Once Upon A Gene
317 episodes - English - Latest episode: about 1 month ago - ★★★★★ - 258 ratingsAs a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.
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Episodes
A Rare Collection - Superheroes
June 17, 2021 11:00 - 18 minutesONCE 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 da...
Why a Diagnosis Matters with HNRNPH2 Rare Mom Angela Lindig
June 10, 2021 11:00 - 36 minutesONCE UPON A GENE - EPISODE 086 Why a Diagnosis Matters with HNRNPH2 Rare Mom Angela Lindig Angela Lindig's daughter had a diagnosis of Atypical Rett for years, but was recently diagnosed with HNRNPH2. Angela runs Idaho Parents Unlimited, which supports, empowers, educates and advocates to enhance the quality of life for Idahoans with disabilities and their families. Amber is also working on a campaign about why diagnosis matters and is working to help families access whole exome sequencing (...
Helping to Further the Patient Impact of Genomics with DadVocate and Genome Scientist at Congenica - Charles Steward
June 03, 2021 11:00 - 30 minutesONCE UPON A GENE - EPISODE 085 Helping to Further the Patient Impact of Genomics with DadVocate and Genome Scientist at Congenica - Charles Steward Charles Steward was one of the first scientists to work on the human genome project, led the original research analysis for human chromosome 10 and has established international collaborations on various projects. He's currently the Patient Advocacy and Engagement Lead for Congenica. He's a brilliant scientist and a super DadVocate to two childre...
Effisode - Putting the Play in Playground with DadVocate - Casey Parks
June 01, 2021 11:00 - 7 minutesIntro Music by Scott Holmes
Relief and Inspiration for Mothers of Children with Rare Diseases with Angel Aid Cares Founder - Cristol O'Loughlin
May 27, 2021 11:00 - 57 minutesONCE UPON A GENE - EPISODE 084 Relief and Inspiration for Mothers of Children with Rare Diseases with Angel Aid Cares Founder - Cristol O’Loughlin Angel Aid Cares works to provide connection, relief and support to caregivers. The founder, Cristol O'Loughlin is sharing her story that begins with her role as a rare sibling and unfolds with heartbreak, passion, grit and grace. EPISODE HIGHLIGHTS Tell me about your childhood and how you're connected with rare disease. I am the youngest of fiv...
Advocates Come in Small Packages - My Life with Blau Syndrome with Keira Howell
May 20, 2021 11:00 - 20 minutesONCE UPON A GENE - EPISODE 083 Advocates Come in Small Packages - My Life With Blau Syndrome With Keira Howell Keira Howell is a twelve year old living with Blau Syndrome joining me to share her story of living with a chronic disease. EPISODE HIGHLIGHTS Tell me about yourself. I'm twelve years old and I have Blau Syndrome. I love to act, sing and do anything related to musical theater. Why would you like to tell your story? I've done presentations at school, but want to expand the peopl...
Effisode - Unexpected Moments in the Stairwell
May 18, 2021 11:00 - 5 minutesIntro music by Scott Holmes
Rare Disease - The Ultimate Special Teams with Uplifting Athletes with Rob Long
May 13, 2021 11:00 - 40 minutesONCE 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 U...
Rare Disease Adoption with Josh and Monica Poynter
May 06, 2021 11:00 - 27 minutesONCE 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 ...
Effisode - Empathy Puts Some Pep in Your Step
May 04, 2021 11:00 - 7 minutesIntro music by Scott Holmes
Rare Disease and Grief - Its Ok That You're Not Ok with Megan Devine
April 29, 2021 11:00 - 1 hourONCE 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 ...
Creating Space for Mental Health for Men Living with Rare Diseases with David Ross
April 22, 2021 11:00 - 27 minutesDavid 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...
Effisode - Adventures in the Grocery Store
April 20, 2021 11:00 - 10 minutesIntro music by Scott Holmes
Media with a Mission with Believe Limited CEO Patrick James Lynch
April 15, 2021 11:00 - 40 minutesMedia 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...
Top Tips on Advocating For Your Child with Momvocate Kara Karlson
April 08, 2021 10:00 - 23 minutesKara 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 daugh...
Effisode 018 - Nacho, Nacho Man
April 06, 2021 10:00 - 6 minutesTUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram Built Ford Tough Facebook Group
Effisode - Nacho, Nacho Man
April 06, 2021 10:00 - 6 minutesTUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram Built Ford Tough Facebook Group
AllStripes - Jump Start New Research for Your Rare Disease with Caitlin Nichols
April 01, 2021 11:00 - 26 minutesONCE 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 ...
