Effisode - Unexpected Moments in the Stairwell
Intro music by Scott Holmes

Intro music by Scott Holmes
ONCE UPON A GENE - EPISODE 082 Rare Disease - The Ultimate Special Teams with Uplifting Athletes with Rob Long Rob Long is the Executive Director at Uplifting Athletes and is a rare brain cancer survivor. His passion and drive for Uplifting Athletes makes him an inspirational hero and he fights relentlessly everyday so others don't have to face challenges in isolation. EPISODE HIGHLIGHTS Can you share your story about discovering a rare illness in college? In my senior year at Syracuse Universit...
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 yea...
Intro music by Scott Holmes
ONCE UPON A GENE - EPISODE 080 Rare Disease and Grief - It’s OK That You’re Not OK with Megan Devine Megan Devine is the author of It's OK That You're Not OK, a psychotherapist, a grief advocate and communication expert dedicated to helping people face their toughest experiences. This book, her story and explanation of grief changed everything for me. After this episode, be sure to get a copy of the book for yourself, join her community and check out her new illustrated journal, How to Carry Wha...
David Ross is a patient advocate, passionate about mental health and creating space for males experiencing mental health struggles. His activism began in 2017 when he was diagnosed with a rare disease called Cowden syndrome. He became dedicated to raising awareness and helping to support others impacted by Cowden syndrome. EPISODE HIGHLIGHTS When were you introduced to the rare disease world? I was diagnosed with my rare disease, Cowden syndrome, about three and a half years ago and it's been a ...
Intro music by Scott Holmes
Media with a Mission with Believe Limited CEO Patrick James Lynch Patrick James Lynch has to inject himself with medication every other day because his liver doesn't produce a protein that helps his blood vessels seal when they burst. He and his brother were both born with hemophilia and he's since lost his brother to the disorder. After his loss, he felt compelled to reach others to provide support and awareness about the importance of life-sustaining medicine. Patrick is the founder and CEO of...
Kara Karlson is a fellow rare disease mama and attorney who is advocating hard in the policy world. She's currently serving on the Governor's Developmental Disability Advisory Council ("DDAC") where she helps set policy and develop programs for the developmentally disabled in Arizona. She is sharing her top tips for becoming your best advocate. EPISODE HIGHLIGHTS Tell me about your daughter and how you are part of the rare disease community. I got involved with rare disease through my daughter. ...
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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 ins...
Fellow rare mom and podcast host, Madeline Cheney, is joining me for a chat today. Be sure to check out her podcast, The Rare Life Podcast. And don't forget to subscribe! EPISODE HIGHLIGHTS Tell me about yourself and your family. I am a stay at home mom to four-year-old Wendy, who is medically typical. Two year old Kimball has a very rare disorder. My husband and I live in Utah. When I'm not caring for my children, I devote my time to my podcast. Tell me about Kimball's diagnosis. Kimball has a ...
Intro music by Scott Holmes
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...
Dr. David Solomon is the CEO of Pharnext, an advanced clinical-stage biopharmaceutical company using artificial intelligence to create therapies for rare and orphan diseases. Their first drug for Charcot-Marie-Tooth Disease (CMT1A) is in it's second pivotal Phase 3 trial. CMT1A is a rare genetic disorder of the nervous system with no current satisfactory treatment available. Dr. Solomon is committed to moving Pharnext's work on the CMT1A drug forward to bring solutions to the patients and famili...
Intro music by Scott Holmes
ONCE UPON A GENE - EPISODE 072 The Importance of Early Intervention with Kindering CEO Lisa Greenwald Early intervention or birth to three are the vital services kids can receive in the beginning of their diagnosis journey. Dr. Lisa Greenwald is the CEO of Kindering, a licensed language and speech pathologist, holds a PHD in communication science and disorders and an executive certificate in non-profit leadership. She's answering all the questions you may have about early intervention and how to...
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 enga...
Intro by Scott Holmes
Nathan Peck is a dadvocate living with an adult onset disease. He's also the Founder and CEO of Cure VCP Disease. Through Cure VCP Disease, Nathan and his wife Allison are committed to bringing together patients, caregivers, researchers, pharmaceutical companies and other non-profits to identify treatments and find a cure for Valosin-Containing Protein (VCP) Disease. EPISODE HIGHLIGHTS Tell us about your family and the rare disease that impacts you. I'm a father of three boys and I'm married to ...
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...
Intro music by Scott Holmes
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 ...
I have asked Ford's therapists, Kelsie McGladrey and Christina Reyer to join me to discuss what therapies we should be doing with our kids and to talk in depth about hippotherapy- physical, occupational and speech therapy that utilizes the natural gait and movement of a horse to provide motor and sensory input. The benefits of hippotherapy include the physical benefits of strengthening muscles, preventing bone weakness and joint dislocation, improving balance and enhancing hand-eye coordination....
Intro music by Scott Holmes
Nikki McIntosh has been featured on The Disorder Channel in Life & Atrophy, a film about the day-to-day of raising a child with Spinal Muscular Atrophy and as a guest of Once Upon a Gene TV. She hosts a community called Rare Mamas where she shares tips, tools and inspiration for moms raising a child with a rare disease. EPISODE HIGHLIGHTS How did you enter the world of rare? My husband and I have two sons, Mason and Miles. Miles has a rare degenerative neuromuscular disease called Spinal Mus...
Daniel DeFabio and I are having a parent-to-parent discussion and bringing you guidance if you are a newly diagnosed family. We'll give you insight into our journeys, things that helped us along the way and ways we learned to cope and find hope. If you're a beginner and new in the club no one wants to be in, start here- this episode is for you. EPISODE HIGHLIGHTS On diagnosis day, what are the important things to notice and what life lines should be sought out right away? Realize that no matter ...
Intro music by Scott Holmes
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...
Cheryl-Lynn Townsin is the mom to Lexi and Felix and the Director of the film, Me, My Sister and Blau. I fell in love with this family when I saw their film and their story has really stuck with me. Cheryl is joining me to share memories of Lexi and the grief that remains from their loss. Lexi's older brother Felix is changing the world and he's incredible. This family fights every day to continue Lexi's legacy of love and they're determined to find a cure for those affected by Blau Syndrome. EP...