Once Upon A Gene

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 disea...

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, pr...

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...

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 imp...

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 illne...

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...

Music provided by Scott Holmes

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 Mil...

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...

Music provided by Scott Holmes

Sarah Putt is the host of the OT4Lyfe Podcast, where she interviews thought leaders in the occupational therapy community. Sarah is discussing early intervention and answering questions about her profession and how it benefits families like ours. EPISODE HIGHLIGHTS Tell me about why you started your podcast, OT4Lyfe. Occupational therapy is my life and OT is the "why" of life or "lyfe". My show is...

Intro music by Scott Holmes

The Once Upon a Gene Merch Shop is open for pre-orders through December 6th. Check out the new products added to the shop before it’s too late! Based on the Chicken Soup for the Soul books, filled with feel-good stories that lift your spirit, Tyra Skibington and I present this special feature just in time for Thanksgiving-- Turkey Soup for the Soul. Grab the tissues and enjoy these heartwarming, u...

ONCE UPON A GENE - EPISODE 057 SLC13A5 - TESS Research Foundation with Kim Nye Kim Nye is the mother of four children and the President and Co-Founder of the TESS Research Foundation, a nonprofit organization on a mission to find better treatment options and a cure for SLC13A5— a rare disease that affects two of her kids. EPISODE HIGHLIGHTS Tell us about your children with SLC13A5 and about where...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 056 Rare Leader - Patricia Weltin, CEO, Beyond the Diagnosis Patricia Weltin shares her organization, Beyond the Diagnosis, an art exhibit with a focus on portraits of rare disease. Their goal is to put a face to all rare diseases through a traveling exhibit around the globe. EPISODE HIGHLIGHTS Can you tell us about your work and about Beyond the Diagnosis? I started wor...

ONCE UPON A GENE - EPISODE 055 One Woman’s Kindness Sparks a Neighborhood To Do the Same We live in Mercer Island, a beautiful city across the bridge from Seattle. It's safe, quiet and clean and it's only missing an inclusive playground. I don't know many people here. I met a mom through birth to three, two other moms who emailed me after reading about my podcast in the Mercer Island Reporter and...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 054 RARE. — A Brand with a Purpose: Theresa Thomas and Kristine Hoestermann Theresa Thomas and Kristine Hoestermann nurtured their own outlets of blogging and art and found each other online through the power of a hashtag. They fueled the spark of when they met into a glowing fire as they continue to pour their energy into RARE.— a brand with a purpose and also their pod...

ONCE UPON A GENE - EPISODE 053 Living with Chronic Pain - International Pain Foundation President Barby Ingle Barby Ingle is a fierce advocate, the President of the International Pain Foundation, a chronic pain educator and advocate, motivational speaker, Amazon best-selling author and reality tv personality. She's received more than 20 accolades for her work in the chronic pain community. EPISODE...

Music provided by Scott Holmes

ONCE UPON A GENE - EPISODE 052 Adam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story Adam “DadVocate” Johnson is a dad, diagnosed with Mitochondrial Myopathy. He blogs about his rare disease story, grief and experience on his blog, Owning My Story.  EPISODE HIGHLIGHTS How did you come to be a part of the rare disease community? When I was thinking I was a typical, healthy...