing to do this as a passion project or work of charity. There are also people who are seasoned professionals and well funded. One of the things we're doing for the first time at the NYC film festival is we're going to have a hands-on workshop with seasoned filmmakers who can give people tips.  Have you found that a doctor or researcher has seen a film and decided to pick up one of these rare diseases and studied it? Yes and that's the goal. We wanted to structure it so people would take the information they get from the films and start new conversations and compare notes and make connections that would move towards treatments and cures. At our first festival in Boston, a woman named Janis Creedon who appeared in Rare in Common and spoke on a panel we had, has a son who is still undiagnosed. She's struggling with that thinking he's the only one in the world. A CEO from a diagnostics company spoke and he was talking about how he could diagnose rare diseases and find other people with those rare diseases. Janice stood up and asked if he could help her son and he said he could. This past festival in San Francisco, a woman with Fraser syndrome made a film about her condition and interviewed others who had it too. When she was done with the Q&A at the festival, a geneticist came up to her and said they could help. Those are the things we like to see happen. What are some words of wisdom you'd share with a family at the beginning of their diagnosis journey? The hardest parts are at the beginning of the diagnosis. It gets easier with time. One thing that helps is when you find your people and that's probably going to be a Facebook group or even an in-person group. Seek out that community who will understand where your questions are coming from. While a community may not be a source of all the answers, it's a source of comfort and it's often more reliable than your doctor's answers.    LINKS AND RESOURCES MENTIONED The Mighty  Rare Disease Film Festival Menkes Foundation  EveryLife Foundation  Global Genes Menkes Disease: Finding Help and Hope How Parenting a Dying Child Has Changed All My Expectations Menkes Foundation Australia  Finn  Our Curse   Rare in Common  Daniel’s Blog TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 014 A Fellow CTNNB1 Mama Tara Bryant is a special warrior mom who has a young son with CTNNB1 and she's sharing her heartfelt story with us. I connect with her as a mom, going through the same things with CTNNB1, we're both hair stylists and I love the real stuff she shares- stuff we're all living through and not necessarily talking about all the time. EPISODE HIGHLIGHTS Tell us about your son Titus. Titus is three and a half, he is rambunctious and very driven. He has come such a long way and we're so proud of him. With CTNNB1 comes a lot of challenges, but we do our best each day to get through them and continue on.  Is Titus in developmental preschool? We planned on starting a program two days per week for four hours, but we took him for the assessment and they weren't equipped to accommodate Titus. We knew that wasn't the right fit and that he wasn't going to get the help he really needed in that program. That's when we got the autistic diagnosis and we started the full 40 hours per week in ABA therapy. Right now he's not learning his ABC's or how to tie his shoes or count. He's learning to be verbal, to request things through signing and to pull up his own pants in preparation for potty training, so he's learning differently than other kids his age in preschool. Right now, the skills Titus is learning are more important.  Did any of the healthcare professionals that were helping you ever steer you in the direction that Titus had some developmental disabilities? Not at all. Coming into this, I didn't know what was offered or what was available. I just went into it blind. Everyone kept saying Titus was behind, that he was so small for so long that he just needed time to catch up. Eventually, I thought enough is enough, I spoke to his physical therapist and she thought maybe he had a mild form of cerebral palsy and that we should see a neurologist. The pediatrician gave us a referral, we went through the CT scans which came back normal. They said there was no proof of cerebral palsy, but he had all the traits and they didn't diagnose him. I wasn't okay with that and we went onto another neurologist. By this time, Titus needed glasses because his eyes were crossing. We met with the other neurologist and he said he didn't think genetic tests would do any good. Thankfully, a genetic specialist who read his tests and reviewed the symptoms he was having, validated that something was wrong and felt it was important to find out sooner rather than later what it was.  You got an exome sequence test and they told you Titus has CTNNB1 Syndrome. How did you take that news? We were chasing a diagnosis in hopes to get answers for how to help our son who was struggling in so many ways, thinking that we'd find out what it is and have answers from there. When we received the diagnosis from the specialist, we were more lost than we were before. The specialist directed us to a Facebook group of other parents with children who had CTNNB1. When I found the group, we were there when so many others were getting their diagnosis too. I hoped everyone had the answers to all the questions I had and they didn't. I realized that every parent on there knew exactly how I was feeling. My husband dealt with the diagnosis very differently. Even he didn't know or understand everything I was feeling. I have found that talking to people about how I was really truly feeling helped. I have a great clientele base who have become friends over the years and they all keep track of Titus. They are so thoughtful of my feelings, asking how I'm doing and it's easy to talk to them. I have a huge support group that I can talk to and I finally found the more I say it out loud, the easier it is. You have to first completely break down and be real and be raw before you can really start accepting the diagnosis, where your life is and where it's going.  With having an older sibling, a typically developing little girl, how have you found that it has changed her? At home, it's a challenge because Titus has certain things that set him off. Crying is one of them. When she falls and hurts herself, I have to hurry her into her room so she doesn't cry in front of her brother and cause him to cry, bite himself and bite her. I feel guilty because I'm not able to comfort her. I have to comfort her brother, then go comfort her after I've gotten Titus into a safe, soft spot so he doesn't physically harm himself or anyone else. My daughter is ten now, so she's old enough to understand and she wears all the shirts to school and she's really knowledgeable about CTNNB1. She's happy to tell anyone what she knows and goes above and beyond to make sure they're treated equally and she's become such an advocate herself in her own way.  