Once Upon A Gene (Effie Parks)

ONCE UPON A GENE - EPISODE 118 Ambiguous Medical Plans - How to Figure Out a System Even When it Seems Impossible with Parvathy Raman Krishnan Parvathy Krishnan joins me to discuss being an administrator for your kids and the uncertainty that stems from not having a care plan in place, like when you have an ultra-rare disease kid like she does. She has endured more than most on her rare parenting journey, yet she perseveres every day with courage to advocate and make a difference. To know her is to love her. EPISODE HIGHLIGHTS Tell me about your rare disease parenting journey. About 8 years ago, my son began experiencing bloody stool and he had his first colonoscopy at 6 years old. He had polyps in his colon, so he continued having colonoscopies to see if he improved. Genetic testing didn't reveal any answers. At 8 years old, he had his first major surgery, a proctocolectomy to remove his large intestine and rectum and he got an ostomy bag. Through additional genetic testing, it was revealed that he had a rare condition called Constitutional Mismatch Repair Deficiency (CMMRD). Because it's such a rare disease, there's no treatment or standard of care. My daughter was born around the time my son was having his first colonoscopy done. When she was 6 months old, we were told she had a genetic condition called Bardet-Biedl syndrome (BBS). Through her lifetime, she was identified to have three additional rare diseases and passed away at 4 years old.   What does it feel like when a doctor says they don't have an answer or don't know what to do? It feels honest. When they did genetic testing, we were told our son was the only patient with CMMRD in North Carolina. Then we went to Boston where we were told he was the only patient in the country. We went to Toronto where they run the largest research study on the condition and were told he was the only patient in the world. We realized it would be really difficult to put the puzzle pieces together with no other patients to fill the gaps. The condition is ultra rare and it's been difficult. Is there hope in not knowing? For us, knowledge is power. We didn't know the affected genes were in our family, but because of our children, five adults in our family now know they're carriers of the defective gene. It's powerful for them to have the information when planning for a family in the future. There’s hope in knowing because we can be proactive in our son’s treatment and screening. What resources have you discovered to be helpful to care of your family? It's okay to say no when you need to and ask questions before you say yes. My biggest support has been social media and connecting with other advocates that give me hope. We're all rare, but we're not that different. Our struggles and wins remain the same and in the end, we're all connected as patients or parents. Following others, despite their diagnosis or journey, helps me to keep things in perspective. Global Genes and Courageous Parents Network are both great resources and provide comfort as we move through grief. LINKS & RESOURCES MENTIONED Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K The Disorder Channel https://www.thedisordercollection.com/ Global Genes https://globalgenes.org/ Courageous Parents Network https://courageousparentsnetwork.org/ CPN Family Podcast Series https://courageousparentsnetwork.org/podcasts EveryLife Foundation https://everylifefoundation.org/ 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 168 Being Brave, Curious and Motivated to Help Make a Difference with DLG4 Research Mama Payal Patel I met Payal Patel at the 2022 Global Genes Patient Advocacy Summit. She's digging in and getting things done, she really impresses me and you have to meet her. You'll definitely be seeing more of this rare mom.  EPISODE HIGHLIGHTS What led up to your attendance at the Global Genes conference last year? My daughter was diagnosed with a rare disease in July 2022. I had just met another mom whose child had a mutation on the same gene and she mentioned the Global Genes conference. I decided to go, but upon arrival, I felt really out of place not knowing anyone there. I didn't know what to do and I wasn't confident in putting myself out there to network. I told my husband that I was going to fly home and he convinced me to stay and see what happened, and I'm glad I stayed. It was a magical three days of networking, learning and meeting mentors.  How did you find the courage to go to the Global Genes summit after getting a diagnosis only a couple months earlier? When I got the diagnosis, I wasn't in a good head space, but the idea of doing nothing scared me more than taking the leap of going to the conference. It was a good starting point to go and see what others were doing for their kids and it was the best decision I made. I made so many connections with rare disease advocates that have helped me to get to where I am.  How did you teach yourself about DLG4 and determine your next steps? A month after diagnosis, I shared the information within my network on Facebook and asked for help. I asked specifically for scientists, doctors and geneticists to help and so many people stepped up. A friend invited me to visit her in the lab to explain the science around how proteins work. Another friend who is a genetics counselor met with me. I attended the Global Genes summit, but I also kept researching and figuring out what to do next. I read blogs, listen to podcasts, talk to patient advocacy groups, network and ask questions.  What are you planning for right now? I feel strongly after talking to doctors and patient advocacy groups, that I want to do a drug repurposing screen for our gene. I'm taking things one step at a time-- the most obvious is a drug repurposing screen that isn't going to cost an amount of money I can't raise and it'll be impactful in the short-term for anyone impacted by DLG4. Looking at the big picture, my confidence takes a hit, so I'm taking things one day at a time, understanding that I can't control the variables of the future. LINKS & RESOURCES MENTIONED ONCE UPON A GENE - Episode 094 - The 12 Commandments to guide you when you're starting a rare disease patient advocacy group. With Nasha Fitter and Mike Graglia https://effieparks.com/podcast/episode-094-mike-and-nasha Save the Date for the 2023 RARE Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ 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/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

A Family Plagued with Rare Genetic Disease, Adrenoleukodystrophy with Diane Kane If you haven’t listened to Episode 38, Rare Like Us with Taylor Kane, go back and listen to that episode here. Taylor Kane's mom, Diane Kane, had two toddlers when her husband was suddenly diagnosed with a rare disorder called Adrenoleukodystrophy (ALD). I'm in awe of her strength, grit and grace as a caregiver to her husband John, all while being a new mom, working and preparing for all the ways ALD would disrupt her family and change it forever.  EPISODE HIGHLIGHTS What is ALD and what are the symptoms? What happened after the Adrenoleukodystrophy (ALD) diagnosis? How were you able to manage and cope with the diagnosis and life at that time? What wisdom can you share with other caregivers? LINKS AND RESOURCES MENTIONED EPISODE 038 - Rare Like Us with Taylor Kane https://effieparks.com/podcast/episode-38-rare-like-us-with-taylor-kane Rare Like Us https://www.amazon.com/Rare-Like-Us-Finding-Plagued/dp/1543978819 A RARE Patient Advocacy (un)Summit https://globalgenes.org/event/live/ Global Genes https://globalgenes.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

ONCE UPON A GENE - EPISODE 133 The Unique Expertise of a Genetic Counselor - Helping Rare Disease Individuals and Families Navigate Through Complex Emotions and Circumstances Like Guilt, Grief, and Shame with Mary-Frances Garber Mary-Frances Garber is a Genetic Counselor who has a private practice where she offers support to patients and families affected by a rare disease diagnosis. We discuss emotional responses to grief, shame and guilt. EPISODE HIGHLIGHTS Where does your career in genetic counseling begin? I was fortunate to get into the program at Sarah Lawrence College, where the field of genetic counseling originated. I wanted to be a medical provider with a focus on helping people understand genetics. I also enjoyed the counseling side and focused my early career in high-risk obstetrics. I opened my personal practice to provide ongoing supportive care to patients, parents and families who are experiencing something related to genetics, during pregnancy, in pediatric settings or as adults.  How do you help a parent who feels an overwhelming guilt after their child is diagnosed? I sit with them, I'm present and I listen. Guilt is self-imposed and it's easy to get stuck in guilt and the early stages of depression after a diagnosis. Sometimes it takes time, but my hope is that someone can eventually see that the guilt they feel isn't necessarily the appropriate emotion. I remind patients to be good to themselves and to journal about why they feel guilt so they can take the feelings from their heart and head, put it on the paper and expel or release it. How is feeling ashamed different from guilt? Parents sometimes feel ashamed as a result of thoughts they've had about their child. We're all human and we have faults. When we're tired or overwhelmed, we have negative thoughts. Feeling ashamed, just like feeling guilty, isn't justified when you're trying to do your best.  What advice can you share for supporting someone who is going through a genetic diagnosis? My patients often don't want to share their news because they don't want to be pitied and they don't want to get questioned, especially when they can't answer a lot of questions themselves. Just be there, listen, reflect on what they say, validate their feelings and try not to bombard them with questions. LINKS & RESOURCES MENTIONED Listening Reflecting Healing listeningreflectinghealing.com Varient App  https://www.varientapp.com/ Once Upon a Gene TV https://www.thedisordercollection.com/ ONCE UPON A GENE - EPISODE 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman https://effieparks.com/podcast/episode-114-noah-siedman National Society of Genetic Counselors nsgc.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

ONCE UPON A GENE - EPISODE 232 Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC Abby Turnwald is a genetic counselor here to talk about genetic testing and the crucial role genetic counselors play in guiding families through the complexity of genetic testing and understanding the results. We'll discuss what parents can expect for their first appointment, the importance of seeking a referral, tips for navigating insurance coverage and the significance of re-analyzing genetic reports.  EPISODE HIGHLIGHTS What is genetic testing and what does the first appointment involve? Genetic counseling appointments are for a specific reason, condition, or symptom and can be with just a genetic counselor or with a genetic counselor and a geneticist, which is a physician. A genetic counselor will gather intake information about your child's medical history, family history and developmental history. They will also discuss genetic testing options and answer any questions you may have. Depending on insurance, sometimes genetic testing will happen at the first appointment, and sometimes it will require prior authorization. A physician may do a physical exam and work closely with the geneticist to determine the best plan for your child.  Why is it important for parents to consider doing genetic testing? There's a lot more to a diagnosis because there's likely a genetic cause. Finding a genetic cause can be helpful in parents not holding onto any guilt they may feel. It can also open you up to a community for specific conditions where other parents are actively advocating for their children. Other genetic conditions may have health conditions parents may not know about, so it's important to know. Genetic testing can tell you the recurrence risk if parents are considering growing their family. Even if we don't find a genetic answer, it rules out a lot of other genetic conditions and that can be helpful for your care team.  Can you talk about the barriers to genetic testing and how to overcome them? The biggest barrier is the wait time to get to genetic testing after you have a referral. It's often about a year, but go ahead and schedule it and look for other places you may be able to go. You can also ask your provider to order genetic testing before you see genetics. If your doctor doesn't think genetic testing is necessary, ask for the referral anyways. Genetic testing should be for anyone who has symptoms that are unexplained. Most insurance covers genetic testing now, but if a claim is denied it can be appealed. There are also more and more labs offering sponsored genetic testing if your child meets certain criteria.  LINKS AND RESOURCES MENTIONED Project Findout https://projectfindout.org/ Probably Genetic https://www.probablygenetic.com/ CTNNB1 Connect & Cure https://curectnnb1.org/ NSGC Find A Counselor Directory https://findageneticcounselor.nsgc.org/ Follow Abby Turnwald on Instagram https://www.instagram.com/pedsgcabby/ 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 081 Rare Disease Adoption with Josh and Monica Poynter Josh and Monica Poynter have a son named Tag with severe Hemophilia Type A, a rare genetic disease which makes him vulnerable to prolonged bleeding. Despite this, these rare parents knew they wanted to grow their family. They were unable to have another biological child and welcomed their adopted son Trey into their family. Trey shares the same genetic disease as Tag. He was abandoned at 2 years old and spent 7 years living in an orphanage in China. Trey is now in his forever home with his forever family and Josh and Monica share their heartwarming family and adoption journey story with us.  EPISODE HIGHLIGHTS What type of Hemophilia do Tag and Trey have and how are they affected by it? They both have Hemophilia Type A and are missing the factor VIII clotting protein. If they're not receiving medication to prevent bleeding, they bleed easily and bleed longer. Without a preventative regiment, bleeding can be life threatening.  What empowered you to adopt another child with the same rare disease? Once Tag started a preventative regiment and wasn't bleeding, it became routine and we became more comfortable. At this point, I think it would be more difficult to have a child without Hemophilia.  What obstacles did you face with adoption? We knew our family wasn't done growing. When we started the adoption process, we found Trey, read his story and saw a video of him trying to walk with an active bleed in his knee. He had the biggest smile on his face and we were all-in. There was a sense of urgency that we had to hurry. Our family was behind us to support us and help us fund raise, watching Tag while we traveled and interviewed.  What would you tell other families considering adoption of a rare disease child? You can give a child with a rare disease a completely different life and a different perspective on how to live their life. It is life changing for the child, but even more so for you as a parent. It's a challenge, it's work, it's stressful-- but it's worth it in the reward of blessings you experience. We started with no knowledge. If it's something you're considering, take the first step in faith. Help is available and you’ll get through it, but you have to take the first step. LINKS & RESOURCES MENTIONED Hand in Hand International Adoptions https://www.hihiadopt.org/ Kentucky Hemophilia Foundation https://www.kyhemo.org/ EPISODE 078 - Media with a Mission with Believe Limited CEO Patrick James Lynch https://effieparks.com/podcast/episode-078-media-with-a-mission-with-believe-limited-ceo-patrick-james-lynch 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/    

Intro music by Scott Holmes

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/

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? Can you tell us about your dad's diagnosis? What does it mean to be a carrier of ALD? A big part of your organization is creating community and having strength in numbers. What are some other goals you have for the organization? What are you most proud of with Remember The Girls? What can people do to help your cause? 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/

Rare Disease Day is on Sunday, February 28th, 2021 and I'd love to know how you're celebrating and what Rare Disease Day means to you. Share a short voicemail message with me here! Ben Munoz is the President and Co-Founder of Ben's Friends. The organization is dedicated to ensuring that patients with rare disease or chronic illness and their caregivers, family and friends have a safe and supportive place to connect with others. They're a network of patient communities for anyone affected by rare disease or chronic illness and they're growing every day. EPISODE HIGHLIGHTS Tell us about yourself and how you became part of the rare disease community.  My journey into the rare disease space was in 2006. At the time, I was a student in business school when I got a pain in the back of my head and rushed to the emergency room. After an emergency surgery, I learned I had a rare type of stroke at 29 years old. It was called an Arteriovenous Malformation (AVM). I was in ICU for a while after surgery and later was dealing with a lot of panic around the condition and navigation information, treatment, risks and the overwhelm of it all. I had resources online through support groups and mailing lists, which is when I learned of the possibility of connecting with others who had my condition, though it was limited. I began thinking of how to create a website where people could connect with others with similar conditions. I started with a Facebook community of others with AVM. With the success and growth of the group, I went on to creating an additional support group for Trigeminal Neuralgia (TN) which was also successful and then Ataxia. I noticed the trend that people were looking for support and that there were very few support opportunities. From that, the non-profit was founded and we have more than 40 communities to date, each focused on one rare disease.  What compelled you to seek out support so quickly? Has there been a ripple effect that's resulted from being a Ben's Friend's contributor? What is your favorite Ben's Friends story? How do people join Ben's Friends and what if their disease isn't listed on your website? LINKS AND RESOURCES MENTIONED Ben's Friends https://www.bensfriends.org/ Make a Donation to Ben’s Friends https://www.bensfriends.org/paypal-donation/ 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/ Leave a voicemail https://effieparks.com/speakpipe

ONCE UPON A GENE - EPISODE 158 Medical Student - Urvi Gupta Joins the Global Genes Rare Compassion Program with Alexions Patient Advocacy Champion Wendy Erler Wendy Erler is passionate about the caregiver and patient voice being at the forefront of her work at Alexion Pharmaceuticals. Urvi Gupta is a second year medical student, working with the rare disease community to shape her professional path forward in the medical field. In this episode, I talk with Wendy Erler and Urvi Gupta about the Global Genes Rare Compassion Program.  EPISODE HIGHLIGHTS Wendy, can you tell us about yourself? I lead the patient advocacy team at Alexion, a pharmaceutical company focused on rare diseases. We work with physicians, patients, families and caregivers and my job is focused on elevating that partnership and bringing the patient and caregiver voice into everything we do.  Urvi, can you share how you became involved with the rare disease community? In a class called Clinical Correlation, we had a patient visit and they mentioned the Global Genes Rare Compassion Program, which matches up medical students with patients who have rare diseases to allow them to learn from each other. I've had three patient partners through that program and it's been amazing and inspiring to network with everyone in the rare disease community.  Urvi, how essential do you think it is to experience a true doctor-patient relationship already? So many patients say their course of treatment varies greatly based on how well their doctor listens to them. I think that's so important when it comes to rare diseases because it's not something you see often and when a patient presents a unique set of symptoms, they can't be brushed off. It's been helpful to experience and come to understand that the patient's perspective is the one that matters and what will help get a diagnosis.  Urvi, in what ways are you interested in raising awareness of the rare disease community? I would advise all medical students interested in rare disease to join the Global Genes Rare Compassion Program. There are a lot of other rare disease organizations always looking for help and there's likely a perspective you can offer.  LINKS & RESOURCES MENTIONED Global Genes Rare Compassion Program https://globalgenes.org/compassion/ Alexion Pharmaceuticals https://alexion.com/ Connor B. Judge Foundation https://www.connorbjudgefoundation.org/ CONNECT WITH WENDY & URVI Wendy Erler https://www.linkedin.com/in/wendyerler/ Urvi Gupta https://www.linkedin.com/in/urvigupta1/ 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 200 Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens Lindsay Stevens is a CTNNB1 mom and a skilled fundraiser who has harnessed her passion and expertise to rally support for CTNNB1 research initiatives. She joins me for a discussion about the art of fundraising and how the smallest efforts can spark profound change. EPISODE HIGHLIGHTS Can you share about yourself and your family? I'm a mom of three children, two typical children and my youngest who was diagnosed with CTNNB1 at about two and a half years old. In my work life, I work for a nonprofit and I'm well-versed in all things fundraising. Why is fundraising crucial for advancing medical research and why is it important for families to get involved? It's up to us as parents to make a grassroots movement and if we're going to approach researchers to find treatments for our kids, they need the financial support to do that. What can parents do to contribute to fundraising goals and maximize contributions? Think about what your skills are and how you can contribute and make a change— writing letters to people you know, advocating, coordinating fundraising events, or something else. Parents need to think about who they know in their personal network where fundraising can come from. If someone is making a gift, it's possible that the company they work for will match the gift. Grandparents want to help and if they're at the age that they need to take disbursements from their IRA's, they can gift it to a nonprofit and avoid tax penalties. Parents can write a letter outlining fundraising goals and make an appeal to people they are sending holiday cards to. Communicate within your network at different milestones throughout the year like at the end of the school year or when the school year resumes, provide updates about your child and ask for a contribution. If someone makes a gift, take the time to write a hand-written thank you note, because acknowledging a gift is just as important as asking for one. LINKS & RESOURCES MENTIONED Dante Labs https://us.dantelabs.com/ Email Lindsay lindsayannstevens@gmail.com CTNNB1 Connect and Cure Podcast https://www.curectnnb1.org/podcast/ 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/ Interested in advertising on Once Upon a Gene? Email advertisi ng@bloodstreammedia.com for more information!

