Podcasts about raregeneticdisorder

Music provided by Scott Holmes

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

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

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

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

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

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

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

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

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

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