What is Titus doing now that he wasn't doing a year ago? How fast is he progression? We started getting Botox about a year ago in Titus' hamstring area and calf muscles. He's a toe walker and before Botox, it was so hard to get him to walk with his heels down. He learned to fight it, but the gait was way off to where it was going to cause problems with his hips. We started the Botox and from there, he was able to stand up by himself and walk for a lot longer distance and he was able to climb on everything. It gave him a lot more movement in his knees and hips. He was walking prior, but when he fell over, he would have to crawl to somewhere to pull himself up. We were very thankful that the Botox helped in the way it did. He's also picked up a lot of sign language through speech and ABA therapy. He will say words, probably about ten, but says them infrequently. He communicates through his pecs book and we just got him fitted for his AAC device.  What are you doing for you to take care of yourself? Just recently is when I decided that I need to start taking better care of me and not just being Titus' mom and revolving everything I do around him. Before Titus, I always trained in the gym and I recently just started doing that again. I go super early in the morning so it doesn't take any time away from my typical day. Every now and then I go to dinner with a girlfriend. I'm making a point to have mother-daughter dates with my daughter because I know she misses out on a lot that she wants to do because Titus is limited in what he can do and I'm trying to get that quality time in with her.  What do you know now that you wish you could have told Tara in the beginning of this journey? I wish I would have fought a lot harder in the beginning when the doctors and specialists fought me on things and I just stood by and thought they knew best.  LINKS AND RESOURCES MENTIONED Parent’s Facebook Group  Proloquo2Go TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 013 Sibling Support On the topic of siblings again this week, we'll be talking about the sibling perspective and the support available with Emily Holl, the Director of the Sibling Support Project. Emily is a social worker, writer, trainer, and sibling. Over the past 16 years, she has provided workshops, training, and groups for siblings, families, and individuals with disabilities. She has presented and written extensively on sibling issues, has conducted and published sibling research, and has facilitated Sibshops for young brothers and sisters of children with disabilities.  EPISODE HIGHLIGHTS Tell us about how the Universe brought you to the world of sibling support. The short answer is that I myself am a sibling and I have an older brother, Peter, who has an intellectual disability. He really is at the center of many personal and professional decisions and I'm really grateful to him because if it weren't for him, I wouldn't be doing this work that I love so much. I wouldn't have met so many other incredible siblings who have a lot of insight and wisdom to share.  Did you join a sib shop when you were young? I travel a lot and have the pleasure of meeting so many other adult siblings. I echo their same sentiment that I wish there were Sibshops when I was a kid. I didn't discover Sibshops until much later when I was a young-ish professional working in the disability field. A colleague of mine found Sibshop facilitator training by Don Myer and thought it would be a good idea for us to attend. I attended that training and it really changed my life because I not only realized there's a whole organization dedicated to supporting brothers and sisters like myself, but through that training I was able to understand my own sibling experience in a much broader context. I recognized that my experience shared so many elements with other brothers and sisters and from that point on it really inspired me to do everything I could to create sibling support for the families we were working with.  I haven't imagined my child as an adult not knowing what to do if they had to take over.  Especially as parents with young children, it can be daunting to consider the future and consider a time in the family's life when we as parents are no longer able to care for our children in the way we traditionally have. For the best reasons and with the best intentions, parents often don't share information with their typically developing children. We always encourage parents, even of young children, to keep that door of communication open so that when the time does come to talk about future planning, it's not uncharted territory, not a taboo subject undiscussed by the family. Even if parents don't have answers, communication can go a really long way. They may not want to burden typical developing children with thoughts of future caregiving, but siblings are already thinking about the future. Making that an okay topic to discuss is an important way for parents to support siblings. What do you do now with Sibshops? Don Myer retired and there was a national search for this position and I was the very lucky person honored to be offered the position. We moved from New York City to Seattle where the Sibling Support Project was founded in 1990. There's a long history of self and parent advocacy in the United States and we have them to thank for the creation of the disability services and supports that exist today and for many of the laws that reinforce them. As it turns out, there's also a lesser known history of sibling advocacy and sibling support and that really starts with Don Myer who started the Sibling Support Project. Don created a Sibshop which is central to the work we do today and to the support that thousands of siblings receive across the country and around the world. Fundamental to the Sibshop model is providing information and support to young brothers and sisters in a highly recreational and fun setting. We travel the country and train organizations, children's hospitals, disability service providers, parks and rec departments, schools and any other place you may find children with brothers and sisters with disabilities. We train organizations on how to support young kids in a way that's meaningful, fun and really speaks to kids. How do organizations and programs get in touch with you to organize a Sibshop? We're always grateful when organizations find us because they notice siblings are left out and they want to change that. A lot of times, people research the Sibshop model and will get in touch with us to learn more about it or they have seen a Sibshop at another organization and want to recreate that for their organization. How long and how often are Sibshops? There's a lot of flexibility in the Sibshop model so organizations can offer Sibshops on varying schedules. What we ask is that people who are trained and who are certified and offer something called a Sibshop really ensure the program upholds our best practices, what we call the Sibshop Standards of Practice. These are our best practices to ensure a parent sending a child to something called a Sibshop is sending them to a program that is aligned with our model and grounded in our mission and values. What can we do as parents to make