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 185 The Outlet - How Chris Anselmo Used Writing to Connect with Other Rare Disease Families and Come to Terms with His Own Diagnosis of Limb-Girdle Muscular Dystrophy Chris Anselmo is an avid writer and communicator living with Limb-Girdle Muscular Dystrophy, which has undoubtedly contributed to how adaptable, resilient and compassionate he is.  EPISODE HIGHLIGHTS What has your diagnosis journey been like since the onset of symptoms? I have Limb-Girdle Muscular Dystrophy Type 2B and I was diagnosed at 18 years old as a result of a car accident my senior year of high school. I was getting ready to be discharged from the hospital when a doctor said routine blood work revealed my creatine kinase levels were elevated and they thought I may have suffered an internal injury they weren't aware of. With more x-rays, they couldn't find anything internally, but they sent me for further testing. I was eventually diagnosed with Dysferlinopathy, was told I wouldn't have any symptoms and that I would be fine so long as I didn't do anything incredibly strenuous. A few years later, I started developing symptoms and began to think it was the disease I had been diagnosed with years before. I saw a neurologist and received confirmation that the disease was progressing earlier than expected. How did the reality of your diagnosis impact you? I expected the symptoms to come much later in life, not when they did. It was a lot to handle the magnitude of the diagnosis and also the time of life that I was in, in my early twenties, living with college friends. I could imagine my friends advancing in life and their careers, getting married and having kids, buying homes and traveling, and my day-to-day was consumed with abilities I was losing.  I didn't reach out for help and I should have. I didn't handle it well and I wasn't the best version of myself. I was in a dark place and felt frustrated, jealous and stuck.  What helped to change your perspective and help you connect with community? Writing for me is like what exercise is for others. It was the outlet I needed and it had become something that has helped me to process my emotions. Writing became therapy and also helped people close to me to understand what I was going through, more honestly than what I would share in conversation. What I went through was traumatic and difficult and it was important to have an outlet, to understand what was happening in a way that allowed me to take control and share my story. Writing has also helped me to connect with other people who I have things in common with.  LINKS & RESOURCES MENTIONED ONCE UPON A GENE - EPISODE 183 - Wishing Well https://effieparks.com/podcast/episode-183-wishing-well Born a Hero Foundation https://www.bornahero.org/ Rare Disease Fair https://rarediseasefair.com/ The Muscular Dystrophy Association https://www.mda.org/ Rare Disease Dadvocate Blog https://rarediseasedad.com/ Sidewalks and Stairwells https://sidewalksandstairwells.com/ Hello, Adversity https://helloadversity.substack.com/ To the Boy Who Stared at Me After I Fell on My Crutches - The Mighty https://themighty.com/topic/dysferlinopathy/to-the-boy-who-stared-at-me-after-i-fell-on-my-crutches/ 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/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

Intro music by Scott Holmes Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 150 Rare Disease Families Have Plenty of Hope - They Need Help with Drug Development with NF2 Biosolutions Found - Nicole Henwood and Vibe Bio Co-Founder Alok Tayi Alok Tayi is a seasoned scientist and co-founder of Vibe Bio. Alok started Vibe Bio because the biggest obstacle in treating patients with overlooked diseases isn’t finding potential treatments — it’s funding them. Together we speak with Nicole Henwood, a rare mother, physician and president of NF2 Biosolutions, partnering with Vibe Bio to create Merlin Therapeutics, one of the first biotechs leveraging crypto's economic and coordination tools to fund research and drug development. EPISODE HIGHLIGHTS Nicole, can you introduce yourself?  I am a physician and my 11 year-old son AJ was diagnosed with neurofibromatosis type two (NF2) when he was 6 years old. I realized very quickly that what was available for treatment was not what I wanted to be available for my son. I founded a 501c3 charity called NF2 BioSolutions, focused on accelerating gene therapy research for NF2. Alok, can you introduce yourself?  Last year my daughter was born very sick and spent a long time suffering in the hospital. The condition she has is common and the biology behind it is well understood, but there were no therapeutic options available to her. That’s what motivated me to create Vibe Bio, which will give patients more ownership over the drug development process and a community to support them along the way.  Vibe Bio is considered a DAO, what does this mean?  A decentralized autonomous organization (DAO) is a digital collective of individuals focused on a common mission, and the actions of this collective are mediated by voting and governance through a token that we all hold. Vibe Bio is building a community of patients, scientists and partners to help identify and vet potential treatments in the rare disease space. We then actually fund the drug development activities from those programs using cryptocurrency token sales.  Can you tell us about your partnership between NF2 Biosolutions and Vibe Bio?  We’re excited to announce two partnerships with NF2 Biosolutions and Chelsea’s Hope, which are focused on NF2 and Lafora. These patient groups have developed a community of patients, caregivers and scientific leaders in the space. The challenge is that they’re able to show that medicines work in a pre-clinical context, but they lack the capital to get them into a clinical trial. There’s a lot of excitement around the work that we’re doing because we’re hoping to show how the patient and community driven model allows us to advance medicines and unlock the development of candidate treatments. LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ Vibe Bio https://www.vibebio.com/ NF2 Biosolutions https://nf2biosolutions.org/ Merlin Therapeutics https://merlintherapeutics.com Chelsea’s Hope https://chelseashope.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 TV https://www.thedisordercollection.com/

ONCE UPON A GENE - EPISODE 225 The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman Noah Siedman was a big brother to Ben who had Sanfilippo Syndrome, a devastating disease that leads to childhood dementia and premature death. He joins me to talk about his sibling experience and dealing with grief. EPISODE HIGHLIGHTS As a sibling under potential pressure to not be a burden, do you still carry those feelings even after Ben's passing? It's hard as a sibling to see everything your parents are facing that's out of your control. As a sibling, there's a need to be on top of your own care and your own emotions. There were no casual complaints in my family growing up. It was either a disaster or business as usual. Filling in that middle space where you have a bad day and want to talk about it didn't exist. We've had to work on that as a family because that's not how we've functioned.  What coping mechanisms help you to write and talk about your experience? I came to the realization that I was going to be emotionally vulnerable, which is uncomfortable. Knowing I would have to talk about my experience and brother, I had to accept it, put it out front, and get really good at talking about it comfortably. I got more comfortable talking about the progression of my brother's disease and my feelings around him, and I used it as a shield.  What would you say to the young person who is living the same life you were living and what questions should people ask that person? The first thing that I would say, and maybe the best thing to ask that person, is about their roles. When do you feel like a sibling? When do you feel like a caregiver? When do you feel like you're an advocate? When do you feel like you are just you? I got stuck in trying to be a lot of those things at once, where the easiest role to ignore was being just me. But everything you push down morphs into something worse. Frustration turns into resentment, fear turns into trepidation, sadness becomes melancholy.  What are the misconceptions people have about death? The biggest problem with grief is that no amount of experience is applicable. It defies the ability to be prepared for it or to use your past to help you cope. I don't think grief gets easier, I think you get better at it. Those that try to give advice to people that are grieving are hanging on to the idea that that time will heal. It's not that your grief goes away, it's that you get better at it. How has your relationship with your sister changed? Ben's death brought us closer and we do a good job of communicating despite handling things differently. There's no right or wrong way to navigate life with a sibling who has a genetic disorder, so we don't judge each other and we're honest with each other.  As a parent, how do you help siblings to have a better experience? Abandon the idea that you owe siblings normalcy. My parents put a lot of effort into delivering normal childhood experiences. Instead, put that energy into helping your children articulate what they want. More important than chasing normal is helping siblings decide what's important to them and how to pursue it. LINKS & RESOURCES MENTIONED ONCE UPON A GENE - Episode 109 - A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins https://effieparks.com/podcast/episode-109-what-i-know-for-sure 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 142 Half of the Day She's a Diversity Champion, the Other Half a Rare Disease Mom and Caregiver with Yosr Hamza Yosr Hamza is a lawyer, caregiver, and mom and she joins us to talk about what it's like to be a parent to a child with a rare disease in the Middle East, where rare disease isn't as accepted or normalized.  EPISODE HIGHLIGHTS How have you navigated having a child with a rare disease and discovered your powerful voice to embrace your child? For an entire year, I didn't share my secret that my son had a rare disease outside of my family.  I was my own judge and was scared of anyone judging my capability to work and manage everything. I had to embrace it on my own first before I could grow stronger and move past wanting to hide something that makes me who I am. I now see it from the perspective that if someone can't embrace it, that's on them, not me. I wouldn't be able to embrace my own diversity and be my most authentic self without going through what I have with my child and his journey.  What tools and resources helped you to move through the initial emotions after your child was born? One thing I've learned through my journey is to really feel every feeling. I no longer fight back sadness, when I'm down, when I can't do something. It can take a day or two sometimes, but the importance is recognizing when I need to take a break and take time to care for myself. If you're not okay, you can't care for anyone else. I learned that I don't delegate well, but I eventually learned to recognize who was around me, willing to support me and I prepared ideas of things I was able to delegate. It's also been important for me to keep an open mind and not decide in advance what my journey should look like. Being very career oriented, having a plan for myself, it was difficult to realize that I no longer need to win, but I just have to stay in the race.  As a caregiver, what are your goals for yourself and your child? I hope to have a space for caregivers and children like my son in my region. It's unfortunate that there are no resources and we have to fight for everything. There are no nurseries or schools and it creates a need for support. The help and resources are not here and the government isn't investing in it. I'm being vocal about this to hopefully inspire other parents to speak out. I hope by sharing my story, I can connect with someone who can help me make a change and create a voice for caregivers.  LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ Mejo https://www.mymejo.com/ The Caregiver Lawyer on Instagram https://www.instagram.com/thecaregiverlawyer/channel/?hl=en 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 TV https://www.thedisordercollection.com/

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

Intro music by Scott Holmes

Thanatophoric Skeletal Dysplasia with Ashequka Lacey Ashequka Lacey is a fierce mama bear to Jakobi who was born with thanatophoric skeletal dysplasia which results from a mutation in the FGFR3 gene. Thanatophoric dwarfism is a severe skeletal disorder, but Jakobi has as much strength and determination in his little body as his mom.  EPISODE HIGHLIGHTS Tell me about Jakobi. > Jakobi is 18 months old and was born with a rare form of dwarfism called thanatophoric skeletal dysplasia. The gene mutation resulted in short limbs, a small rib cage and small lungs, so he is ventilator dependent. At 20 weeks pregnant, I found out there were abnormalities when I went for a gender scan. Another ultrasound was done to take measurements and although they weren't sure about what type of dwarfism Jakobi had, the doctor let me know that it was lethal and they advised I terminate the pregnancy.  What happened after he was born? Did Jakobi's birth bring a force out in you? What happened when you got to bring Jakobi home? How has Jakobi impacted Ameir's development? How has Jakobi changed you? Can you tell us about your book? What do you want people to know about your family? LINKS AND RESOURCES MENTIONED Jakobi Bays IG https://www.instagram.com/babybays19 Jakobi and Me Book jakobiandmebook.com Jakobi's GoFundMe https://www.gofundme.com/f/jakobis-need Jakobi's Amazon Wishlist https://www.amazon.com/hz/wishlist/ls/A5HHKM6B3E2Z?ref TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Jason Colquitt is the CEO of Across Healthcare and he has 20 years experience in the healthcare technology field where his work has caused a positive disruption within the healthcare industry. He was diagnosed with carnitine palmitoyltransferase type II deficiency (CPT-II), a rare mitochondrial disease. He believes he's been called to use his journey and technical background to help the rare disease community. EPISODE HIGHLIGHTS Can you share your background and a bot about what you do? There's a Walt Whitman quote that talks about a journey and how you never understand that journey until looking backwards and that's what I do a lot-- look back and see how all the paths crossed, what I've been blessed to be able to do and how I can bless others. I've been in healthcare technology for 22 years and have done and seen a lot. Personally, about 18 years ago I realized something wasn't right after several hospitalizations. I had a great primary physician and my diagnostic journey was quick. I was sent to the University of Alabama at Birmingham which has an amazing rare disease group. They did a muscle biopsy and quickly determined that I had a rare mitochondrial disease called CPT-II. This part of my journey gives me the passion for what I do today.  What did you feel seeing another patient with your disease on Diagnosis? I have gone through her same pains, though she had it more severe than I do. Going on a walk and locking up, being crippled and subsequently hospitalized, I could relate on a lot of levels. I had never seen anyone with my disease, so it was interesting and a chance to digest that I do have a rare disease and others do too.  What is Across Healthcare? How does someone sign up for the Matrix? What advancements have you seen in medical technology, data and what can be gathered from digitizing and organizing? What is the cost for a rare disease group to join the platform? Who are your rare disease heroes? LINKS AND RESOURCES MENTIONED The Disorder Channel Website https://www.thedisordercollection.com/ The Disorder Channel Amazon https://www.amazon.com/The-Rare-Outreach-Coalition-Disorder/dp/B088T3PSSH The Disorder Channel Roku https://channelstore.roku.com/details/58305adaac080acdfc952dbeef3c27d8/the-disorder-channel Across Healthcare https://acrosshealthcare.com/ Cystic Fibrosis Foundation https://www.cff.org/ Muscular Dystrophy Association https://www.mda.org/ Diagnosis on Netflix https://www.netflix.com/title/80201543 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 008 Heartism of the Bitterroot My guest today is a pillar in her community, starting an inclusive community center called Heartism Community Center, offering kids of any ability free cooking classes, art classes, yoga classes and more.  Jessica Fitzpatrick is the Founder and Director of Heartism Community Center and Bitterroot Arts for Autism, a Seattle non-profit serving special needs children and families. Her background is Therapeutics in Recreation and Psychology with a Bachelor of Science and a passion for understanding the world in a new way as an autism advocate/activist. Jessica’s daughter, Sequoia, launched Jessica’s journey into the depths of autism and sensory processing.  I'm so grateful to have met Jessica. She is a very special person with a gentle, captivating energy that vibrates warmly around you. She's one of the first autism moms that I've chatted with for the podcast, but it's interesting that these moms have a lot in common. They're calming and soothing to be around and talk to and they inspire me. I feel so lucky to have parents like this on my team. CONNECT WITH JESSICA Heartism Community Center, Bitterroot Arts for Autism Facebook Page Heartism Community Center Address: 1120 Main Street, Corvallis, Montana 59828 Phone: (406) 210-2937 Email: bitterrootartsforautism@gmail.com LINKS AND RESOURCES MENTIONED Jessica Fitzpatrick: Autism and Community Inclusion TED Talk The PLAY Project Autism Intervention Program TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram  