Rare Mom Madeline Cheney - The Rare Life Podcast
March 25, 2021 11:00 - 32 minutesFellow 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 ha...
Effisode - An Advocate's Elevator Pitch
March 23, 2021 11:00 - 5 minutesIntro music by Scott Holmes
Rare Disease Mom Chat with Mariah Gillaspie - Lightning and Love Foundation
March 18, 2021 11:00 - 29 minutesMariah 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 find...
David Solomon - CEO of Pharnext - A Biopharmaceutical Company
March 11, 2021 12:00 - 20 minutesDr. 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 fam...
Effisode - The Friendship Circle - Lilly and Ford
March 09, 2021 12:00 - 5 minutesIntro music by Scott Holmes
The Importance of Early Intervention with Kindering CEO Lisa Greenwald
March 04, 2021 12:00 - 27 minutesONCE 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 h...
Accelerating Clinical Research - Harsha Rajasimha, Founder and CEO of Jeeva Informatics
February 25, 2021 21:13 - 28 minutesAfter 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 e...
Effisode - Show Your Stripes With Us This Rare Disease Day
February 23, 2021 12:00 - 5 minutesIntro by Scott Holmes
Cure VCP With Rare Disease Trailblazer - Nathan Peck
February 18, 2021 12:00 - 28 minutesNathan 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 marrie...
Ben's Friends A Rare Disease Social and Support Platform with Ben Munoz
February 11, 2021 12:00 - 21 minutesRare 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 r...
Connecting the Dots From Patients to Researchers with Jason Colquitt - CEO of Across Healthcare
February 04, 2021 12:00 - 25 minutesJason 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? Ther...
Hippotherapy and Adaptive Riding with Little Bit Therapeutic Riding Center
January 28, 2021 12:00 - 26 minutesI 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 coordinati...
Rare Mama - Nikki McIntosh - Navigating Life with Rare
January 21, 2021 12:00 - 25 minutesNikki 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 Mu...
Beginners Guide to Rare Disease - Anecdotes For Those Early Days of Diagnosis with Daniel DeFabio
January 14, 2021 12:00 - 45 minutesDaniel 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 mat...
Beginners Guide to Rare Disease - Anecdotes For Those Early Days of Diagnosis with Daniel DeFabio
January 14, 2021 12:00ONCE UPON A GENE - EPISODE 065 Beginner’s Guide to Rare Disease- Anecdotes for Those Early Days of Diagnosis - Daniel DeFabio 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 HIGHLIGHT...
Effisode - Never Underestimate the Determination of Your Child
January 12, 2021 12:00 - 10 minutesIntro music by Scott Holmes
Seth Rotberg Founder of Our Odyssey and His Mental Health Surrounding a Huntington’s Disease Diagnosis
January 07, 2021 12:00 - 37 minutesOur 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...
The Life of an Angel Diagnosed with Blau Syndrome with Cheryl-Lynn Townsin
December 31, 2020 12:00 - 52 minutesCheryl-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....
Effisode - The Magic of Christmas
December 29, 2020 12:00 - 7 minutesMusic provided by Scott Holmes
Cookies4Cures with Dana Perella
December 24, 2020 12:00 - 19 minutesDana 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 d...
The Glass Child - Being a Sibling to My Rare Disease Sisters with Madison McLaughlin
December 17, 2020 12:00 - 53 minutesAs 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 a...
Pediatric Occupational Therapy with OT4Lyfe - Sarah Putt
December 10, 2020 12:00 - 51 minutesSarah 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 all about occupational therapy and I bring on occupational therapy practitioners, students and ...
Effisode - Caregiver Personal Trainer Wanted
December 01, 2020 12:00 - 7 minutesIntro music by Scott Holmes
SLC13A5 - TESS Research Foundation with Kim Nye
November 19, 2020 12:00 - 47 minutes - 65.2 MBONCE 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 your journey began. We were living in England, in graduate school and we were having a...
Rare Leader - Patricia Weltin, CEO, Beyond the Diagnosis
November 12, 2020 12:00 - 31 minutes - 43.1 MBONCE 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 working with the Rhode Island Rare Disease Foundation and we had a rare disease day event...
One Woman’s Kindness Sparks a Neighborhood To Do the Same
November 05, 2020 12:00 - 20 minutes - 28.2 MBONCE 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 my two neighbors. Casey, the kids and I recently went out on a family walk before the Sea...
Effisode - Friendship, Inclusion, and Tough Conversations
November 03, 2020 12:00 - 8 minutesIntro music by Scott Holmes