sure we're balancing the attention we're giving to our children? Make sure you're providing siblings with age-appropriate and accurate information from a variety of sources. Particularly with school-age children, they need to have information about the disability to explain it to other kids who may not ask questions in the nicest way. For younger children, providing information should be ongoing as their understanding of the world becomes more sophisticated. Leave an open door for children to ask questions. Provide siblings with opportunities to meet other siblings--  Sibshops is a great way to do that. There are other agencies that host walks and picnics and that's also a great opportunity to carve out time for siblings to meet each other. Beyond open communication and the principles of active listening, allow siblings to express the good and the not-so-good parts of having a sibling with a disability and support them in saying that out loud. Set aside special time with typically developing children. A little goes a long way. How old do kids need to be to attend Sibshops? Typically they're for kids ages 8-13. There are Sibshops around the country that are changing that a little bit to include teenagers, so they're modifying their programming to include slightly older kids or even slightly younger. Have you found that most siblings grow up to be in a compassionate field? What we know from research is that siblings go into helping professions much of the time. We know typically vocation is one of the perks that siblings identify, based on the experience with their brothers and sisters, that they felt really drawn to a helping profession that gives them a lot of gratification. Siblings who don't go into helping professions often give back another way.  CONNECT WITH EMILY Email: emilyholl@siblingsupport.org LINKS AND RESOURCES MENTIONED Sibshops at Kindering Thicker Than Water: Essays by Adult Siblings of People with Disabilities The Sibling Survival Guide: Indispensable Information for Brothers and Sisters of Adults With Disabilities Sibling Support Project Start a Sibshop Sibshop Standards of Practice Sibshop Directory How to Talk So Kids Will Listen & Listen So Kids Will Talk TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast   CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 012 My Favorite Pair of Genes As my daughter Esme's first birthday is approaching, it's bringing up a lot of feelings. This is an episode of deep thoughts with Effie.  EPISODE HIGHLIGHTS I've wanted to be a mother my entire life. I was blessed with an exceptionally nourishing mom and I had 12 siblings. Naturally, I wanted to have a bunch of kids myself and I wanted to give my kids siblings that would be by their side no matter what. When I met the man of my dreams, he shared my desire to be a parent. We were so excited and planned to have three kids as soon as possible.  My pregnancy with Ford was beyond perfect. Casey and I would chat about our future son and what he might be like, how kind he would be, about him going to prom, graduating high school, leaving to find his own path in the world. Our beautiful son Ford has changed our conversation of what the future might be like. I don't know what dating or graduating high school or leaving to explore the world will be like. I'm sure it will be much different from what Casey and I used to dream about. We will most likely be caring for Ford for the rest of our lives.  After we got a diagnosis for Ford, people would ask me if we were going to have more children. I had to put my game face on when I was asked that dreaded question. I never knew if it was coming from general curiosity or if they were hoping I would say no. I would always answer with a firm absolutely. We didn't feel like our family was complete and we wanted to give Ford a sibling.  Esme is a beautiful, funny little girl who loves her brother. Ford lights up every morning when I take her to his crib. This is a complex topic I have to take day-by-day. How do I make this experience fair for Esme? How do I protect her from the pain it may cause her throughout her life? How do I put the burden of caring for Ford on my little girl? How do I help her discover her brother isn't a source of frustration, but a unique person who has his own gifts to contribute? I imagine all of these questions as stages of grief passed onto Esme. How do I not give her another sibling to share this emotional burden with who can help carry the load? Casey and I don't know if we will be able to have another child or if we even should, but the doors are not closed. I think about these fears, questions and life decisions a lot. I still don't think I comprehend how having a brother like Ford might shape Esme, but I have faith that she will wield all her powers for good. I need to make sure she never feels like she's left in the dust, as our day-to-day tends to revolve around Ford. I wonder how to manage the delicate balance of taking care of both Esme and Ford and not putting pressure or burden on my little girl who doesn't deserve such heavy worry. A friend recommended the podcast, Finding Fred to me. Listen to Episode 4: Beth, a story about a little girl with an extremely serious condition called Rasmussen's. In this episode, Mr. Rogers went to the hospital to visit this little girl and brought a special present for her brother. He knew how important it was to make the little boy feel less scared and more special. That little boy was the one who knew how scared his sister was, how stressed his parents were and how much pain the family was in. Mr. Rogers made sure to let the little boy know that he saw him. This episode really stuck with me has created a baseline for my parenting.  I'm excited to learn more about siblings from my future guests on this podcast. Even if it feels like it, it's not all about Ford-- but don't tell him that! I'd love to hear from other siblings and parents who share some of these same thoughts with me. Please message me to connect. LINKS AND RESOURCES MENTIONED Ep 4- Finding Fred Podcast: Beth TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 011 Rollin' With Spina Bifida Joining me today is Whitney Stohr, a master advocate for her son and others in the community. There's a lot to learn from her family and a lot of good information in our conversation.  EPISODE HIGHLIGHTS Tell me about you son Malachi  He is almost 21 months old, adorable, the most social little guy you'll ever meet and he has Spina Bifida. Spina Bifida means that in-utero, very early in a pregnancy the spine of the baby doesn't form like it should. As a result, when the child is born, there's an open area on their spine. During the development later into the pregnancy, the nerves that go down the spine are open to the fluid inside of the placenta and to the air when they're born, causing damage to the nerves. It can cause numerous related disabilities, usually impairs mobility and often leads to Hydrocephalus, or water on the brain. Hydrocephalus is caused by the Arnold-Chiari malformation, which is where the spine is open to the air and it tugs the spinal column down, brings the brain down to the upper part of the neck and blocks the fluid that naturally occurs on the brain. This causes a buildup of fluid on the brain which requires surgery to place a device in the brain to help drain it.  