Mariah Gillaspie started the Lightning and Love Foundation for her two daughters, Abby and Emma, who both have the only known mutation of the fact THAP12 gene. EPISODE HIGHLIGHTS Tell us about yourself, your daughters and Lightning and Love. I'm the mom to two ultra rare little girls, 4 year old Emma and 2 year old Emma. They both live with a genetic condition which is technically still un-diagnosed. I launched the Lightning and Love Foundation to further research into the gene and we're finding more and more evidence that the gene is the cause of their disease. They both have daily seizures, don't walk, talk, or have head control and are feeding tube dependent. Why is it important for you to share your story? Before I started the foundation, we were a private family and weren't involved much with social media. I want the world to know my girls for exactly who they are, want to push research and wanted fundraising support which gave me the push. As I started sharing, it opened my eyes to how amazing people are. A rare disease journey can be lonely and isolating, but putting my story out exposed me to a community of support. I want to be that support for others and I want the community to keep coming together to drive research for many other ultra rare diseases.  How have you worked through your grief and how does it still impact you? It's been about coming to terms with what reality looks like, not walking around on eggshells, but knowing that something bad could or will happen. Within our family, we've formed our roles and it's become more routine when things happen and we function better in situations we can't control such as hospital stays. The grief has been hard and has consumed me many times. We have turned to laughter as a coping mechanism, we joke a lot and keep things light. We have an amazing support system between my mom and in-home nursing and other family. I can run away for a mommy day and my husband and I can have date night and maintain our sanity. I accept and live in the know about our unique life and embrace that we have a lot of love in our family.  How do you take care of yourself? I try to take a bath in the evenings with a book and let the sound of the water calm my mind. Taking that time isolated behind a closed door helps me decompress. How do you manage mom life and the foundation? Balancing sometimes becomes the harder part. Jumping into the rare disease community was new and has been a different experience. My background is not in medicine, science, advocacy or fundraising and I'm learning everything from scratch and it's intimidating. It takes a lot of self-discipline and self-talk to feel like I'm able to achieve my goals. CONNECT WITH MARIAH GILLASPIE Lightning And Love on Instagram https://www.instagram.com/lightningandlove/?hl=en Lightning And Love Foundation Website https://www.lightningandlove.org/ Email Mariah mailto:mariah@lightningandlove.org LINKS AND RESOURCES MENTIONED Lightning And Love on Instagram https://www.instagram.com/lightningandlove/?hl=en Lightning And Love Foundation Website https://www.lightningandlove.org/ TESS Research Foundation https://www.tessresearch.org/ EPISODE 057 - SLC13A5 - TESS Research Foundation with Kim Nye https://effieparks.com/podcast/episode-057-slc13a5-tess-research-foundation-kim-nye 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 129 Self Care for Your Healthcare with Ehlers Danlos Patient and Ms. Wheelchair Washington USA - Sarah Tompkins Ms. Wheelchair Washington USA 2022, Sarah Tompkins has Ehlers Danlos Syndrome (EDS), she does extensive rare disease advocacy work, and centers her messaging around her slogan- practice self care for your healthcare.  EPISODE HIGHLIGHTS Tell us about your EDS journey and advocacy work. I'm an Ehlers Danlos Syndrome and chronic pain patient and rare disease, disability rights and invisible disabilities advocate. I've been fortunate to be able to advocate through the Rare Disease Legislative Advocates, Rare Disease Week and Rare Across America programs to grow my patient advocacy and gain confidence, validation and healing from hearing others' experiences. I've learned that being a patient advocate is part of my self care because while I'm advocating for others, I'm also advocating for myself, sharing my story and feeling heard. I encourage everyone to be their own best advocate in any way that's meaningful to them. Was there a time you didn't have the confidence to advocate for yourself? A few days after receiving a genetic diagnosis, I went to a support group and met a friend who taught me how to be my own best advocate and she really lit the torch for me. My friend later passed suddenly and unexpectedly as a result in large part to a lack of awareness and advocacy for EDS. That really lit a fire in me to continue advocating with the passion that was passed down to me. After a doctor disregarded my symptoms and concerns based on my appearance, it made me want to advocate more about EDS. Tell us about Ms. Wheelchair Washington USA. The Ms. Wheelchair Washington USA promotes glamour, self-confidence and community services celebrating accomplishments of women with disabilities. The Dane Foundation organizes the Ms. Wheelchair Washington USA pageant. Their mission is to provide for the unique needs of individuals with physical and developmental disabilities.  How do you pursue advocacy despite what you're going through? A recent surgery resulted in a more difficult and intense recovery than I expected. In needing more care giving than usual and feeling out of control of my own health, I realized the toll it took on my mental health. Through my Ms. Wheelchair Washington USA message of practicing self care for your healthcare, I meant that to mean that as patients we may not realize we can be our own best caregivers and advocates. The same is true for caregivers who give so much of themselves to others and how hard it is to put their own self care first. Self care is important for everyone regardless of health, diagnosis and abilities. Everyone has the power to improve their self care by being their own best care givers and advocates by practicing kindness and compassion we'd offer others in our position, but sometimes struggle to give ourselves. CONNECT WITH SARAH Instagram @sarestthezebra https://www.instagram.com/sarestthezebra/ Email sarah.tompkins@edsnw.com sarah.tompkins@edsnw.com LINKS & RESOURCES MENTIONED 2022 CNP Virtual Family Symposium Registration  https://secured.societyhq.com/bch/2022/  The Dane Foundation http://www.thedanefoundation.org/ Ms. Wheelchair USA https://www.mswheelchairusa.org/ Ms. Wheelchair USA on Instagram https://www.instagram.com/mswheelchairusa/ Sponsor Sarah’s Pageant (Sponsor Your Favorite National Finalist > Sarah Tompkins) http://thedanefoundation.org/eventsprograms/sponsormwusafinalists.html

ONCE UPON A GENE - EPISODE 123 Figuring Out How to Infuse Meaning in the Days After the Loss of a Child and the Daunting Task of What the Hell to do Now with Liz Morris Liz Morris is a guest blogger on the Courageous Parents Network and a fellow Seattle rare mom who lost her son Colson to mitochondrial disease in 2020.  EPISODE HIGHLIGHTS In your most recent blog, you spoke about obligation and purpose. How has your obligation as Colson's mom and as his full time caregiver changed as a mom now who has a lot of time. I loved being Colson's mom and thrived in the intense clarity of knowing how to care for him, keep him safe and advocate for him. I had other things to do, but it was all secondary to caring for Colson. Now that he's gone, I know how intensely and passionately I can focus on things and how meaningful that can be. Now that Colson is gone, my day can be dull and I'm trying to figure out how to direct the same level of energy and purpose into something useful, particularly for parents in the thick of caregiving.  Have you experienced a fundamental transformation as a rare disease mom and then after losing Colson? When Colson was alive, my world expanded and I learned a lot about non-normative ways of living and I learned of others living in those spaces. I've been trying to hold onto that expansive mindset. Grief will either crumble me, or this part of our story can expand my empathy, resilience and relationships.  Do you still want to associate with other rare parents? I want to stay connected to families in the rare disease community. When I spend time with friends with children like Colson, I feel close to him. I enjoy watching the community blossom and grow and seeing the level of support and care people have for each other. We started palliative care when Colson was 7 months old and I like to stay engaged and continue advocating for palliative care because it's a powerful and transformative resource.  What's the difference between your grief when Colson was alive and your grief after he passed? I had a lot of ambiguous grief when Colson was alive. I did a lot of active anticipatory grieving while he was alive, which helped me in the immediate aftermath of his death. I carried the grief I had before his death into the next phase of living without him. Palliative care really helped me through the decisions we made before he died. We feel that in the final moments when we had to make hard decisions, we were able to do so through an act of love, and our grief is mitigated in that we're not agonizing over our decisions.  LINKS & RESOURCES MENTIONED Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K Liz Morris - Courageous Parents Network https://courageousparentsnetwork.org/blog/author/liz-morris 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/

Dana Perella has raised almost $200,000 to help fund research for rare pediatric diseases through Cookies4Cures.  EPISODE HIGHLIGHTS Tell me where you're from and how old you are. I live in Boulder, Colorado and I'm 10 years old.  What is Cookies4Cures and why did you start it? Cookies4Cures is my nonprofit that raises money to fund research in rare pediatric disease. It started with my friend Mila that I met in speech therapy. When I was 7, I found out she was diagnosed with a rare, fatal disease called Batten. I needed to help her, so I started Cookies4Mila to help find a cure for her form of Batten. I sold cookies to raise $1000 in three months, then I went viral and had $56,000 by the end of the year.  Were you already a baker? I first had the idea of having a lemonade stand, but didn't want to be limited to only selling in the summer. I love cookies, everyone loves cookies, you can eat them anytime, but I had never baked anything before. It was a new experience for me and was really fun.  Tell me what the money you've raised so far has done. I've raised over $140,000 for five different rare pediatric diseases. I've raised money for Batten, PANS (pediatric acute-onset neuropsychiatric syndrome), SMA (spinal muscular atrophy), HAE (hereditary angioedema) and MCTO (multicentric carpotarsal osteolysis). What have you learned about yourself that you're proud of? I've discovered I can make a difference. Not only adults can change the world- kids can too.  What's your favorite Cookies4Cures moment? The moment I knew I had funded a treatment for Mila's Batten. That felt amazing because I helped my friend have a longer life.  What's next for you? It's been hard to do cookie pop-ups because of covid, but Sophie's family owns a restaurant and we've been selling cookies from the restaurant. I'm looking forward to dressing up as an elf for the holidays and delivering cookies around Boulder. LINKS AND RESOURCES MENTIONED Global Genes https://globalgenes.org/ Travere https://travere.com/ HAEA https://www.haea.org/ Baking with Dana: Raspberry Thumbprint Cookies https://youtu.be/V_j-iVKiC7c  CONNECT WITH COOKIES4CURES Cookies4Cures https://www.cookies4cures.com/ Email Cookies4Cures  info@cookies4cures.com Cookies4Cures on Facebook https://www.facebook.com/Cookies4Cures Cookies4Cures on Instagram https://www.instagram.com/cookies4cures_kids/ Cookies4Cures on Twitter https://twitter.com/cookies4cures 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/

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 218 James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child James Robinson is a dad and the author of More Than We Expected: Five Years With a Remarkable Child, a deeply moving book and a testament to the strength found in vulnerability, the importance of community and the boundless love that families share in the face of adversity.  EPISODE HIGHLIGHTS Can you tell us about your family and what inspired your book? My wife and I have three sons, one who was a twin born with a congenital heart defect called heterotaxy that died at age 5. My book is a memoir, a story of our years together and why it was such a privilege to be Nadav's father. How did writing your book impact your healing process? When Nadav died, I felt a tug to write about his life. Right after he died, we took a roadtrip across the US, just to feel the relief of the open road. I first wrote an essay about the trip, Road to Recovery, that was published in The New York Times and a lot of people wrote in to talk about how they had gone through similar experiences. I realized that sharing our story was valuable to others. I started writing on topics we had been through to get things out of my brain— faith, anatomy, food, music. Getting things on paper was a relief, but I also wanted to leave things written on paper for his brothers so they knew what we went through and how I dealt with it. In many ways, the story is about how I found the strength to tell his brothers that he died. What is your advice for other parents who are in a position of making tough medical decisions for their children? There's a lot of ambiguity in medicine and that informed much of my decision making because I came to learn to educate myself the best I could, but then ultimately go with my gut.  How did your family's faith influence decisions you made for Nadav? Faith was complicated for us, not that we doubted our faith, but our eyes were opened to what faith really is. There is something about faith that brings people together and I think that's the best aspect of faith— the importance of connection and strength in troubling times when and where you may not expect. After a surgery, we learned Nadav wasn't doing well and that he would either stabilize or deteriorate over night. Despite the news, my wife pointed out that it was up to Nadav and that she could live with whatever he decided because she trusted him. That was a statement of faith more profound than I've ever experienced. It wasn't hope, it was faith, and that was powerful for me and the faith that carried me through a lot of times of uncertainty.  LINKS AND RESOURCES MENTIONED More Than a Memoir Website https://morethanamemoir.com/ More Than We Expected: Five Years With a Remarkable Child https://www.amazon.com/More-Than-We-Expected-Remarkable/dp/1637588224 Road to Recovery https://www.nytimes.com/2017/12/07/travel/road-trip-family-grief.html More Than We Expected: A Conversation with Father and Author James Robinson https://courageousparentsnetwork.org/events/more-than-we-expected-a-conversation-with-father-and-author-james-robinson 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/

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)? What were your symptoms and how quickly were you hospitalized? How did you eventually get a diagnosis? What incentives need to be in place to encourage researchers and doctors to explore drug repurposing? At what moment did you realize you had found a potential solution for you? 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? What can you share with people who are impacted by a rare disease that don't have a lot of patients, money or organization? 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 154 A Groundbreaking Gene Therapy In Record Time to Cure His Son with SPG50 Sets a New Course For Future Rare Disease Treatments with Terry Pirovalakis Terry Pirovolakis is a rare disease crusader and father to Michael, who has SPG50. He made a gene therapy for his son in only 18 months. The work he has done will also transform the way rare diseases are treated. He's hosting free monthly 101, 102 and 103 gene therapy courses to help other families advance their programs. Learn more by visiting Terry's website, cureSPG50.org or by connecting with him on social media. EPISODE HIGHLIGHTS Can you share a little bit about Michael's diagnosis? Michael was born healthy, but wasn't hitting milestones like my other children. We learned through testing that he had a disease called Spastic Paraplegia Type 50 (SPG50). Shortly after the diagnosis, we began researching and reading articles, we flew to meet with experts in gene therapy and signed a contract a month later to start a gene therapy program which kicked off our journey. Is there a point where it's too late for gene therapy? I don't think it's ever too late for gene therapy. My perspective is that if children can get it from 1-6 months old, gene therapy can be a cure. After that, gene therapy becomes less of a cure and more of a treatment. Unfortunately for Michael, gene therapy is a treatment and not a cure, but our goal is to cure kids by getting SPG50 on the newborn screening panel so we can cure kids- not treat them.  What is your advice for other families who are on a journey to fund gene therapy and drug development? Families have to understand that a lot of money has to be raised and they have to be willing to give up a lot to get the money you need. You have to have a solid family and the right team. Get your community involved, get friends and family involved and think outside the box to spread awareness about your disease. I encourage families to take my classes and reach out to me throughout the gene therapy and drug development journey. CONNECT WITH TERRY Website https://www.curespg50.org/ Facebook https://www.facebook.com/CureSPG50 Instagram https://www.instagram.com/cure_spg50/ Twitter https://twitter.com/CureSPG50 Email info@CureSPG50.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 TV https://www.thedisordercollection.com/

