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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/
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