When did you find out that Malachi had Spina Bifida? We got our diagnosis just after my second trimester ultrasound where everything looked great and my regular OB didn't see anything. I had the quad screening and that showed an open neuro tube defect which is what Spina Bifida is. They brought me back in and sent me to a specialty clinic to do a high resolution ultrasound. I went into research mode to find out everything I possibly could about the condition. I feel like I didn't miss a beat in trying to determine what the next steps were.  Tell me about Malachi being born. Malachi was born in January 2018 at 35 weeks. I was living in Yakima, about 2-3 hours away from Seattle. We were flown over by medical flight in the middle of the night and taken to the University of Washington Medical Center and rushed into the operating room for a c-section. They couldn't get the epidural to work, so they had to put me under. It was traumatic because I wasn't sure if I'd wake up and even have a baby. They put me to sleep, I woke up in my hospital room and my husband told me Malachi was fine, in the NICU and being prepared for a transfer. They wheeled him up in his incubator, I got to meet him for the first time, say hello and say goodbye and send him on his way. Malachi was taken to Seattle Children's Hospital and had surgery to close up his spine. For the first surgery, they brought in a couple teams to pull the muscle and skin and literally zip up his spine. If the spine isn't closed up soon enough, there's a risk of infection so the goal was to get him into surgery as soon as possible. He was born in the middle of the night at 12:38am and had the surgery mid-afternoon the same day. Malachi spent the first eight months in the hospital. He had five other surgeries in this time. He had spinal surgery on day one and brain surgery on day two to correct the Hydrocephalus. He was born with congenital heart defects, so he also had open heart surgery at two months old.  You're living in Yakima, so where are you staying and what are you doing for eight months? My husband had to go back to work, so he was living in Yakima and commuting, working Monday through Friday and then coming to Seattle on the weekends. When Malachi was in the NICU and I wasn't allowed to stay with him, we were at the Ronald McDonald House, which was a godsend. Once he was moved down to a room, I lived in the hospital with him. It was a long journey to bring Malachi home. After his heart surgery, he started having a lot of trouble breathing, so before he could go home we had a tracheotomy and he became ventilator dependent. Part of our going home plan involved weeks and weeks of training on how to keep him alive. We were terrified to bring him home. In August 2018, we brought Malachi home to Yakima for the first time and it really kicked in then just how challenging it would be to be outside the hospital, trying to live a somewhat normal life and how many obstacles there were. Since then, it's been a learning opportunity every day.  How do you get out of the house with Malachi and all his stuff and get to an appointment? Not very well. It's a mess. I follow all these other medical moms on Instagram and a lot of their kids have trachs and feeding tubes and I feel like they're my heroes and they're so much better at it than me. I feel like a hot mess all the time. Malachi has to have a giant stroller, which I call the magic school bus. It's a sit and stand stroller made for two kids, I put his ventilator on the bottom where a toddler would stand and strap it on with bungee cords. We put his oxygen tank on the bottom and we travel with a giant red emergency backpack that has all of his spare equipment in it. We also have all the regular baby stuff like diapers and food. We attach his feeding tube and cords to the stroller with a clamp to keep from rolling them over.  How is he thriving so far with his new therapist? Is he in a co-op with Birth to Three or is he still too young? No co-ops or group therapies yet. We are hoping to, but the challenge right now is that it's cold and flu season and we're nervous to have him around other people. We'll be going into isolation in November until April or May. Hopefully by spring we can get him in a playgroup through the therapy center with other kids with disabilities and we're looking forward to that.  Can you tell me a little bit about what you've learned about being an advocate for Malachi medically and in general? I'm such a loud mouth and always have been. I've never been afraid to tell people to stick it when they need to hear it. That probably suits me well in this case. It has been different because I don't have a medical background and there's been a huge learning curve and I'm still learning every day, but as medical parents we can be an advocate in two ways. We can be an advocate for our kid, which is a given. We can also use our experience and the knowledge we gain to be an advocate for the community and for all kids and all people with disabilities or medical diagnosis. The disabled community is considered the largest minority group in the US, so whether we have disabilities or not, if we're going to be advocates for anything we have to include advocacy for disabilities. Opening my mind to that world has shown me how much privilege I have to not have to be aware of the issues that affect the disability community. I didn't have to be worried about good sidewalks or accessible parking spaces or accessible restrooms because it didn't affect me. A big part of this advocacy has been educating myself on these vast issues that affect people and kids with disabilities. It's been a practice in humility for me because I've had to accept that I was naive to these issues, but as an advocate it was a kick in the pants. It's important for medical parents to use their voice and to get involved however they can. There are ways that every single one of us can get involved and because we have this unique experience, it's so important that we all do get involved.  Can you tell me about the new organization you are a member of now? It's called Parent Institute for Engagement (PIE) ran through Washington State, the same program that runs the early intervention services statewide. They wanted to get more parents engaged and they wanted to give them the skills they need to advocate. This is not just advocacy for your child, but advocacy for the community, focused on a broader level. It's a year long leadership program, with seven people in my cohort and we meet once a month alongside the state interagency coordinating committee, which are government appointed people and representatives from different agencies. They come together once a month to talk about improvements, problems or how to make recommendations to state agencies on areas that need to be addressed. We have our meetings and learn specific skills. Last month, we learned how to tell our story for an advocacy purpose. Then we attend the meeting with the SICC where we get to meet all of the representatives and hear about ongoing problems. PIE is a group of really dedicated parents who want to be active advocates in their community and it's so fantastic. Anyone can apply, so I encourage other parents who want to be advocates and who want to learn those skills to apply.  