ONCE UPON A GENE - EPISODE 183 A Rare Collection - Wishing Well There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Wendy Erler It's my privilege to work in patient advocacy within the rare disease community. The people who have come into my life have impacted me, people have opened their hearts and shared vulnerable moments, fears and wishes. Over the last 20 years, my work has immersed me in rigorous science, clinical research, data and people driven to help patients and find treatments for rare diseases. But it's the families and parents who have fueled me to do more and champion their voices everyday. A wishing well is a term from European folklore, describing wells where spoken wishes are granted. When I asked an 11 year old boy, who lost his ability to walk, what he wished for, he wished to hold a spoon and feed himself so his mom could eat her own dinner. The power of wishing is fundamental in the rare disease community and we can all learn from the families that have boundless optimism and resilience.  Tom D’Amato I work in patient advocacy and I'm a rare dad. The rare journey has been isolating, confusing and has led to some dark days. I found through therapy and working in the rare disease community that you can control your reactions and response in emergency mode. You can control how you care for yourself, your child and your spouse. I wish to never forget to never forget the beauty that comes from this journey. As I stand in front of the wishing well, reflecting on my wish for my family and the rest of the rare disease community, I wish to embrace the strength, wisdom and happiness that comes from this journey.  Sophia Cacciatore I have the best job in the world where I get to meet the most incredible people with the fiercest minds and hearts. I get to build bridges and break down walls to make a little magic. I'm a space-maker. Just like Snow White singing in the wishing well, I will always be an echoing voice for families. I will echo all of your wishes until they roar so loudly that your wishes are answered.  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 119 One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander Kathryn Alexander is the mother of three kids and her rare disease story starts when she gave birth to twins and a newborn screening on her son came back positive for Spinal Muscular Atrophy (SMA). It's one of the five percent of rare diseases that has a treatment and her son is the youngest to receive it.  EPISODE HIGHLIGHTS Can you tell us about your family? I am a mother of three little ones. I have a son named Jack who is 4 years old and twins who were born the first day of the pandemic lockdown in 2020. My twin son, Connor, was diagnosed with SMA Type 1 through newborn screening.  Did anyone educate you on opting into newborn screening? I didn't know that newborn screening existed or that my son was getting screened. No one talked to me about the newborn screening for all these rare diseases or the treatments that exist. Getting the screening is important because if you get a diagnosis and begin treatment right away, your child has the best chance for successful intervention. What do you hope to accomplish through sharing your story? I want Connor's story to help other people to understand the importance of doing newborn screening and seeking urgent treatment. There aren't currently uniform guidelines across the country for newborn screening and I don't understand the ins and outs of why, but I'm figuring out how to use Connor's story to contribute to change. I have strong feelings around sharing my experience and it helps me cope.  How did you process the birth of twins, the pandemic, Connor’s diagnosis and beginning treatment all at once? Losing someone close to me when I was younger helped me through my experience with Connor because I knew how to cope under extreme duress and I knew how to push and keep going. I keep my focus on the positive in situations and don't sweat the small stuff. LINKS & RESOURCES MENTIONED Wild: From Lost to Found on the Pacific Crest Trail by Cheryl Strayed https://www.amazon.com/Wild-Found-Pacific-Crest-Oprahs-ebook/dp/B005IQZB14 Tiny Beautiful Things: Advice on Love and Life from Dear Sugar by Cheryl Strayed https://www.amazon.com/Tiny-Beautiful-Things-Advice-Sugar/dp/0307949338 When Bad Things Happen to Good People by Harold Kushner https://www.amazon.com/When-Things-Happen-Good-People/dp/1400034728 When Things Fall Apart: Heart Advice for Difficult Times by Pema Chodron https://www.amazon.com/When-Things-Fall-Apart-Difficult/dp/1611803438 George Mumford Podcasts  https://georgemumford.com/press/ ONCE UPON A GENE - Episode 101 - Finding Beauty and Connection When Raising a Medically Complex Kiddo with Melanie Dimmitt - Author of Special https://effieparks.com/podcast/episode-101-melanie-dimmitt-m9dga ONCE UPON A GENE - EPISODE 059 - Palliative Care & Courageous Parents Network with Founder Blyth Lord https://effieparks.com/podcast/episode-059-blyth-lord Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K The Disorder Channel https://www.thedisordercollection.com/ EveryLife Foundation https://everylifefoundation.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 087 A Rare Collection - Superheroes This is a new edition to the podcast that is built on the power of storytelling. This extra special first episode of A Rare Collection will be released once a month and will feature three people from the rare disease community sharing a short story. This month's theme is Superheroes. EPISODE HIGHLIGHTS Casey Parks, Father to Ford with CTNNB1 Casey shares a story from when he was little, going to the comic book store with his dad and brother. His favorite comic was Captain America. As he grew, he still loved superheroes and looked forward to introducing his kids to the world of super heroes in the same way his dad did for him. He hoped his son would love Captain America as much as he did. Casey shares about his son Ford, born with a rare genetic condition called CTNNB1, and how the things he remembers from his childhood, the things he wanted to share with Ford, probably won't be a part of their father-son journey the way he imagined. But what it's taught him instead is that Ford is his real life Captain America. Bo Bigelow, The Rare Disease Film Festival, The Disorder Channel Co-Founder, Father to Tess with Hao-Fountain Syndrome Bo tells a story about a boy he met, a 7 year old superhero. He shares about his 11 year old daughter Tess who has Hao-Fountain Syndrome. She doesn't talk, she has autism, seizures and intellectual disability. At a picnic on a hot summer day, Tess was overheating and miserable. The picnic where Bo was hoping to connect with other parents and other children like Tess had left him feeling isolated and disappointed. Departing the picnic gathering, Bo took Tess to the beach to cool off in the water. A 7 year old boy stood by in the water watching Tess. He asked about her. He asked how old she was. He asked why she didn't talk. He was interested and curious about Tess. When Bo told the boy that Tess didn't speak, the boy reacted with a heroic statement. The boy saved the day. He was a superhero. Daniel DeFabio, The Rare Disease Film Festival, The Disorder Channel Co-Founder, Father to Lucas with Menkes Daniel compares the strengths of superheroes and the often opposite comparison of kids with rare disease- that they can do less than others and there's a lot they cannot do. Daniel's son Lucas needed a wheelchair and needed a food tube. Instead of focusing on Lucas' lack in ability to speak, he focused on his expressions, how infectious his grin was and laugh were. People found his gifts remarkable. With all his challenges, he found and exuded joy and inspired others to do the same. Lucas used the superpowers he had to do good and spread good to those around him. What would you do if you had superpowers? 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 241 Chasing Glimmers - What's Glimmering with Katie Lloyd Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We'll share inspiring stories from the community, life lessons we've learned and explore how glimmers light our way forward. Let's chase those glimmers together! EPISODE HIGHLIGHTS Take a break A break is important to transition away from difficult moments and help you to look back to where you were and where you are. A break and stepping away allows you to see all the wonderful things for what they are, but getting away isn't just taking a vacation or going somewhere. Small, frequent breaks can be really helpful too. Consider what's logistically possible and be realistic about how to take a break. Small scale, big impact Take a nap during the day, and if you can't, lay on a yoga mat and just rest. Distract your kids in a way that carves out time to exercise. Take off your shoes and socks and go outside. Get grounded with Mother Earth and be in nature. Using breathing exercises can help to calm your nervous system and allow you a moment to re-group. Tap into the network of those you trust to give you a break from caregiving. The generous rare disease network I became friends with someone in the US and she made a beautiful baby blanket for me. Shipping the blanket was going to be really expensive and my friend didn't know how to get it to me. Another friend of mine happened to be visiting the US and has since brought the blanket back with her to Switzerland for me. I'm so grateful for beautiful people doing wonderful things. For the love of focaccia In the last year, I've been making bread, trying to perfect focaccia. I nailed it the other day and I was so proud of myself. It was the crispiest, fluffiest, most beautiful focaccia I have ever made and I now I want to make it for everyone on my street. LINKS & RESOURCES MENTIONED Learn More and Register for Week in RARE (use code FRIENDOFEFFIE) https://globalgenes.org/week-in-rare/ ONCE UPON A GENE - EPISODE 237 - Join Us for The Global Genes Week In Rare https://effieparks.com/podcast/episode-237-week-in-rare-2024 Look Again: The Power of Noticing What Was Always There https://www.amazon.com/Look-Again-Power-Noticing-Always/dp/1668008203 Tender https://www.amazon.com/Tender/dp/1529331218 Do Walk: Navigate earth, mind and body https://www.amazon.com/Do-Walk-Navigate-earth-body/dp/1907974962 Marco Polo https://www.marcopolo.me/ 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 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? How do we explain to kids what COVID-19 is and why they can't go anywhere? How do we help reduce our kid's stress and anxiety levels? How do we explain the concept of the current situation in a realistic way that doesn't spark more fear? What are some ways to manage tempers escalating? How do we all adapt to the changes in our routines? When kids are bored and not wanting to do social distancing, what can we do? 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? 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? What do you want to leave us with amidst all of the stress going on right now? LINKS AND RESOURCES MENTIONED Mindful Schools Visual Schedule Printables - Google Jackbox TV Netflix Party Ten Percent Happier Meditation TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

ONCE UPON A GENE - EPISODE 216 Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay Matt Hay has a disorder called Neurofibromatosis type 2 (NF2) and how he has more than overcome the challenges that came with it— he has thrived because of it. He is the author of a new book, Soundtrack of Silence: Love, Loss, and a Playlist for Life.  EPISODE HIGHLIGHTS Can you talk about the inspiration for your book? NF2 causes tumors to grow on nerves and I have benign tumors on my hearing nerves. So while my ears work, the nerve that connects my hearing and my brain has been damaged and I'm deaf as a result. I felt a responsibility to put into words what I've been through because I once felt like I didn't have anyone to turn to.  Can you tell us about the soundtrack and collecting the songs on the playlist? When I came face-to-face with losing my hearing, I knew I wanted to hold on to music and the memories associated with specific songs. The soundtrack is a collection of songs associated with my experiences with rare disease. I started listening to songs with intention and considered the songs I wanted stuck in my head for the rest of my life, the ones I wanted to reflect back on in sorrow and joy.  Can you talk about your mindset to thrive? I spent a lot of time when I was younger, pretending my NF2 challenges didn't exist, hiding symptoms from others, putting so much energy into trying to exist as a person in spite of my disease. I realized later that through my challenges, I had learned to be a better listener because of my hearing loss. I became more empathetic because I have experienced in my own life that it doesn't matter how hard you try, some things are out of reach. I wouldn't have developed these skills without having NF2 and I'm proud of how it has shaped me and what I've learned from it.  What is your advice for others who want to tell their story? Having spent a lot of time advocating for myself and others, I notice this belief that someone has to be a polished speaker to tell their story. When it comes to sharing your story about rare disease, the more real and authentic, the more impactful. Your story is absolutely worth telling. And sometimes if you don't feel capable, just existing is enough.  LINKS AND RESOURCES MENTIONED Soundtrack of Silence: Love, Loss, and a Playlist for Life https://bookshop.org/p/books/soundtrack-of-silence-matt-hay/19995432?ean=9781250280220 Soundtrack of Silence on Spotify https://open.spotify.com/playlist/1GCTtdXb5zzJO0OMMZbcfv?si=0a9c377b237d4675 ONCE UPON A GENE - EPISODE 214 - A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari https://effieparks.com/podcast/episode-214-the-power-of-brain-and-tissue-donation-in-rare-disease-research ONCE UPON A GENE - EPISODE 215 - Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford https://effieparks.com/podcast/episode-215-beyond-the-crossroads ONCE UPON A GENE - EPISODE 209 - A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies https://effieparks.com/podcast/episode-209-a-leap-of-faith Matt Hay on Instagram https://www.instagram.com/hearmatthay/ 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 192 From the Rare Disease Bunker to Many More Birthdays - A Tale of a Gene Therapy that Cures her Daughter with AADC Deficiency - The First Spanish Patient - with Carolina Moreno Enjoy this presentation by rare disease mom, Carolina Moreno, which she originally shared at the 2023 International CTNNB1 conference held in Spain. LINKS & RESOURCES MENTIONED Ahora sí, te quiero tal como eres / Now yes, I love you as you were https://neret.cat/producte/ahora-si-te-quiero-tal-como-eres/ Columbus Foundation https://fundacioncolumbus.org/ First patient treated for AADC deficiency with gene therapy by Columbus Foundation https://fundacioncolumbus.org/first-patient-treated-for-aadc-deficiency-with-gene-therapy-by-columbus-foundation/

ONCE UPON A GENE - EPISODE 209 A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies I'm joined by two new, rare moms, Emily and Katie, to discuss the topic of having additional children after you've had a child with a rare disease.  EPISODE HIGHLIGHTS How did your experience with your first born children's genetic conditions shake your hopes and fears about having a second child?  Once you connect with the rare disease world and learn about all of the rare disease possibilities, you know rare isn't so rare. The second pregnancy is different because you're aware of the chance that something can happen more than once and your eyes are open to the potential outcomes. Does having the knowledge the second time take away from the joy? It definitely does. We had genetic testing done on our second child and it was terrifying until we got results. Throughout the entire pregnancy, I didn't feel safe.  Did you wish you had a typical experience and did you feel bad for feeling that way? You expect challenges to happen again, and it's a self-preservation mentality, not wanting to set yourself up to be disappointed. I do feel guilty about wanting a typical parenting experience, but that's what everyone wants. That's not to say that you don't love and appreciate your parenting experience with your child who has disabilities. We don't want to see our children suffer and we don't want to suffer as parents.  What is your best advice for families thinking about having another child? It's important for parents to acknowledge all of their feelings and the complexities of their feelings. It's complicated, so reach out to other people you know who have been through it. Talking to others will help to solidify your decision to continue growing your family, despite how terrifying it might feel.   CONNECT WITH KATIE A Very Rare Adventure https://averyrareadventure.com/ Instagram https://www.instagram.com/averyrareadventure CONNECT WITH EMILY Instagram https://www.instagram.com/emily_amerson_/ LINKS AND RESOURCES MENTIONED ONCE UPON A GENE - EPISODE 151 - Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson https://effieparks.com/podcast/episode-151-rare-friends-forever ONCE UPON A GENE - Episode 125 - A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure Katie Lloyd https://effieparks.com/podcast/episode-125-katie-lloyd ONCE UPON A GENE - EPISODE 205 - Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman https://effieparks.com/podcast/episode-205-mastering-the-art-of-the-supermarket-answer 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 016 The Lucky Few I'm super excited to be talking with a super rad dad, Jordan Steele. He married his high school sweetheart and is the father to five year old twins and an almost one year old son who has down syndrome. He's genuine, fun and a lover of life. Jordan is also an emmy winning meteorologist and host on KING 5 Seattle.   EPISODE HIGHLIGHTS Tell us about your son Kinlin, who has down syndrome.  Kinlin is 11 months. We had a great pregnancy, he was healthy and we didn't do genetic testing since everything was going well. When he was born, everything was still great and it was about 6-8 hours after he was born that the nurses came and checked him for down syndrome. You have all these things playing in your mind, but after processing through, crying, praying, talking to friends and family, we had a aha moment where we realized we had been given a gift. That next morning, we were filled with complete joy, we had friends and family come and they gave us nothing but positive embrace and from there everything was great. You still have the scariness of doctors telling you things, the what-if, thoughts of what could happen. Your mind starts to ramble again and you get caught in a tornado of negative feelings. You have to change your mindset and perspective. Things have really been so great. He's healthy and happy. He had a heart palpitation, so we still have a heart doctor. He was on oxygen for a couple months trying to get his lung strength and his lungs are good now.  Do you think knowing Kinlin's diagnosis would have helped to better prepare? No, if we were to know, I think we would have freaked out more, done more research and it would have taken a lot longer to come to the conclusion of pure joy. I think if we were to know, there would have been a lot of time before he came of stress and worry, which could have affected him. Ultimately, it causes internal conflict that you don't need. For some people it's helpful, but for us I don't know that it would have been.  LINKS AND RESOURCES MENTIONED The Peanut Butter Falcon Northwest Center KING 5 News TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram  

ONCE UPON A GENE - EPISODE 146 When Your Career and Personal Life Collide - VP of Medical and Science Strategy and Head of Syneos Health's Rare Disease Consortium FSHD Rare Dad - Raymond Huml Ray Huml and his wife have two kids with Facioscapulohumeral Muscular Dystrophy (FSHD). He's an author, Vice President of Medical and Scientific Strategy and Head of the Rare Disease Consortium at Syneos Health Clinical Solutions. EPISODE HIGHLIGHTS As a family, how do you navigate metal health? We've decided as a family to take what's not good and make it good. We reach out to the professionals we need to for mental and physical health. My dad used to say we're all composed of body, mind and spirit and they're all interwoven, so you have to address all aspects.  How do you find patients to participate in clinical trials? There has to be a compelling argument for why a person should participate in a clinical trial. I lobby heavily in the FSHD Society to develop ICD-10 codes for Muscular Dystrophy, including FSHD, so patients can be tracked. That provides a digital footprint of identifiable patients with a diagnosis. With HIPPA rules, you can't contact patients directly, but the data can be used to know how many patients there are.  What advice do you have for patient advocacy groups to get ICD-10 codes approved? Be persistent and advocate for each rare disease individually so it's more easily differentiated and tracked. How have things changed for you as a caregiver as your children have grown into adults and gone away to college? We've changed our life in order to support them, traveling often to help how we can, encouraging them and staying connected.  CONNECT WITH RAY Email: raymondhuml@gmail.com or raymond.huml@syneoshealth.com LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ FHSD Society  https://www.fshdsociety.org/ Accelerating Rare Disease Drug Development: Lessons Learned from Muscular Dystrophy Patient Advocacy Groups https://link.springer.com/article/10.1007/s43441-020-00221-4 Parent Project Muscular Dystrophy https://www.parentprojectmd.org/ Accelerating Rare Disease Research by Listening to the Patient Voice https://www.syneoshealth.com/insights-hub/incorporating-the-patient-voice-into-the-rare-disease-drug-development-paradigm Muscular Dystrophy Association https://www.mda.org/ Books by Raymond Huml https://www.amazon.com/s?i=stripbooks&rh=p_27%3ARaymond+A.+Huml&s=relevancerank&text=Raymond+A.+Huml&ref=dp_byline_sr_book_1 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 TV https://www.thedisordercollection.com/

ONCE UPON A GENE - EPISODE 138 When Your Child is Facing the Most Severe Form of Human Epilepsy You Fight Until the Death - Literally - Chelsea's Hope Lafora Children Research Fund with Niki Markou and Jenifer Merriam Jenifer Merriam and Niki Markou are courageous moms, serving on the Board of Directors for Chelsea's Hope Lafora Research Fund. Lafora disease is a severe, progressive, fatal form of epilepsy that manifests in teens. They share what it's like to cope with a child's suffering with a rare disease with no cure. These moms are working together to fund research for medical therapies and were recently awarded a Chan Zuckerberg Initiative Rare As One grant, which will help in their race against time for their children.  EPISODE HIGHLIGHTS Niki, can you introduce yourself? I live in Sydney, Australia and have an 18 year old daughter who has Lafora disease. She was healthy until she was 14, when she fell down and had a seizure.  Jenifer, can you introduce yourself? My daughter was a healthy teen and around age 15, she started experiencing myoclonic jerking in her hands and arms. Eventually she began having frequent seizures, cognitive decline and was diagnosed with Lafora disease. What are your current barriers for gaining access to treatments for Lafora Disease? In the labs, they've found therapies, but we don't have any human clinical trials, which is what we're raising awareness around. With therapies available, we want to get our children to clinical trials to see if the therapies work. We've had planned clinical trials before that haven't successfully happened because there aren't enough Lafora patients for a return on investment.  What are you doing to move forward in finding potential treatments for Lafora? We talk to a lot of organizations for similar diseases, talk to professors and biochemists around the world, meet and brainstorm, seek alternative pathways and drugs that could be used. Every minute we have we are taking this on, trying to find a solution. LINKS & RESOURCES MENTIONED Chelsea's Hope Lafora Children Research Fund https://chelseashope.org/ Lafora Disease Families on Facebook https://www.facebook.com/groups/laforadiseasefamilies/ Chan Zuckerberg Initiative  https://chanzuckerberg.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 TV https://www.thedisordercollection.com/

As a young girl, Madison McLaughlin made her way to LA to pursue acting and she's held roles in Chicago PD, Supernatural and Arrow. But she's also a rare disease super hero and celebrity in our community- the rare disease community. Madison's three younger sisters have been diagnosed with hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL).  EPISODE HIGHLIGHTS Can you share a bit about your sisters? I'm the oldest of four girls. Marissa is 18, Mallory is 16 and Mahrynn is 14. Marissa and Mahrynn have an ultra-rare disease that affects less than 25 people in the world called HBSL. Mallory is also a carrier of this disease. Mallory has never had any symptoms and is typically developing. Marissa and Mahrynn use mobility assistance such as walkers and wheelchairs, but they're not affected cognitively. When considering yourself a caregiver, how does it affect you in realizing that as your role? What have people done for you to make you feel special? When did you start therapy individually and as a family? What boundaries have you set for yourself? Are you a part of groups with siblings like you and is there a common thread among siblings? LINKS AND RESOURCES MENTIONED Once Upon a Gene Channel with The Disorder Channel https://www.thedisordercollection.com/ Once Upon a Gene with The Disorder Channel on YouTube https://www.youtube.com/watch?v=68ZUSyqdeZo&t=4s Nikki McIntosh, Rare Mamas https://raremamas.com/ MacPac Foundation https://www.macpacfoundation.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 139 A Rare Collection - Remember Who You Are There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Madeleine Oudin When her daughter Margo was born, Madeleine couldn't wait to take her on adventures across the world. As Margo's due date approached, Madeleine had already applied for her passport and received it by the time she was only two months old. Her first trip to France was booked when she was three months old. Just two days before the trip, Margo had her first seizures and she was diagnosed with epilepsy. When Margo's genetic testing results were processed, she was diagnosed with two mutations in the SCN8A gene, one of a number of genes that can cause epilepsy. Despite Margo's medical complexities, extra planning and equipment, Madeleine has made her dreams of enjoying the magic of adventures with her family come true.  Alyssa Poskarbiewicz As a new mom to a son, Alyssa embraced her new title of mom. When she became a mom to her daughter, born six weeks early, her experience was much different. At just a couple days old, Alyssa learned that her daughter had multiple medical complexities. She had her first surgery at only five days old and was diagnosed with CHARGE syndrome.  Navigating hospital life, forced to face painful and gut-wrenching moments, motherhood didn't look like Alyssa imagined.The expectation of what motherhood would look like wasn't reflected in being a mom to her daughter-  it was terrifying. Shifting roles from mom to her son and mom to her daughter is complicated, messy, confusing and exhausting, but it's changed Alyssa. Her son made her a mom, but her daughter makes her a better mom.  Kaitlin Walden We're not just rare disease parents. We're still individuals who long for things, who need to feel fulfilled and nurtured. As a parent of a medically complex child, Kaitlin found herself losing touch with who she was, and instead, found herself navigating a world of advocacy and living the life of an active duty military spouse. The journey with rare kids is hard work and nothing detracts from the sacrifices that have to be made, but we're capable of being someone else too. Don't lose sight of your seed in the garden, water it, nurture it, and let it blossom. Erin Monast Early in her rare disease parenting journey, Erin recalls the guilt of doing anything besides parenting. After redefining the meaning of self care, Erin rediscovered the voice inside-  the one saying "I'm still here". Self care is doing anything that makes you feel most like yourself. Erin now puts herself at the top of the list so she can be better at all that she does. Listen to the voice inside and let it guide you back to the truest version of you. 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/

Anna Laurent on Alagille Syndrome and Her Road to Advocacy My guest today has a rare genetic disorder called Alagille Syndrome, which she was diagnosed with at 6 months old with no prognosis. Anna Laurent is a vivacious 20 year old living her best life. She's the Head of Programs & Initiatives at Our Odyssey where she helps to empower young adults impacted by chronic and rare diseases. If you know a young person with a chronic or rare disease, tell them to check out Our Odyssey.  EPISODE HIGHLIGHTS Can you share some of the excitement you've had in your life over the last 6 months? Tell us your story and about the diagnosis you were given as a child. What was it like growing up with a rare disease? What led you to become an advocate and to help other young people? What has been one of your most moving experiences so far? Do you have any advice for parents? LINKS AND RESOURCES MENTIONED Our Odyssey https://ourodyssey.org/ Alagille Syndrome Alliance  https://alagille.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Intro music by Scott Holmes

Connect with Kara, host of The Special Needs Mom Podcast: Instagram: https://www.instagram.com/thespecialneedsmompodcast/ Website: https://www.kararyska.com/ Coaching Opportunities Pathway to Peace {Group Coaching Program}: Schedule a Consult or Contact Me Join The Special Needs Mom Podcast Community FaceBook Group!! Click here to Request to Join

Intro music by Scott Holmes

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? Tell us about your kids coming into the world and becoming a mom. What started you on a mission to get answers about Maxwell's development? What were the results of the genetic test? Calling a scientist in Denmark was the beginning of your crusade. What has happened since then? How much money have you raised so far? What advice do you have for the listeners? 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 201 A Rare Collection - Five Advocacy Aces Share Their Conference Commandments EPISODE HIGHLIGHTS Melissa Hioco, STXBP1 DO: Offer a family hospitality room where parents can see the broadcast and stay involved in the conference. Provide sibling spaces and make them feel special.  Spend the extra money to provide a buffet dinner and a kid's buffet with kid-friendly food. Ask for discounts on everything. Find a local AV company who will work within your budget. Create sponsorship tiers and ask for sponsorship. Provided one-on-one genetic counseling to families at no cost. Provide social opportunities for families to connect with researchers.  Utilize an event center with a hotel for accessibility.  Research if a city or state has incentives available when holding events there. DON’T: Offer childcare because it's a liability. Provide a plated dinner because it's logistically complex. Accept the initial quote you're provided without trying to negotiate costs. Use the hotel's AV company because the cost will be higher. Trish Flanagan, HNRNPH2 DO: Invite not just impacted families to your event, but also the researchers carrying out studies about your rare disease.  Poll your community about event location, dates that work best, and discussion topics.  Provide speakers with plenty of notice when inviting them to a conference.  Make sure your event space adequately supports the patient and families' needs. Be transparent about the cost, inclusions and exclusions of the event.  DON’T: Don't leave the research team to organize and schedule patient assessments without your input.  Don't overlook having an interpreter and special equipment that may be needed. Amy Fenton Parker, BDSRA  DO: If your budget allows, utilize a professional conference planning team. Include a family reunion reception or party so families can reconnect. Schedule separate break-out sessions for moms, dads, siblings, and other caregivers. Use a technology provider who will make suggestions for the best outcomes and to make your conference dynamic. Explore pre-recorded sessions and livestreams. Offer a breakfast buffet so guests start their day off right. Provide trained professionals for childcare and make parents aware of the offering. Take advantage of area professionals who can offer services at the conference. Create a planning committee to brainstorm ideas and help on the day of the event. Utilize your board to assist with speakers Kara Kilroy, JdVS DO: Make space for families to connect and share.  Manage volunteers well, meeting with them in advance to communicate plans and coordination. Spend money on AV to ensure you have the right set-up in-person and also capture recordings and/or livestreams. Sit with families and take everything in, enjoying the moment and appreciating all your hard work.  Have a planning committee. DON’T: Don't expect perfection and be ready to roll with changes and pivot. If you provide childcare, ensure you have options for different age groups and different needs so parents get the most out of their attendance.  Ashley Point, KdVS DO: Recruit volunteers. Find a host family in the local area to accept shipments, recommend local services and companies and connect you with volunteers. Work with an event site company who understands your needs and who can negotiate costs on your behalf.  Fundraise, fundraise, fundraise. Ask, ask, ask. Set a budget early, but stay flexible. Set a rough agenda based on what's important to your community. Be sure to allow for time for families to gather together and add breaks during the event.  LINKS AND RESOURCES MENTIONED STXBP1 HNRNPH2 BDSRA JdVS KdVS ONCE UPON A GENE - EPISODE 200 - Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens

A collection of voicemails from rare disease parents who relate to you situation.

ONCE UPON A GENE - EPISODE 175 Every Patient Matters - Discovering, Developing, and Providing Experimental ASO Treatments to Nano-Rare Patients for Free with n-Lorem Founder and CEO Stan Crooke Stan Crooke is the Founder and CEO of the n-Lorem Foundation. He's also the Founder and former CEO of Ionis Pharmaceuticals, the leader in RNA-targeted therapeutics. Under his leadership at Ionis, he pioneered development of the revolutionary antisense technology platform and created one of the largest, most advanced pipelines in the biotechnology industry. His foundation is now using this technology to discover, develop and provide personalized, experimental antisense oligonucleotide medicines to nano-rare patients for free, for life.  EPISODE HIGHLIGHTS What do you do at n-Lorem? With antisense oligonucleotides (ASOs), we design chemically modified pieces of genetic information and those pieces of genetic information allow us to target a specific RNA, which is the molecule that gets transcribed from your DNA to make the protein that makes cells work. Because we now understand that code very well, and because we have a lot of experience, we can be very rational, efficient and inexpensive compared to traditional drug development. In a nano-rare patient, a patient with a unique mutation in a single gene, we begin with this incredible advantage. We can create a genetic medicine for many of these genes and mutations and do that very rapidly and inexpensively and provide medicines for free to patients. What criteria does a family need to meet to become a n-Lorem candidate? The patient has to have a disease with a mutation that is present in no more than 30 patients in the world. By definition, our patients are truly unique and extremely rare. Patients also have to be genotypically and phenotypically characterized fully. A patient has to have a qualified research physician who can do all the work to understand what's wrong with the patient and then treat the patient with an experimental medicine after we make it.  How are some of your patients doing on the drug created for them?  The first patient that was treated with a personalized ASO that we were involved in was an 18 year old German named Anna who has a rare form of ALS. It manifests itself typically in early teens, and untreated is extremely rapidly fatal. Anna was desperately ill when the ASO treatment was started and we weren't sure if we'd even get the ASO to her before in enough time. She recovered and did remarkably well. She's now walking up multiple flights of stairs on her own with no ventilator. She has a speaking tube so her mom can hear her talk for the first time in almost three years. She's also planning to go to school. Anna even wrote a personal note to me, and for a patient with ALS to have the fine motor coordination to do that is really quite astonishing.  Where do you think we're going be in 5 to 10 years with personalized medicine? We look forward to being able to treat thousands of patients, which means we'll also be learning incredible amounts from each of these patients. We are committed to sharing what we learn and we'll have our first annual meeting of investigators, patients, and parents this year. As we learn more, then I think there will be more interest in this space, and as we create a model of quality, others can follow. I hope that as n-Lorem succeeds, we serve as a model for others to follow, and we drive policy changes that will enable more people, more technologies and more organizations to come to the aid of patients who are unserved. LINKS & RESOURCES MENTIONED https://www.mi-reporter.com/opinion/show-your-stripes-to-honor-rare-disease-day-on-feb-28/ https://www.nlorem.org/ https://www.ionispharma.com/ https://twodisableddudes.com/ https://www.ultragenyx.com/rare-entrepreneur-bootcamp/ https://open.spotify.com/episode/14RO0pNneHdpYxSqEzk1l7