What are your advocacy goals over the next year? I want to get more involved. Before Malachi, I didn't know much about disability issues or even issues happening in our own state and there are a lot of issues. I hope that through the PIE program and through other ways I've gotten involved in the community because of Malachi, that I make connections and get involved in the programs and campaigns that these groups are leading. Hopefully I can add my voice to the masses and we can make some change.  How hasn't having Malachi changed you? How do you feel it's changed your entire family bringing someone like Malachi into the world? Having a kid like this, being in and out of the hospital, seeing how much these kids go through just so they can wake up every day with a gigantic smile on their face is really profound how it affects you. I think it affects everyone you share your story with, which is why we do share our story. It's made me more focused, more of a serious and driven person. It's made me incredibly passionate about causes that are close to my heart. For the rest of my family as well, we've become very involved in issues related to Malachi's conditions. We've become a lot more outspoken about issues affecting kids like Malachi or kids with any other condition. Overall, your sense of empathy grows.  CONNECT WITH WHITNEY Whitney Stohr on Facebook: https://www.facebook.com/whitney.stohrhendrickson Malichi’s Journey on Instagram: @rollin.w.spinabifida Instagram: #spinabifida #redefiningspinabifida #hydrocephalus LINKS AND RESOURCES MENTIONED Children's Village Yakima Washington State Early Intervention Parent Institute for Engagement (PIE) Spina Bifida Association TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 010 My Pfeiffer Pfamily Synthiea Kaldi was the first person I knew to call when I was told something was wrong with Ford. I admire her so much and would be lost without her humor and understanding. Finding someone like Synthiea, someone who lives with a lot of hard stuff but can also find the humor in it, is a really valuable resource for your mental health and general outlook. It's not easy being a parent, especially when your child has a complex medical need. Synthiea is further ahead in this unplanned detour along a dirt road with a lot of potholes and I'm constantly learning from her. It's impossible not to feel the light that radiates from her and I'm excited to share our conversation about her beautiful daughter and their experience with Pfeiffer Syndrome so far. Today we're talking about Mallory, Sythiea's little girl.  EPISODE HIGHLIGHTS Mallory was born with a genetic disorder called Pfeiffer Syndrome, which is caused by a mutation in one of two genes- either the FGFR1 or FGFR2. These genes control bone growth in utero, signaling them when to grow and stop growing. When Mallory was born, all the sutures in her skull were fused except one. Usually you have skull plates floating around the baby's head and they fuse much later, some not even until teen years. Because Mallory's plates where fused, her brain didn't have the room it needed to grow, so it started growing places it doesn't normally grow. It pinched her ear canals completely shut, so she wears hearing aids. It also grew behind her eyes and started pushing them out, so there were quite a few surgeries she had very early in order to protect her eyes. A lot of times, kids with fusions have fused fingers and toes. With Mallory's specific type of Pfeiffer Syndrome, most have fused elbows. Mallory also has fused knees.  When Mallory was born, I remember looking across the room and her head was huge, the shape of the Planter's peanut guy, one of here eyes looked like it was ready to pop out and I remember thinking she was going to die. It wasn't the best birth experience, but Mallory didn't die. She had much bigger plans. They transported her to NICU and the doctors were pretty sure of her diagnosis when she was born, but had to do the genetic testing to confirm. In the course of about two weeks that she was in the hospital, she had a bunch of surgeries. They had to go in and perform a strip craniectomy when she was only five days old, where they cut open the skull and give the brain room to grow and relieve the pressure.  We were very fortunate in that when Mallory was born, the Medical Director of Craniofacial told the hospital to arrange for us to meet another family in the area whose daughter also has Pfeiffer Syndrome. He knew her mom and I would hit it off and so he made it happen. That family is now some of our closest friends. We can laugh about things with each other because we're not afraid to and when you talk to people who aren't going through the same thing, they probably don't find it funny, but also don't think it's okay to laugh about it.  Mallory has a trach, which is a little tube that goes into the base of your throat to help you breath. She got that when she was about four months old because she wasn't breathing right and wasn't breathing well. A big part of the problem was that when that lovely big brain was growing wherever it could to protect itself, it really squished a lot of her throat and airway. If she got sick at all, it made it impossible for her to breath. We got the trach and with that came home nursing. The trach is not necessarily permanent, but we don't know at this point if or when she can get it out. Mallory is just another kid. Yes, she looks different and she talks different and she's in a wheelchair, but at the end of the day she likes princesses just like most kids her age. She likes watching funny YouTube videos of babies and cats, playing games, reading, all the same stuff. I appreciate when parents encourage their children to say hello and if they have a question to ask. Treating us as normal as possible is the best thing you can do and teaching your kids to do that as well is the best thing you can do for your kids.  