ONCE UPON A GENE - EPISODE 245 Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie Mariah Gillaspie is the mom of Abby and Emma, who both have a genetic condition called THAP12, and they're the only known patients in the world. Mariah is the Founder of Lightning and Love and an active rare disease advocate. Most recently, she's shifted her focus to community and established the Colorado Mama Tribe. EPISODE HIGHLIGHTS Can you tell us about the Colorado Mama Tribe? It's been a passion project for me that came out of necessity. When I was new to raising children with rare disease, I was very alone and lost, desperate to find someone who shared a similar story to me. It started with a small group of moms getting together and we've now grown to 400 members. We have monthly meetups for moms, which serves as a social opportunity, but also an opportunity to share and be supported by a community who gets it. We also have a yearly respite retreat and we put together care packages for moms in the hospital with their kids. We recently started providing free group and individual therapy for moms and we've started a bereavement group. How do you fundraise and support your programming? As we've grown, we've assembled different committees and we have an amazing fundraising committee who is rocking it. As a board, we largely handle fundraising and logistics to keep events mostly free and subsidized to take the burden off moms so they feel supported and taken care of through our offerings. What advice do you have for other parents who want to create something for their own community? It only takes a few people to commit to setting a time and place and showing up. Month after month, more and more people will show up and it can grow naturally. Set up a Facebook group, communicate dates and times and people will come. How has your self-care shifted through your pivot? Self care looks different and there's no time for bubble baths or massages right now. Colorado Mama Tribe has been a huge part of my self-care, forcing me to get out of the house, take time for myself away from my family and meet up with friends. I spend time out and about to reset, commiserate and celebrate. Additionally, it makes me feel better connected to my daughters because I'm allowing myself balance. LINKS & RESOURCES MENTIONED Colorado Mama Tribe on Facebook https://www.facebook.com/groups/coloradomamatribe Lightning and Love https://www.lightningandlove.org/ ONCE UPON A GENE - Episode 074 - Rare Disease Mom Chat with Mariah Gillaspie - Lightning and Love Foundation https://effieparks.com/podcast/episode-074-lightning-and-love-foundation 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 239 Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster Joining me today is my sister, Christy Foster. We're talking about caregiver stress, stress-related pain, how and why it shows up, and how to cope. EPISODE HIGHLIGHTS How does chronic stress affect us physically? The muscle tissue is our body represents our emotional holding and our bone structure represents our thinking mind. Muscle tissue holds us up and helps us move and stay flexible. When there's stress or trauma, pain can happen and without attention, the body will become significant. When we're in pain, it's difficult to care for kids, sleep, and go to work. Things compound and things start spinning, leading to a flight or fight response. It's important to be able to recognize when that pattern shows up and what to do about it before it consumes you, so that you're affected physically less often. What techniques can help with jaw tension and pain? The jaw holds our teeth, moves up and down to chew, and somatically, the joint of the jaw represents flexibility and adaptability. When joints become rigid, there's a pattern of resistance to change and emotional inflexibility. Keeping your mouth shut when you're experiencing strong emotions, like anger, can cause jaw pain because of bearing down and swallowing, creating tension in the muscles and joint over time. Expressing to the degree that you can is healing because the emotion comes up and out.  As a long-term caregiver, how do you build resiliency? Connection will help support your nervous system and will help you to better regulate. It's important to have connection with someone who isn't going to fix you, who will be there when you need to release and vent, that you can talk to about your emotions around grief, rage, sadness or shame, because it takes the edge off and it softens the hit. How do we take notice of our pain and tension and take action? We all have access to nature, whether it's a plant in your home or a backyard area. At least once a day, notice nature— the color, sound, feeling. This helps to get in the visceral sense of feeling versus surviving and being in the mind and thinking. Connect with your people to create a sense of safety and understanding. When our systems feel safe, they can relax. Get rest and, if needed, get the help you need to make time for rest. Any type of meditation or breath work that are mind-body geared are helpful, even if uncomfortable, because feeling the feeling helps to move that energy out of you. Exercise in any way possible to get you into your body, which will help you come out of your mind and the emotional looping that can happen. Self-care is essential, even in little pieces of time. Put your hand on your heart and connect to the feeling of love, compassion and gratitude. Research shows this act of mindfulness and experiencing gratitude helps the body settle into a more regulated state.  LINKS & RESOURCES MENTIONED ONCE UPON A GENE - EPISODE 029 - Put Your Own Oxygen Mask on First https://effieparks.com/podcast/008-tanjs-akayy-jr78y-ja2e8-zanza-njkxy-83esr-z2wkz-kx2a4-3zgjf-9n7e6-f4dl9-34pey-khhl4-plbpy-y5jw6-w4tay-9d7t9-4rf34-3ct68 My Intuitive Body Website https://christyfoster.co/ Christy Foster on Instagram https://www.instagram.com/christy.f13/ Sinéad Quinn https://www.instagram.com/sineadquinnofficial/ Rare Breathing Room https://www.facebook.com/p/Annie-Lambert-True-You-with-Neora-100070644768526/?_rdr 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 205 Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping-Schuetz Lindsey Topping-Schuetz is a parent to seven-year-old Owen, who has cri-du-chat syndrome, also known as 5p-. Lindsey focuses her advocacy work on government policy and she joins me to share her tips and advice if you want to get involved in similar advocacy efforts.  EPISODE HIGHLIGHTS Can you tell us about yourself, your son Owen and where your rare disease journey started? My husband and I have one son, Owen, who just turned seven and he's incredible! Everything about our parenting journey has been a surprise and nothing has gone as planned. Beginning at the 20 week ultrasound, there were red flags. At 27 weeks, my husband and I learned that Owen would be born with two genetic chromosomal abnormalities— cri-du-chat syndrome / 5p- and a micro-duplication on the 17th (q) arm. At the time of his diagnosis, he was only the second person known to have the duplication, so we were thrown into the rare disease world quickly. For the last 13 weeks of my pregnancy, we were given very little information, so we immediately researched how to best care for our child and what resources were available in our community to help him.  What influenced your decision to take on the realm of policy in your advocacy work? I felt like I had to, but I didn't have an interest or a background in it in the beginning and it was intimidating. With a prenatal diagnosis, I spent a lot of time before he was born and during his NICU stay making a roadmap for caring for Owen. A lot of that was learning about and leaning into the resources in our community. I was shocked when we were denied time and time again for resources and support, with no reason at all or a lack of waiver funds. I finally realized how broken the system was after a three year fight to get resources. I couldn't get what I needed for Owen because the laws weren't in place to protect him and I needed to prove that it was wrong, but also that it was against the law and prove why the law needed to be changed.  If parents want to contribute their advocacy into policy, what are your recommendations to get started? If you want to get involved, search for the people in your community who represent you. Most will be willing to meet with you or have a call and that's a good opportunity to plant a seed. Get involved with your local Arc chapter or other rare disease advocacy groups in your area. Take time to learn about people who are being put into a position of power and vote.  LINKS AND RESOURCES MENTIONED NeuroJourney https://neurojourney.courageousparentsnetwork.org/ ONCE UPON A GENE - EPISODE 205 - Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman https://effieparks.com/podcast/episode-205-mastering-the-art-of-the-supermarket-answer ONCE UPON A GENE - EPISODE 059 - Palliative Care & Courageous Parents Network with Founder Blyth Lord https://effieparks.com/podcast/episode-059-blyth-lord ONCE UPON A GENE - Episode 123 - Figuring Out How to Infuse Meaning in the Days After the Loss of a Child https://effieparks.com/podcast/episode-123-liz-morris Courageous Parents Network  https://courageousparentsnetwork.org/ The Arc https://thearc.org/ NW Rare Disease Coalition https://nwrare.org/ Dante Labs https://us.dantelabs.com/ 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 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. What causes the obesity disorder? Is it a genetic mutation? After your son was born, when did you realize something was different? How do you combat human stupidity and general unkindness in looks and comments geared towards you as a parent and also Josh? Does Josh also have an autism diagnosis? What are some of Josh's favorite things? What's Josh's relationship with his brothers like?  What kind of advocate has this made you? What do you want people to do or say when they meet Josh? 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/

ONCE UPON A GENE - EPISODE 242 Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections I've been seeing so many online conversations around friendships lately and we've all experienced a ghost ship of friends or people who disappeared or didn't show up for us as we came into the rare disease world. It's an important topic to touch on since so many of us face these friendship challenges. What do we do about it? EPISODE HIGHLIGHTS Find your people. You don't have to let go of old friendships, but it's important to expand your circle to include people who get what life is like for you and your family. Find Facebook groups, explore blogs, reach out to former OUAG guests, or connect with other parents in the waiting room of the doctors offices. Use the power of the internet and social media to find your people. Remember who you were before rare disease. It is easy to forget who we were before we were a caretaker. Connecting with close friends to do activities you enjoyed before caretaking was at the center of your purpose can help you grow and keep your essence. Be intentional. Think about the friendships you want to cultivate and be very intentional about it. Find the people who get your life and know what it's like, then find the friends you'd connect with if it weren't for rare disease. Be intentional about finding meaningful connections with people you'd be friends with no matter what, even before rare disease. LINKS & RESOURCES MENTIONED Learn More and Register for Week in RARE (use code FRIENDOFEFFIE) https://globalgenes.org/week-in-rare/ 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/

Intro music by Scott Holmes

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 103 How We Can Balance and Understand the Unique Struggles We Face with Caregiver Fatigue, Compassion Fatigue and Decision Fatigue with Counselor Rose Reif Rose Reif is a therapist with over 20 years experience specifically tailored to those with disabilities and caregivers and she's back to share her knowledge about the three types of fatigue we face and how we can find more balance. EPISODE HIGHLIGHTS What can we do as caregivers when the things we're doing for ourselves aren't enough? Ask someone devoted to you and ask what they see you doing that could be delegated to someone else. Usually it's not the things you're doing for yourself that's a problem, but it's the things you're doing to maintain everyone else. While we as humans like routine, we also get bored easily, so consider if the things you're doing for yourself aren't fulfilling or valuable anymore.  How do you handle potentially negative feedback if you get it? I encourage people to think of their lives as a compelling story where they're the hero. If we think of all the heroes we love, the characters have a guide and every hero needs a guide and truths along the way. Remember there's a reason you've gotten to the point you are where you're burned out and tired and acknowledge the greatness of having people in your life who speak honestly and make suggestions.  Can you explain what self care is? It's not the weekend mountain retreat doing yoga. Self care is boring. Self care is sitting down and doing a budget at the beginning of the month so you have accountability, can make wise decisions for yourself and avoid money stress through the month. Self care is brushing your teeth, making yourself doctor's appointments and committing to little acts through the day to care for yourself.  What is compassion fatigue? Compassion fatigue is when you experience a secondary traumatization, spending so much time with people who have gone through traumatic events that a person inherits the trauma experience. Compassion fatigue has physical ramifications in overall health and has a physical drain on the body. Compassion fatigue leads to an experience of trauma responses, dis-associating and going numb, losing the ability to care. Compassion fatigue is being newly studied in parents raising disabled kids. Can you describe Decision Fatigue? It has more to do with the decision maker and their wellbeing than the decision at hand. I encourage people to pre-make decisions and find ways to cut down on how many decisions you have to make in a day, especially where big decisions may be ahead. RESOURCES MENTIONED ONCE UPON A GENE - EPISODE 027 - Therapy Check-in with Rose Reif Taking Care with Rose Reif on The Disorder Channel Reif Counseling Services 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 on Clubhouse

ONCE UPON A GENE - EPISODE 092 Enabling Rare Disease Treatments with Sanath Kumar Ramesh - Founder & CEO of OpenTreatments Sanath Kumar Ramesh’s son is one of only nine kids worldwide with an ultra-rare genetic disease called Sedaghatian Type Spondylometaphyseal Dysplasia (SSMD). He has a podcast called Raising Rare where he and his wife talk about their journey, finding a treatment for their son and they feature stories of others in the rare disease community. Sanath is joining me on this episode to talk about his new software platform called OpenTreatments, a nonprofit organization with a mission to enable treatments for all genetic diseases. EPISODE HIGHLIGHTS Can you tell us about yourself and your family? I have a 2 1/2 year old boy named Raghav who was born with challenges and he continued to miss milestones through his first year of life. On his first birthday, we learned he has an ultra-rare condition caused by a mutation in the gene GPX4. When Raghav was diagnosed with SSMD, we thought he was the only patient, but we've since found 8 other patients worldwide.  Can you tell us about OpenTreatments? My idea is to collaborate the knowledge and experience of biotech companies and academic researchers to help patient foundations build and run their gene therapies. We are starting with a pilot program of four diseases to understand how well the software program is working and identify any challenges the programs are experiencing. Our mission is to enable treatments for all genetic diseases regardless of rarity or geography. How can parents or patient groups work with OpenTreatments? There's a lot of risk in the drug development process and the amount of risk we take on is not like any investment any one of us has ever done in our lives. Even wealthy venture capitalists don't invest in drug developments because there's a high risk of losing money. For parents who have just received a diagnosis, they're struggling to understand what life has in store for them and embarking on drug development isn't well aligned. We focus mainly on patient groups who have a foundation started, have raised money and have a scientific advisory board.  Do you think biotech and pharma companies will eventually take interest in rare disease treatment missions? It's a challenging problem and I think the bottom line is risk. Pharma isn't interested in rare diseases with such a limited number of patients, like my son's disease, because the risk to treat a patient where a potentially adverse reaction can happen is a risky unknown. The decision becomes whether or not the risk is worth the benefit and what the benefit is when treating such a small number of patients. When there is a larger group of patients, there's also a bigger commercial upside and it's likely worth the risk to explore treatments. Several ideas have been proposed for getting ultra-rare diseases an alternate path to drug therapy, including getting more regulatory support or building collective treatment for ultra-rare diseases. Insurance providers could also potentially pay for the research and development of drug therapies because their spend burden is high over the lifetime of a patient. I don't know what the future holds, but I do know that we need more people in drug development so ideas can be tried and tested. RESOURCES MENTIONED Raising Rare Podcast https://www.raisingrare.fm/ OpenTreatments https://www.opentreatments.org/ Cure Raghav https://www.curegpx4.org/ 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 112 Being Mindful of the Sibling Experience with Founder of We Are Brave Together - Jessica Patay Jessica Patay has three kids- one born with prader-willi syndrome. She joins me today to discuss the relationship and complexity of sibling's experiences and how she navigates the extra layer of parenting. She founded a nonprofit called We Are Brave Together, which hosts the Brave Together podcast. We Are Brave Together provides respite, community and mentoring for mothers raising children with disabilities and medical complexities. EPISODE HIGHLIGHTS Can you tell us about yourself and your family? I've been married to my husband Chris for over 24 years and we have three kids. Luke is 21, Kate is 16, and Ryan is 18 and has prader-willi syndrome, a rare genetic disorder.  What was it like having a child with a rare genetic disorder before there was connection through social media? I tried to keep up with email and chat groups, but I got overwhelmed with and would only pop in chats periodically to see what people were posting. I didn't know the beautiful connections I was missing like what you can form today. My husband and I joined prader-willi support groups, found our people very early in the journey, and we were able to create a tribe without the presence of social media.  What were your fears or hopes when having a third child? Ryan was an easy baby and it left us wanting another child. We thought about Luke a lot and wondered if he'd grow up feeling like an only child. We wanted him to have another sibling and we wanted another child ourselves.  Have Luke and Kate had to grow up faster than most kids? They've experienced crisis after crisis. They're amazing human beings who are resilient, wise, patient, loving and compassionate. It's really hard for siblings. We have tried, but there's no way of fully compensating for what they go through. Do you discipline all of your kids equally? Each kid is different, but Kate and Luke have been disciplined differently than Ryan because consequences don't work. I discipline on principle to demonstrate to Luke and Kate that Ryan does still have consequences despite them not changing his behavior. Can you tell us about We Are Brave Together? We are a 501c3 organization I launched in 2017 with the intent to combat the isolation and compassion fatigue that moms of children with disabilities or challenges face. Our focus is moms and we offer support groups, educational workshops, retreats and respite scholarships. We also launched a podcast, Brave Together. LINKS & RESOURCES MENTIONED We Are Brave Together Website https://www.wearebravetogether.com/ Brave Together Podcast https://www.wearebravetogether.com/podcast.html 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/

After losing his child to a rare congenital disease in 2012, Harsha Rajasimha applied his years of post-doctoral genomics data research experience at National Institutes of Health to develop a technology platform to accelerate clinical research. As the Founder and CEO of Jeeva Informatics and Founder and Chairman of the international humanitarian nonprofit Indo-US Organization for Rare Diseases (IndoUSrare), he's on a mission to bring fresh perspectives and innovation to get faster cures by engaging patients and participants in clinical research. EPISODE HIGHLIGHTS How did you become involved in the rare disease community? I was a genomics data scientist, going through my day-to-day life at the National Institute of Health at the Cancer Institute and the Eye Institute. By 2010, I had published over 15 articles and was enjoying my job. In 2012 we had a child born with a rare congenital disease, Edward Syndrome and the baby wasn't viable at birth. That opened my eyes to the other side of the coin. Up to this point, research was all on the data side, but I wasn't as empathetic or aware of what happens to the patients and families going through rare genetic disease experiences. That led me to social entrepreneurship and I decided to apply my years of post-doctoral research experience to accelerating clinical research, faster diagnostics and therapies for rare diseases.  How did you know you wanted to do something more meaningful with your experience? It took several months of grieving, soul searching and going over what went wrong. I did basic research about what happens in the rare disease community in the US and learned about NORD and Global Genes. What struck me was that I couldn't find any policy framework, definition of rare disease or organization to advocate for rare disease in India. It became clear that it was an obvious place to start. In February 2013 I visited the Bangalore India Bio Conference and met a number of key stakeholders there to pull together like-minded individuals and form a non-profit which became the Organization for Rare Diseases India. The diagnosis and treatments of rare diseases were happening in India, but there wasn't an organized or national effort happening.  What is the mission of the Organization for Rare Diseases India and how does it connect with bringing the culture of the rare disease community in India to the US? How is Indo-US Organization for Rare Diseases connected to Jeeva Informatics? What's the patient related role of Jeeva through the clinical trial process? How can parents and small advocacy groups engage with you and connect in some way? LINKS AND RESOURCES MENTIONED ONCE UPON A GENE - EFFISODE 015 - Show Your Stripes https://effieparks.com/podcast/effisode-015-show-your-stripes Indo-US Organization for Rare Diseases https://indousrare.org/ Jeeva Informatics https://jeevatrials.com/ Indo-US Organization Patient Alliance https://indousrare.org/program-info Organization for Rare Diseases India https://ordindia.in/ Find Clinical Trials https://clinicaltrials.gov/ Global Genes https://globalgenes.org/ NORD  https://rarediseases.org/ Once Upon A Gene TV on 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/ Leave a voicemail https://effieparks.com/speakpipe

ONCE UPON A GENE - EPISODE 014 A Fellow CTNNB1 Mama Tara Bryant is a special warrior mom who has a young son with CTNNB1 and she's sharing her heartfelt story with us. I connect with her as a mom, going through the same things with CTNNB1, we're both hair stylists and I love the real stuff she shares- stuff we're all living through and not necessarily talking about all the time. LINKS AND RESOURCES MENTIONED Parent’s Facebook Group  Proloquo2Go TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram

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? Had you been part of an advocacy or support group prior? Can you tell us about the rare diseases you're living with? What affects you the most daily? Tell me about the shift from your biomedical engineer job.  When you started yoga, did you know right away that you wanted to tailor your practice to the rare disease and disability community? What are you most excited about for the future? 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 212 Special pop up episode from our friends Daniel DeFabio and Bo Bigelow from the Disorder Channel - Pain Points https://www.rarediseasefilmfestival.com/ www.thedisordercollection.com https://www.facebook.com/rarediseasefilmfestival https://www.instagram.com/disorderrarediseasefilms/ https://www.linkedin.com/company/disorder-the-rare-disease-film-festival/ DISORDER: The Rare Disease Film Festival

ONCE UPON A GENE - EPISODE 017 The Value of Genetic Counselors Podcasts have played a huge part in finding community and they’ve served as a way of educating myself. I loved Eleanor Griffith's mission in her podcast, Patient Stories. After being a guest on her podcast, I emailed her a few months later and asked for tips to get my own podcast off the ground. She was so gracious with all her shared wisdom. In addition to her podcast, Eleanor is a Genetic Counselor and Founder of Grey Genetics. I've asked her to join me for this episode to discuss and share her expertise on the importance of genetic counseling.    EPISODE HIGHLIGHTS What does a Genetic Counselor do? What a Genetic Counselor does depends on the setting they work in. In terms of a pediatric setting, Genetic Counselors will often work with a Medical Geneticist as part of a team in a hospital. The Genetic Counselor will meet with the family, get information, explain testing options, go over test results. The Medical Geneticist will come in for a portion of that appointment to do a physical exam as well.  For parents that don't yet have a diagnosis for their child, what would you say to those parents who are hesitant in seeking out your services? For everything in life that has an advantage, there's a disadvantage which is true of genetic testing. The potential disadvantages can vary a lot depending on the reason for testing and the specifics of the situation. In a prenatal setting, testing for some people is personality dependent. Some people think the more information, the better, knowledge is power and they can make informed decisions. For others, they don't want the information, it wouldn't change anything and would only stress them out. In pediatrics, there's fewer disadvantages because you already have a child who has special needs or developmental delay and a diagnosis can help with receiving the needed services. People may hesitate to avoid a diagnosis being labeled, but it can help in finding community and can provide medical management direction.  How has your job changed since the boom in genetic testing and it becoming more accessible, more affordable and more talked about? I graduated in 2011, so in that sense I'm a newer Genetic Counselor and some of those changes were happening when I was graduating. I've also jumped around to several settings, and changes affect varying settings differently. Overall, I'm seeing more genetic testing driven by sales and marketing and there's much more direct-to-consumer testing. Tied to that is a lot of people interested in ancestry testing and certain health concerns, which is murky and mostly unreliable. In doctor's offices, sales reps are present to provide genetics education, but from a commercial angle.   What are your thoughts on the bill in front of Congress right now to make a lot of the research you would access in preparation to give a diagnosis, available to the public? CONNECT WITH ELEANOR Grey Genetics About Eleanor Griffith Email: podcast@greygenetics.com LINKS AND RESOURCES MENTIONED Patient Stories Genotypecast New in the Family: Ford and CTNNB1 TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram  

ONCE UPON A GENE - EPISODE 113 A Rare Collection- Lullabies There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. In this episode, grandparents share their lullaby stories. EPISODE HIGHLIGHTS Maria In the classic lullaby, Hush Little Baby, when an item is broken, the mama will make it better. But there are things that a mama (or a grandma) can't fix. Emma was diagnosed at 6 months old and her parents’ and grandparents’ hopes and dreams went dark. The grief was all-consuming. There's no way to fix Emma, but her love is pure and perfect and her smile can light up the darkest night. Emma doesn't need to hush and grandma doesn't need to fix, but just be next to Emma along her journey.  Duane When Emma was born, her grandfather, better known as her grandpopotamus, held her on his shoulder and sang the lullaby, Go to Sleep. Emma loves music and her grandfather brings her joy through singing. He strives to find the joy and light in Emma's world so he can broaden it and ensure she enjoys her life to the fullest.  Mariana When her first child was born, Mariana realized she didn't know any lullabies. After her son had an accident, she learned the words to Hush Little Baby and sang it to comfort him in the hospital. As a grandmother, she continues singing Hush Little Baby to her grandchildren when she tucks them into bed. A lullaby isn't about how pretty your voice is, it's about your heart sharing comfort, care and love to a child that you get back a million times over. Poppy When taking care of his granddaughter Sloan, Poppy sang A Bushel and a Peck as he put her to bed. He sang that song to his own children hundreds of times, but this time was different. Sloan had just been diagnosed with a rare degenerative genetic disorder. The future will bring uncertainty and hardship. As Poppy sang, feelings of panic, worry and hopelessness took over. He loves her so much- a bushel and a peck. Alice Elijah is beating the odds, proving he has a purpose, blessing and encouraging every person he meets. His grandma has a message for him- to never stop singing his song, never stop dancing and never forget how much he is loved. 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 137 Advancing Therapies for Rare Liver Diseases and Alagille Syndrome with FDA Approved LIVMARLI with Chris Peetz - CEO of Mirum Pharmaceuticals Chris Peetz is the CEO of Mirum Pharmaceuticals, a pharmaceutical company focused on rare liver diseases. They work closely with patients and advocacy groups and have genuine connections which reinforces their sense of urgency to create treatments for liver-related diseases and help to make lives better.  EPISODE HIGHLIGHTS How was Mirum founded? Our current programs include two different medicines. LIVMARLI (maralixibat) is for the treatment of cholestatic pruritus in patients with Alagille syndrome (ALGS) and another is currently in development for other liver conditions. These programs were being developed by a larger company who decided not to work further on the program. Our co-founder had a relationship with families involved with the clinical studies of maralixibat and, upon seeing how good the patients were doing, decided to start the company and get the program back on course.  What does LIVMARLI do and what symptoms does it treat for Alagille patients? LIVMARLI is an oral liquid medicine that blocks the absorption of bile acids in the GI tract. In clinical studies, we've seen the itch that patients experience improves.  How do you decide what rare diseases to focus on and what's in the Mirum pipeline? We're currently focused on broadening access to LIVMARLI for ALGS patients and taking what we've learned and applying it to other liver diseases that have similar issues with bile acids.  How can rare disease advocacy groups help to push to get treatments approved? The impact patient groups have in working through the regulatory process is massive. They play a big role in providing a voice and awareness to help educate regulators. Patient groups do a lot to educate regulators, but also researchers so they can better understand the complex aspects of a rare disease. LINKS & RESOURCES MENTIONED Once Upon a Gene TV https://www.thedisordercollection.com/ ONCE UPON A GENE - EPISODE 036 - Anna Laurent on Alagille Syndrome and Her Road to Advocacy https://effieparks.com/podcast/episode-36-anna-laurent-alagille-syndrome Mirum Pharmaceuticals https://mirumpharma.com/ Mirum Access Plus https://www.livmarli.com/ The Alagille Syndrome Alliance https://alagille.org/ ClinicalTrials https://clinicaltrials.gov/ 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 076 AllStripes: Jump Start New Research for Your Rare Disease with Caitlin Nichols Caitlin Nichols is the Scientific Affairs and Research Manager at AllStripes— the first and only research platform dedicated to rare diseases. They make it easy for patients to contribute to new treatment studies from home. They do the work to collect, analyze and de-identify medical records to help power faster and better drug development. They translate medical data into actionable insights to unlock new treatments for rare disease.  LINKS AND RESOURCES MENTIONED Once Upon a Gene TV - YouTube https://www.youtube.com/channel/UCYPzJqCJmStgR32T_5031tQ/featured AllStripes Research https://www.allstripes.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/  

Intro music by Scott Holmes

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 159 Social Security Disability Revealed - Why It's So Hard to Access Benefits and What You Can Do About It with Spencer Bishins Spencer Bishins has a Master's degree in economics and a law degree, but after working for SSA for more than 10 years, he shifted his expertise to demystifying the complicated disability system. His first book, Social Security Disability Revealed: Why It's So Hard to Access Benefits and What You Can Do About It, explores the obstacles disability claimants face as they navigate the benefits system.  EPISODE HIGHLIGHTS Can you tell us about your career and what motivated you to write your book? After law school, I accepted a job with the Social Security Administration. The SSA system sometimes feels like a computer is deciding a person's case. That's partly because the rules can be very strict and partly because they're monitoring how many cases are being paid to over a million people that file for social security disability benefits every year. Feeling like a claimant is a statistic, moving through an in-personal process where their story is lost can be frustrating. The purpose of the book is to help people understand the process better and know how to deal with situations that may arise during the process.  What is the difference between SSI and SSDI? There are two social security disability programs. Social security tax paid through payroll funds the retirement program, but it also funds the SSDI program. SSDI is only for adults, but adults can also apply for the SSI program if they don't qualify for SSDI benefits. SSI payout is a lot lower payout and a lot stricter. Kids can also receive SSI based on the standard of impairment and functioning, as referenced in the ruling SSR 09-2P to SSR 09-8P. If a child has been approved for SSI, as they approach adulthood, you'll be notified that the child will undergo an evaluation to determine if they're able to work and they may lose their benefits. If a parent has worked and earned SSDI benefits, their adult child can file a claim on their parent's earning record through a program called Disabled Adult Child (DAC) claim. The wage-earner has to be deceased, retired or disabled and in some way a social security recipient themselves.  For parents who care for their children full time and can no longer work, how can they benefit from social security disability? If you've worked long enough to earn social security credits, you may have SSDI coverage. Filing a disability claim if you've paid into the system is called an entitlement and you're entitled to receive benefits if you qualify. You can talk to a social security representative if you're considering filing a claim for yourself as a parent. If you're approved for SSDI, you can also get access to Medicare. CONNECT WITH SPENCER Facebook https://www.facebook.com/BishinsPublishing/ Instagram https://www.instagram.com/bishinspublishing/ Twitter https://twitter.com/bishinspub LINKS & RESOURCES MENTIONED Determining Childhood Disability – Documenting a Child's Impairment-Related Limitations https://www.ssa.gov/OP_Home/rulings/ssi/02/SSR2009-02-ssi-02.html Bishins Publishing https://www.bishinspublishing.com/ Social Security Disability Revealed: Why It's So Hard to Access Benefits and What You Can Do About It https://www.amazon.com/Social-Security.../dp/B0B5PQ6ZYD 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/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 125 A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure - Katie Lloyd Katie Lloyd is a mama to Kasper, who has a rare genetic disorder called DeSanto-Shinawi syndrome and she's joining me to talk about postpartum depression and mental health. Be sure to check out her blog, A Very Rare Adventure. EPISODE HIGHLIGHTS Can you tell us about Kasper? Kasper is almost three years old and he has DeSanto-Shinawi syndrome. Kasper is most affected by hypotonia, he's non verbal, he has the dysmorphic facial features that are specific to the disease and developmental delays. Kasper had infantile spasms which aren't common for children with his syndrome, which makes him even more rare. When did Kasper begin experiencing infantile spasms? He was 9 months old when they started and we knew something wasn't right despite our pediatrician suggesting otherwise. We were able to record an episode and we sent it to the pediatrician who referred us to a neurologist. Following an EEG, he started anti-seizure medicine and the spasms went away within days. What has the rare disease journey been like for you so far? In the beginning, I became very exhausted due to a lack of sleep and being home all day with an unhappy baby. It was hard as a mom, not being able to solve the problem and knowing something wasn't right. I started feeling sad and crying all the time. Comparing experiences with my friends, I began wondering what I was doing wrong and thinking I wasn't made to be a mother. I can be gentler and more compassionate looking back now, but at the time it was very hard.  What has helped you have a sense of acceptance? Getting the diagnosis helped because before it, I felt so lost. I was stuck thinking it must be me, I must be doing something wrong or I was to blame, so having answers helped me to rationalize that and free myself from blame.  What is your advice for parents who are feeling the symptoms of anxiety or depression and feel ashamed to speak out? Don't hide it, find a friend or a support group to confide in. Talk to your doctor and seek out services. Just don't suffer in silence. CONNECT WITH KATIE Instagram @averyrareadventure https://www.instagram.com/averyrareadventure/?hl=en LINKS & RESOURCES MENTIONED A Very Rare Adventure Website https://averyrareadventure.com/ Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K ONCE UPON A GENE - Episode 117 - A Rare Collection - New Beginnings https://effieparks.com/podcast/episode-117-new-beginnings 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 151 Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson Adam "Dadvocate" Johnson and Katie Lloyd are on the podcast, joining me for a lighthearted chat about Brené Brown, a research professor who has spent the past two decades studying courage, vulnerability, shame, and empathy.  EPISODE HIGHLIGHTS Adam, what are some of your favorite quotes and why? One that stands out in terms of transitioning into the rare disease space is from Daring Greatly and says, "What we know matters, but who we are matters more." This was impactful to me because when rare disease happened and I was losing my career, transitioning into survival mode, I had to find myself again and remember that who I was mattered more.  Katie, can you share a quote that has impacted you? It's very scary to be vulnerable and it reminds me of the quote, "Tell the story of who you are with your whole heart." Last time I was on the podcast, I shared vulnerable thoughts and feelings and later worried about who would hear them. This quote reminds me that it's important to open up and share and that it helps others feel they're not alone. Brene talks a lot about shame and says, "Shame is the fear of disconnection." When we are vulnerable, especially talking about rare disease, we connect and we feel more open and less ashamed. LINKS & RESOURCES MENTIONED Episode 125 - A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure Katie Lloyd https://effieparks.com/podcast/episode-125-katie-lloyd Episode 052 - Adam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story https://effieparks.com/podcast/episode-052-adam-johnson-mitochondrial-myopathy Brené Brown, TEDxHouston: The power of vulnerability https://www.ted.com/talks/brene_brown_the_power_of_vulnerability Dare to Lead https://brenebrown.com/book/dare-to-lead/ Atlas of the Heart https://brenebrown.com/book/atlas-of-the-heart/ Brené Brown: Atlas Of The Heart on HBO Max https://www.hbomax.com/series/urn:hbo:series:GYivWaAXEZMLDwwEAAACz Daring Greatly: How the Courage to Be Vulnerable Transforms the Way We Live, Love, Parent, and Lead https://www.amazon.com/Daring-Greatly-Courage-Vulnerable-Transforms/dp/1592408419 Parents As Rare Podcast https://rarediseasedad.com/parents-as-rare-my-pod A Very Rare Adventure Blog https://averyrareadventure.com/ The Imaginary Dad Podcast on YouTube https://www.youtube.com/channel/UCxSX6fMdpfcruG_Tt3JJ0TQ/featured 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 TV https://www.thedisordercollection.com/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 180 Patients and Caregivers Being Compensated to Tell Their Stories and Get Connected to Research Opportunities with Rare Patient Voice Founder Wes Michael Wes Michael is the Founder of Rare Patient Voice, which connects families and caregivers of rare and non-rare diseases with opportunities to share their stories and their opinions with companies and researchers by participating in all types of studies— surveys, phone interviews, bulletin boards, focus groups, clinical trials, and more.  EPISODE HIGHLIGHTS Can you tell our friends listening a little about what you do?  I started a company called Rare Patient Voice almost 10 years ago now. What we do is  invite patients and caregivers to take part in studies, phone or Zoom interviews, online surveys, or online focus groups for our clients, who typically are working on behalf of the pharma companies, device companies or academics. They want to know what patients are thinking and patients are compensated for their participation, currently at a rate of $100 / hour. We go out to patient events, walks, conferences and fundraisers and invite them to join. When we get a request that matches their condition or disease  category, we'll send them an email and we serve as the matchmaker.  What inspired you to start Rare Patient Voice?  My background was not in healthcare. I was involved in market research for Wheaties and Cheerios. But then I moved into the healthcare field 30 or so years ago, and I was very excited because companies there were just learning to talk to patients. They started advertising drugs directly to the patients on TV. We were contacted by a company that was in the rare disease space— they worked in hemophilia. They explained there were very few patients, but they were very important to them and they wanted to learn from them through surveys and interviews. We were asked to build a panel, so we went to the National Hemophilia Foundation, had a booth and table, we talked to people and asked if they were interested in sharing their opinions. A couple years later, we were approached by a different company that also worked in hemophilia and they also wanted to access the patient panel. It got me thinking about creating a group of people that could be invited to studies for numerous companies and include different conditions and diseases. Now we represent 750+ diseases.  Do you help guide patients and caregivers from the beginning to help them tell their story?  Our clients are the moderators and they'll prep people and make sure they're comfortable. To prepare for an interview, you just bring your opinions. You don't have to do any special studying or research. The key is to be honest because you don't have to impress anybody. They just want to know the truth.  How can listeners sign up? People can sign up on the website by providing specific information which is kept confidential. They'll get a double opt-in email and it's as simple as that. LINKS & RESOURCES MENTIONED Rare Patient Voice Website https://rarepatientvoice.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/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