CONNECT WITH SYNTHIEA Synthiea Kaldi on Facebook: https://www.facebook.com/skaldi TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 009 The Washington State Fathers Network Along my own journey, I've felt passionate about capturing the perspective of fathers, grandfathers and other male caregivers. As moms, we may have an easier time connecting with other moms at therapy, school and on social media. My husband, a father with a child with complex needs has had a different experience than I have. I want to ensure we're both taking care of ourselves individually. I'm constantly reading Facebook posts about moms wishing there was someone for their husbands to talk to about their child with healthcare needs. Louis Mendoza, the Manager of The Washington State Fathers Network, is helping to give a powerful voice to men who have children with healthcare needs. Some of his work involves connecting men with each other socially, providing them with resources, telling their story, advocating for change and promoting inclusion in their communities. EPISODE HIGHLIGHTS  How does coming from a background of having typically developing children put you in the Director platform for the Fathers Network? I spent the early part of my career on the corporate side as a corporate trainer focused on training individuals to be supervisors. Then at one point, I became a stay-at-home dad and did that for over ten years. When the kids were old enough to be in school full time, I realized I had six hours or so of my day where I could be helping out with the family income. To get around the problem of not having to worry about daycare during school breaks, I decided I'd go to work for the school district to have pretty much the same schedule my kids had. The school district invited me to interview for a job in the special needs contained learning center. With no background or experience with children with special healthcare needs, I was very intimidated. I interviewed, got the job, did it for ten years and really liked it. I liked being involved with the special needs community and really liked working with the parents. While I was working with fourth, fifth and sixth graders at Woodmoor Elementary in the Northshore School District, I was introduced to Kindering and began doing some volunteer work there and eventually began working for the Fathers Network. In several of my moms groups, we talk about not knowing what the dads are going through, that we're alone, that they don't talk much and the Fathers Network is great for bringing them together.   It's a challenge to get men to be involved with something like this and there's no real good answer for how to engage them. The Fathers Network was established in 1978 and was started as an assignment for a group of graduate students. They were given the assignment to create support groups for fathers, grandparents and siblings who had someone with special needs in their life. The Fathers Network became part of Kindering in 1985 and has filled the need of helping men engage with other men who have a special needs child in their life. When two people have a child, whether the child has special needs or not, dads tend to be more removed because in our society, even where both parents are working, it's still primarily the norm that the mom takes kids to school, doctor appointments and after school activities. Dad is a little removed with what's happening with the kids, but when you add the special healthcare needs component to it, there's even more isolation. Mom tends to have a better social network and she's willing to tap into that network and ask for help where dads become more isolated and not asking for help or talking to anyone. Even where the diagnosis may be different, the opportunity to meet other men or a group of men who are going through the same experiences with their children, can be really powerful. That's why the Fathers Network was created- to create those connections, supports and resources for men who have kids with special needs. I want the Fathers Network to been seen as an organization that promotes and works to make our society a place where everyone is welcome everywhere and accommodations are built in to make that possible.  How do you get men to come to the Fathers Network and be a part of it and how do they find out about it? It's not easy to engage men. Most men come to us because their wife or significant other has told them to come. A lot of men want to be problem solvers and take care of things, so part of engaging them is making sure what's offered is more of a benefit to the child then to them. They don't want it to be about them, but they want something to help them to help their child. There's no one answer to this. We have one-on-one meeting opportunities, support groups, resources, social activities, conferences and even family activities. Can you talk about the personal story workshop?  Telling Your Story With A Purpose is a workshop that was developed by a couple of people at Seattle Children's and I've taken it over. Originally this was focused on just men, but because of low engagement, it didn't work out that way and we opened it up to moms and dads. The workshop takes parents through a process to get them to engage in advocating for something they feel strongly about that affects their families and other families as well. The process is built to prepare parents for advocating to a decision maker in a very short amount of time. We have them think about a challenge or problem they're facing or have faced and how the problem affects families. We avoid personal advocacy and focus on systems advocacy. Then we have them think about what needs to change and getting very specific about it. Then we have them think about who has the power to make the change. The idea is that if you share your story with someone instead of presenting data to a decision maker, that it's impactful, makes an emotional connection and they share your story. The workshop focuses on practicing, defining specific asks and having a clear message.  When fathers are looking for a resource and come to you, what happens next? What is the process? If they want to talk to me one-on-one in person or by phone, I'm happy to do that. If they need a resource, I can email them the information or direct them to those resources to research and read on their own. Sometimes a father's first connection with us is through a social event they've found out about. My observation is that social media has had an impact on how often we get men to come to meetings. When a father gets a diagnosis and turns to the internet for information, they tend to find a support group to join. For men that don't want to appear vulnerable, they can be anonymous, ask questions and get answers and information that way. For men that come to meet, talk and learn in person, they find so much value in that, but for some that's not for them and we try to accommodate everyone.  What changes do you see in the dads coming to the group and how do you see them change over time? It's very individualized. Some come to a meeting or social activity because they're pushed to and it's uncomfortable for them. It will take these fathers some time to get comfortable, loosen up and talk about his story. On the other extreme a father may be very willing to engage and if we weren't in existence, he would invent the Fathers Network. Then you have all the men somewhere in the middle. What we hope for the dad who has been pushed to be there is that he stays long enough to engage with at least one other dad, establish a personal connection and gets what he needs out of the meeting. Hopefully they all get to the point that they know there's a group of men out there that they can connect with when they need to. Can you tell me about some of your future goals for the Fathers Network?  