ONCE UPON A GENE - EPISODE 136 The Value of Intensive Therapy for Kids with Disabilities with Jessie Cline and Erin Garrison of Climb Intensive Pediatric Therapy Jessie Cline is the Founder of Climb Intensive Pediatric Therapy and Erin Garrison is a Physical Therapist. Sometimes when you need something done (or always in the world of rare disease) you have to do it yourself. Together, Jessie and Erin have joined forces to offer physical therapy and dynamic movement intervention (DMI) services to children to help them reach therapeutic goals quicker than through typical therapeutic interventions. Climb Intensive Pediatric Therapy is the first and only pediatric therapy clinic in Tennessee to offer DMI therapy services. EPISODE HIGHLIGHTS What inspired you to take Crew's early intervention therapy to an intensive level of therapy? The early intervention model is to train, educate and equip parents.Crew was responsive to the therapy he was receiving and needed the intensive therapy to jump start and boost his therapy progress so we could further build on that. What is the science behind intensive therapy? Intensive therapy is two to three hours of therapy everyday, five days a week, for several weeks at a time. When you work through therapy at that intense level, while it's hard, you see more drastic results sooner. The brain is challenged by repetition and stimulated to open up new neuro pathways. What inspired you to open Climb Intensive Pediatric Therapy? When I was with Crew at LEAP Pediatric Physical Therapy, there was a sense of community and it was a safe space to allow kids to interact. When I returned to Tennessee, Erin and I began collaborating on how we could create that same community here with the best experience and care for kids and their parents. What services does Climb Intensive Pediatric Therapy offer? We currently offer DMI therapy services and physical therapy. We're hoping to also add speech therapy, feeding therapy and occupational therapy services soon. CONNECT WITH CLIMB Website https://www.climbintensive.com/ Facebook https://www.facebook.com/Climb-Intensive-Pediatric-Therapy-101004829103700 Instagram https://www.instagram.com/climb_intensive_peds_therapy/ LINKS & RESOURCES MENTIONED Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K LEAP Pediatric Physical Therapy https://www.leappedtherapy.com/ NAPA Center https://napacenter.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 217 Uniting Science and Hope - COMBINEDBrain and its Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell Terry Jo Bichell is a rare mom, neuroscientist and the founder of COMBINEDBrain, a nonprofit organization revolutionizing the approach to clinical treatments for rare genetic neurodevelopmental disorders by pooling efforts, studies and data.  EPISODE HIGHLIGHTS Can you share a little bit about yourself and how you came into the rare disease space? I am a mom of five grown kids and my youngest is 24 years old and has a diagnosis of Angelman syndrome. With that, everything that was interesting to me wasn't interesting anymore and I turned my attention to neurological, genetic and developmental things. I worked as a nurse and midwife before my youngest son was born and I took a particular interest in research. Research felt like it was taking forever and I had the innocent notion that I could push things faster if I only had the right science degree, so I went back to school and got a PhD in molecular neuroscience. What inspired you to form your organization, COMBINEDBrain? While I was working on my PhD, scientists figured out treatments for Angelman syndrome and a way to measure if the compounds were working was needed. I was drafted to work on the Angelman Biomarkers and Outcome Measures Alliance (A-BOM) and learned I could take what  I knew about Angelman and apply it to a lot of other similar disorders. I started COMBINEDBrain to take the lessons from A-BOM and expand it to as many other disorders as possible.  What are COMBINEDBrain's key services and programs? The biorepository has over 900 individuals represented and we collect all samples to be used for biomarker studies for use in stem cells. We have a COMBINEDBrain registry that any disorder member can use for free and transfer data into their own portal. Project FIND-OUT has a goal of facilitating early diagnosis of rare genetic neurodevelopmental disorders in infants based on 7 symptom categories. In the future, we'll also expand this offering to adults.  Can you tell us about the COMBINEDBrain Roadshow? Many of our participating member organizations are having conferences this year across the country. We have asked each organization to open their conference to other member organizations so we can collect COMBINEDBrain member samples at those sites. This allows us to meet local families and opens up an opportunity to stop by the conference and submit their donation. We can also send a mobile phlebotomist to patient homes to collect and submit samples.  LINKS AND RESOURCES MENTIONED COMBINEDBrain https://combinedbrain.org/ Angelman Syndrome Foundation https://www.angelman.org/ The Foundation for Angelman Syndrome Therapeutics https://cureangelman.org/ Simons Searchlight https://www.simonssearchlight.org/ Rare-X https://rare-x.org/ Probably Genetic https://www.probablygenetic.com/ AmbitCare https://ambitcare.com/geneticseizures/ Project FIND-OUT https://projectfindout.org/ 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 095 A Rare Collection- Skin in the Game with Adam Johnson, Nathan Peck and Marni Cartelli There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring three people from the rare disease community, sharing a story with a common theme. Adam Johnson, Nathan Peck and Marni Cartelli share stories of having skin in the game. EPISODE HIGHLIGHTS Adam Johnson, DadVocate Adam made his way through the gates and into his field of dreams- Wrigley Field, home of the Chicago Cubs. He felt at home among forty thousand strangers, all his people coming together in one place, at one time for a common love and in support of a common hope. As the song "Take Me Out to the Ballgame" goes in Wrigleyville, fans root for the Cubs and if they don't win, it's a shame, but through dedication and persistence, Cub fans are still loyal fans through thick and thin. Adam shares that just as the Cubs have had bad days, he's too had bad days since he was diagnosed with a rare disease. Some days it seems he'll never win and some days the wins are among days of painful losses. The Cubs made it to the World Series in 2016 and won their first championship in 108 years. He holds on to hope that he'll step foot back in Wrigley Field with his children one day and that his rare disease will be cured. It's supposed to be hard. If it wasn't, everyone would do it. The hard is what makes it great. In spite of the losses, the victories along the way is what makes the hard great. Nathan Peck, CureVCP Nathan tells a story about being JV basketball in high school, having his front tooth broken off by another player. He was so angry that he threw the broken piece of tooth under the bleachers. But he got back in and finished out practice. Advocacy is about the skin in the game- having dedication, the want and desire to get it done together. Marni Cartelli, CRPS Patient and Advocate Marni credits football with saving her life. Marni was naturally loud as a child and her mom often said if she were the first born, she wouldn't have siblings. Her dad introduced her to football and she loved it. Marni and her husband share their love of football and have gone to an NFL game every year from the year they met until her rare disease symptoms onset. It's been six years since she's been able to carry on that tradition, four years since she tried to kill herself and three and a half years since her husband used her connection to football to help her back from the edge. Marni shares that her disease symptoms started and progressed very quickly. For months, she isolated herself, only seeing her specialists and husband. The disease progressed, leading to deeper depression. Marni's husband pushed to reconnect with her over football and it worked. Sundays eventually became less focused on the losses and treatment costs and all about dropped passes and crazy plays. LINKS AND RESOURCES Cure VCP Disease https://www.curevcp.org/ DadVocate  https://rarediseasedad.com/about Cure Mito Foundation https://www.curemito.org/ Uplifting Athletes https://www.upliftingathletes.org/ 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/

Our Odyssey is an organization that supports young adults living with rare disease and chronic illness. The founder of Our Odyssey, Seth Rotberg, is passionately driven by his mother's battle with a rare genetic disease called Huntington's Disease (HD). At the age of 20, he also tested positive for the disease. He dedicates his life to helping others on their rare disease journey and chronic illness. EPISODE HIGHLIGHTS What is your connection to the rare disease world? My story started at age 15 when my mom was diagnosed with Huntington's Disease (HD), a rare neurological disease that slowly deteriorates a person's physical and cognitive abilities for which there's no cure. I was fortunate to have a good support system at the time, but no one understood what it meant to be a young adult with a family member impacted by a rare disease. I didn't realize initially that I could also be a carrier of the disease and later found out in college that I was at risk. It impacted me mentally wondering if I had it and I finally got tested so I could plan for my future. I went through genetic testing and tested positive for Huntington's Disease which means I'm not technically diagnosed or currently living with the disease, I'm a gene carrier. Knowing what Huntington's Disease did to my mom, I'm preparing for that happening one day. How fast did your mom's disease progress and were you at all involved in her daily care? When you got your test results back that you were in fact a carrier for Huntington's Disease, what were your next steps? Did you feel freedom when you shared your test results with friends and family? How did you arrive to the point of starting Our Odyssey? What's your most profound accomplishment? LINKS AND RESOURCES MENTIONED EPISODE 048 - What is Chronically Surviving with Marcelle Longlade https://effieparks.com/podcast/episode-48-chronically-surviving EPISODE 036 - Anna Laurent on Alagille Syndrome and Her Road to Advocacy https://effieparks.com/podcast/episode-36-anna-laurent-alagille-syndrome Our Odyssey https://ourodyssey.org/ TEDx Navigating Genetic Disease Testing: A Personal Story https://www.ted.com/talks/seth_rotberg_navigating_genetic_disease_testing_a_personal_story 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 124 Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophie's Hope Foundation Founder and Dadvocate Jamas LaFreniere Jamas LaFreniere is the rad dad to Sophie, who has an ultra-rare glycogen storage disease called GSD1B. He’s also the founder of Sophie’s Hope Foundation and CureGSD1b.  EPISODE HIGHLIGHTS Tell us about Sophie's diagnosis and the foundation you started. Sophie just turned 4 years old and was diagnosed with GSD1B just before she turned 2 years old. We started Sophie's Hope Foundation a couple months after diagnosis with the intention of leveraging our network to raise money. CureGSD1b is a patient advocacy organization which was started to bring together doctors, patients, researchers and collaborators.  How do you balance fatherhood, marriage and business?   It's hard and there's no way around that. My wife Margot is an incredible teammate and best advocate for Sophie. Margot takes a lot of pressure off me and I try to do the same for her and the balance works despite it being a strain. What has been a difficult experience on your journey to raise money and awareness for GSD1B? Making the pivot to start CureGSD1b came with a realization that I was responsible for driving a research plan, building a GSD network, collecting data and making impactful decisions. I had to acknowledge my strengths and weaknesses and remind myself that I'm doing my best to make progress.  What is your fundraising strategy? I don't enjoy fundraising, but the reason we're doing it is to cure my daughter and thousands of other kids. We do an annual golf tournament, which stabilizes us financially for the year. Having a lynchpin event is important because people will get burned out if you continually ask for money. The golf tournament will likely always be our flagship event and we can add other fundraising events throughout the year. LINKS & RESOURCES MENTIONED Once Upon a Gene TV https://www.thedisordercollection.com/ Courageous Parents Network https://courageousparentsnetwork.org/ Sophie’s Hope Foundation https://sophieshopefoundation.org/ CureGSD1b https://curegsd1b.org/ Support Margot in the 2022 Boston Marathon https://www.givengain.com/cc/sophieshope2022bostonmarathon/ ONCE UPON A GENE - Episode 094 - The 12 Commandments to guide you when you're starting a rare disease patient advocacy group with Nasha Fitter and Mike Graglia https://effieparks.com/podcast/episode-094-mike-and-nasha 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 235 Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein My guest, Craig Klein, has been living with Neuromyelitis Optics Spectrum Disorder (NMOSD) for 8 years. He shares his challenges, strengths and about his journey of resilience.  EPISODE HIGHLIGHTS What has your diagnostic journey been like? The first few years were difficult. In 2015, I began a transition from working at a gym, running marathons and burning the candle at both ends. I developed sensitivity to food, I was fatigued and had an ongoing migraine. I went to an urgent care facility for what I thought was just a headache, but the doctor took a lot of time trying to uncover details about my health. After a routine exam, he referred me to a specialist, who referred me to a sub-specialist. Testing revealed that I had NMOSD, but despite the diagnosis, I received the good news that I would live a healthy, happy life.  How did you connect with others in the NMOSD community? I was initially connected through a clinical researcher who informed me of an upcoming patient community day. I went to the patient community day and met other patients who really inspired me. I was fortunate to connect with this community such a short time after receiving my diagnosis. Do you have any advice for someone who's newly diagnosed? It takes time to feel like you understand everything and have a handle on it. It's helpful to be involved with advocacy groups as early on as possible to learn. Give yourself the grace and permission to cry, to suck, to experience negative emotions— not because they're bad, but because they're human emotions. It's up to you to choose what you're going to do everyday, to choose what you put out in the universe, how you treat yourself and how you treat others.  LINKS AND RESOURCES MENTIONED Permission to Feel: Unlocking the Power of Emotions to Help Our Kids, Ourselves, and Our Society Thrive https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847 Emotional Agility: Get Unstuck, Embrace Change, and Thrive in Work and Life https://www.amazon.com/Emotional-Agility-Unstuck-Embrace-Change/dp/1592409490/ Rare Connections in NMOSD, Alexion Pharmaceuticals, Inc. https://www.youtube.com/watch?v=cfnE7cxfY3s ONCE UPON A GENE - EPISODE 234 - Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd https://effieparks.com/podcast/episode-234-finding-glimmers-for-a-happier-healthier-life-with-katie-lloyd 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 187 A Rare Collection - Keep Digging There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Angela, Mom to Yiannis with IRF2BPL, a neurodegenerative disorder When Yiannis was born on a Saturday evening in July 2020, we knew immediately that something wasn't right. He was whisked away to the NICU and nobody could tell us what was happening. Yiannis was in the NICU for more than two weeks without answers. After 18 months, a neurologist started to piece the puzzle together. Through whole exome sequencing, we found Yiannis had two ultra rare fatal progressive neurodegenerative disorders, IRF2BPL and LSM1. We started a foundation, Yellow for Yiannis, to be a leading resource forIRF2BPL funding and for the support of other families that are enduring this disease. Katie, Mom to Beau with KIF1A, a neurodegenerative disorder  On December 17th, 2021, just shy of a month after his second birthday, our son was diagnosed with KIF1A, a super rare genetic condition that affects about 400 people in the world. We had a healthy, happy pregnancy leading to a pretty uncomplicated birth. Beau  met all of his milestones and he was a healthy baby. When discrepancies in his communication, social skills, gross motor and fine motor skills developed, Beau was diagnosed with KIF1A through genetic testing. I encourage any parents who don't feel okay with a diagnosis to keep digging and keep pushing for the safety of your child.  Dana, Sister to Jason and Sean with BCAP31  After years of genetic testing, it was revealed that my brothers Jason, age 21, and Sean, age 18, were both missing six pairs of their x chromosome. There's no cure for what my brothers have. They're the oldest documented case and most families I've met since have received a diagnosis for their kids around 3 years old. It was at that age when my mom noticed that Jason wasn't hitting his milestones. Kelly, Mom to Emma with dopamine transporter deficiency syndrome (DTDS) When my daughter was 2 months old, I started noticing she was missing milestones. I sought out a complex care pediatrician who started running tests and lab work. Emma received a cerebral palsy diagnosis, but I couldn't accept this diagnosis and sought out other opinions. After a genetic panel on neurotransmitters a genetic counselor revealed the real diagnosis- dopamine transporter deficiency syndrome. Had we settled for the CP diagnosis, we wouldn't have known that our daughter's life expectancy was only late adolescence or that a gene therapy clinical trial will be available.  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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 161 A Rare Collection - Beep Beep Beep There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Brittany Stineman Emergency vehicles headed towards us and the sound of the vehicles coming to save my child's life played on repeat. The tears were different this time. They were tears of joy, gratitude and hope. Nash was born with an ultra-rare genetic condition called SMARD1. He was 11 months old when he was diagnosed, with a life expectancy of only 13 months and there were no treatments. No option was not an option. We started a non-profit called SmashSMARD and we focused on developing a treatment for SMARD1. We celebrated Nash's third birthday in a major way. The same emergency responders who have saved his life on multiple occasions joined the birthday parade celebrating a milestone we never imagined we'd reach.  Matt Hay In elementary school, the nurse conducted hearing tests in class. Each student took a turn wearing the headphones while the nurse turned several knobs, and each would raise a hand a dozen or so times to acknowledge they heard the beeps. When it was my turn, she only played a few beeps, or so I thought. Later in high school, I applied to the United States Military Academy. During the physical, the doctor played the familiar tones, scribbled some notes in my file and said the Army would be sending me a letter to explain what I needed to know. When the letter arrived, I learned that I failed my physical due to substandard auditory acuity and I wasn't qualified to serve in the Army. A few years into college, I could no longer hear well enough to use the phone. When I saw an audiologist, I was referred to a neurologist and MRI results revealed I had bilateral acoustic neuromas on my hearing nerves. I was diagnosed with Neurofibromatosis type 2 (NF2), a rare neurological disorder.  Erin Reoyo Beep, beep, beep sounds the familiar driver of the garbage truck right outside my son's room. She looks for him in the window, but he's not there to wave and cheer as she picks up the bins. I know how much my son adores the garbage truck driver and it's clear she adores him too. She doesn't know he lives with a rare, catastrophic epilepsy called Dravet Syndrome. I've never shared my son's story with the driver. Perhaps I want to spare her the worry and grief that comes with caring for someone with Dravet Syndrome.  Amanda Griffith Atkins When you were three years old, your backpack was bigger than you as you went up the steep stairs of the big yellow bus, off to your first day at preschool. Your school was equipped to care for kids with disabilities and you were safe with teachers that understood your disability. There was a lot to celebrate, but I lost something that day realizing our safe and quiet days at home were over. I waited eagerly at the end of the school day, listening for the beep-beep of the bus, and I ran out to take you into my arms. Can you believe it was ten years ago when you first stepped onto the bus? A lot has changed since then and you're nearly as tall as me now. Although your disability will never allow you to live on your own, the bus represents freedom and independence, taking you to your own world of friends, teachers and staff who love and celebrate you. 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/