I'm interested in expanding the network to provide more resources in other parts of the state, other groups and chapters in other parts of the state. I'd like to also expand the network into immigrant communities and communities of color. I think a lot of those communities are undeserved and those roles and the way the children are perceived are very entrenched. There are some additional barriers to work through in those communities, but the need is there and I'd like to find ways to impact that. I'd like to expand the work we're already doing, training men to be advocates and doing more to promote community inclusion.  How has it changed your perspective within the community and as a dad since working with people with disabilities and complex medical needs? It changed me as a dad when my kids were younger and I was working in a special needs school classroom because it helped me to provide my children with a different perspective on a community they may not have engaged with otherwise. For awhile, I was coaching Special Olympics and they got to come along and interact with the athletes. It helped me give my children a different exposure and that happened because I had a different exposure. When I left the school district and worked with United Way, my primary role there was training people of color to serve on the boards of non-profit organizations. That led me to connect with a lot of people who work in the area of diversity. In working with the special needs community, it has broadened my perspective on the definition of diversity. It's not just race, gender or sexual orientation. The issues regarding people with disabilities or healthcare needs is down at the bottom of the list if it even makes the list. It has given me a different perspective on diversity and the need for inclusion for everyone. That's made a real impact on me personally.    What is your most impactful, memorable stories? It's a story from the Fathers Network that has been handed down to me. It's the story of a dad who was coming to group meetings for awhile and then stopped coming. One day he showed up and said the only reason he was there was because his son has now been toilet trained and nobody he knew understood how important that was to him except for the other dads in the group. He came to share that. That wraps up in one story the importance of the Fathers Network and men connecting with men.   CONNECT WITH LOUIS Kindering Center Address: 19801 North Creek Pkwy, Bothell, WA 98011 Phone: (425) 653-4286 Email: louis.mendoza@kindering.org Fathers Network on Facebook: https://www.facebook.com/FathersNetworkWA/ Kindering on Facebook: https://www.facebook.com/KinderingCenter/ LINKS AND RESOURCES MENTIONED Kindering Kindering Sibling Support The Arc of King County Parent to Parent Program  Special Olympics TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 008 Heartism of the Bitterroot My guest today is a pillar in her community, starting an inclusive community center called Heartism Community Center, offering kids of any ability free cooking classes, art classes, yoga classes and more.  Jessica Fitzpatrick is the Founder and Director of Heartism Community Center and Bitterroot Arts for Autism, a Seattle non-profit serving special needs children and families. Her background is Therapeutics in Recreation and Psychology with a Bachelor of Science and a passion for understanding the world in a new way as an autism advocate/activist. Jessica’s daughter, Sequoia, launched Jessica’s journey into the depths of autism and sensory processing.  I'm so grateful to have met Jessica. She is a very special person with a gentle, captivating energy that vibrates warmly around you. She's one of the first autism moms that I've chatted with for the podcast, but it's interesting that these moms have a lot in common. They're calming and soothing to be around and talk to and they inspire me. I feel so lucky to have parents like this on my team. EPISODE HIGHLIGHTS Tell me a little bit about your daughter Sequoia. Sequoia is a vibrant fifteen year old typical teenager in many ways. She loves tacos, french fries, has crushes on boys and a terrible addiction to YouTube videos. She also has tremendous challenges with Sensory Processing Disorder and Classical Autism. She struggles with everyday things like getting dressed, personal hygiene and even attending school. She's in a school now that she's having a lot of success with and she's able to attend for a length of four hours on Monday, Wednesday and Friday, which is an improvement from before. She gets overloaded in public places, especially where there's pressure to perform.  Tell me about the beginning, when you noticed Sequoia was different or not hitting milestones.  We had a traumatic birth and even after her birth, I kept asking the doctor if she was okay. She sat up, rolled over and did a lot of things on time. One of the things that stuck out was sensory issues, but I didn't have a word or category to understand that yet. I had several sensory processing issues growing up that I still struggle with today, so I naturally accommodated to the things that stood out the most. When I would walk downstairs with her, she had this sensation that she had been thrown and her whole body would tense up and she would scream. I learned from that to hold her tight and tiptoe down the stairs carefully and that solved that sensory problem. If she were in a room where there was food, she would immediately vomit, especially if she smelled meat. She had very hyper-sensitive reactions to the smell of food. I learned to keep her away from food, I couldn't wear her while I cooked or prepared food and there were certain accommodations I made and didn't think much of it. When she was almost a year old, I would smile and clap and she would look at me confused. For the most part, she was hitting milestones, but I took her to the doctor at eighteen months because I was concerned that she couldn't walk. By the time she was two years old, she still couldn't walk and that's when we got the first diagnosis of global delay because she also wasn't talking much. We started physical therapy right away and the physical therapist was the first one to present Sensory Processing Disorder. I had no idea. I started researching, reading books, understanding that piece and helping her integrate her sensory systems. By age three, we had been working with a case worker and she suggested an evaluation. They were unable to do a cognition evaluation and we had an autism diagnosis. I wasn't prepared for that. It was a buzzword twelve years ago. I was at a stage where I wasn't going to label my child and then, stamp, we got an autism diagnosis. I wasn't prepared, but I'm grateful now because it put us on the right track. Did they do the full 40 hours of ABA therapy 15 years ago? No, there was nothing like that. We signed her up for special needs preschool with five kids with special needs and five kids that were typical, so they had the peer model. That was two hours two times per week for the first year. Then she got speech, physical therapy and OT two times per week. That was less than ten hours of therapy weekly which was minimal. The next year she was able to attend four days a week to receive more stimulation and therapy. It still wasn't nearly the resources she needed to help her rise to meet the challenges.  Were you just trusting your mama's intuition on how to parent on a daily basis and learning about the diagnosis? Yes. When she was five, we did the Play Project, which is a program that teaches parents how to work with the child in a way that the child leads and the parents follow. She responded really well to that and I was very grateful to the Play Project and the people that did that because they came into our home, videotaped us playing with our child, then would give us a CD with commentary. We had already been in therapy for three years and the therapists were trying their best to get her engaged and she had no interest. It's hard to trust someone, but it worked. As soon as I made the switch and made Sequoia the leader, she was empowered. She knew I was going to do whatever she did and it helped to strengthen our relationship and increase her trust in me so that later when I was showing her things, she would imitate me. That was the whole point, really deepening that connection.  In the beginning, what did it mean for you for your child to have a diagnosis? It was difficult because there was already an undercurrent of struggle. She didn't sleep through the night for the first three years. She would wake up and would scream every two hours. After three years of that, I felt half crazy already, waiting and hoping for things to get better and then we got the diagnosis which was so heavy. I didn't waste much time being upset, it was feet to the ground running. I was reading books on autism and reading that they were curing it. We did every supplement, every diet, every imaginable thing we could afford and implement. We worked with a Defeat Autism Now (DAN) doctor and we tried so many different supplements. Behavior-wise and cognition-wise, nothing really changed. No matter what we did, there was never a magic bullet or golden key over a decade. Now, we manage her sleeping and digestive disorders with diet and supplements.  I've been reading about Autism and a movement towards not correcting, but wrapping our arms around the behavior.  You're speaking to stemming, which is a person's reaction to their environment when they get overloaded. You may see hand flapping, clapping or rocking back and forth and that is their body expressing the emotion they're feeling and it's a way to get the excessive energy out of their body. My daughter rocks back and forth when she's happy, so it's the emotion coming out when she's excited. To touch on a different behavior that comes with Autism, Sequoia has been showing some extreme self-injury behaviors when she's frustrated. It's a common trait with Autism. Just pausing for a moment and allowing yourself to feel, thinking what is the general vibe or what is a child trying to convey. I watch people's faces light up when Sequoia runs up to them because she brings joy. She runs right up to people she doesn't know, that she's never met before and she doesn't care. These social norms have no control over her. Wherever we are, she'll jump right into people's bubble and the look on people's faces is priceless. I watch with a big smile and usually, I get a huge smile in return. Occasionally, there's somebody who doesn't want her in their space and I'm right there stepping in as Mama. If I can tell they don't want her interaction, I grab her hand and pull her away gently. There's always someone else and you'll find a smile somewhere.  Tell us about your community center that you started and what Sequoia has inspired. Five years ago I started a non-profit, Bitterroot Arts for Autism, under a larger non-profit, Bitterroot Research Conservation and Development. They took on our project because they look at children as a resource. I started Bitterroot Arts for Autism because I wanted to do art, projects with the kids, cooking and summer camps, all these different ideas I had, but I needed a funding source. That was a big success and a lot of fun and after two years of that we realized we needed a space of our own. We raised the funding and opened Heartism, healing arts for autism and all abilities. We have been operating for three years and it has been a journey with bits of success around every corner. We started offering free art classes with someone who leads painting activities. We offer a series of different life skills and cooking classes, music and movement classes, summer camps every summer with sensory art, gardening and cooking. It's been a lot of fun, new discovery and a learning process for me of finding the balance of what the communities needs are and what people will show up for. We want really high quality, useful and fun programming to bring people together. The neurotypical population is also invited to come in. We encourage middle school and high school kids to volunteer to work with our kids and it's a win-win. Our long term vision for the center is to have a bakery where kids can transition into adulthood, work to do something they love and the community can enjoy the bakery. Community is so important and it's something that's missing for a lot of families. I hope this idea of creating sacred space for all of us will spread far and wide.  Tell us about your TED Talk, Autism and Community Inclusion. I was really scared when the suggestion came up that I do it and my first response was no, pick someone else. I got pressure from friends, I sat on it for a few days and I had to get psyched up for it. I have my own sensory issues and I had a fear of being up on stage with bright lights in my face, but somehow I pulled it together and got through it. Sequoia didn't come here to sit quietly. She's making big waves and I am honored to follow in her wake. I never saw myself in this circumstance, but I wouldn't be anywhere else. What would you tell another parent that's struggling? It comes down to the loved that I had for Sequoia. There was nothing that I wouldn't do for her. I saw her as an innocent byproduct of this diagnosis. A lot of parents feel that, but also a sense of hopelessness and being overwhelmed, not knowing what to do. There are so many things we draw our strength from, whether God, spirituality, family, friends, community or whatever it is that fills your cup. That has to be a focus in a time like that to take care of you so you can take care of your child. Find those resources for yourself and be willing to make yourself a priority.  CONNECT WITH JESSICA Heartism Community Center, Bitterroot Arts for Autism Facebook Page Heartism Community Center Address: 1120 Main Street, Corvallis, Montana 59828 Phone: (406) 210-2937 Email: bitterrootartsforautism@gmail.com LINKS AND RESOURCES MENTIONED Jessica Fitzpatrick: Autism and Community Inclusion TED Talk The PLAY Project Autism Intervention Program TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram