The Galactosemia Podcast

• Gene Therapy for Galactosemia: Feat. Mandy and Clayton from BridgeBio

  In this episode of The Galactosemia Podcast, Ryan sits down with Clayton Beard and Mandy Rohrig from BridgeBio to explore the promise and challenges of gene therapy for galactosemia. They break down how gene replacement works, why viruses are used as delivery systems, and what families should know about the current state of research.To get in touch with Mandy - [email protected]

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• Maureen Bell's Story of Living with Galactosemia

  In this episode of The Galactosemia Podcast, I sit down with Maureen Bell, who was diagnosed with classic galactosemia just seven days after her birth in 1972—long before the condition was part of newborn screening. Maureen shares what it was like growing up in the seventies, eighties, and nineties with galactosemia, from childhood struggles and dietary restrictions to the emotional challenges of premature ovarian insufficiency.Now 53, Maureen reflects on how the galactosemia diet has evolved over the decades, what it meant to be part of the very first galactosemia conference, and how she turned personal challenges into powerful advocacy—including speaking at national conferences and even before Congress.

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• Exploring Bone Marrow Transplant in Galactosemia

  In this episode, we dive into new research on bone marrow transplantation as a potential approach to treating Classic Galactosemia. Dr. Judy and her team share insights from their recent study, walking us through why they pursued this line of research, how the experiments were designed, and what they discovered. We talk about the role of biomarkers, the challenges of translating findings from animal models to human patients, and the importance of continued NIH funding to push rare disease science forward. Along the way, the team reflects on their own experiences in the lab and what it means to see their work connect to families living with Galactosemia

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• Navigating State Services and First Foods: Elliot's One Year Update

  After a short hiatus, Ryan and Jill return to share an in-depth update on life with their one-year-old son, Elliot, who has classic galactosemia. They walk through their months-long journey applying for and securing early intervention services in California—what worked, what took far too long, and how they successfully advocated for speech therapy before the typical 18-month threshold. Along the way, they discuss the challenges and wins of Elliot’s first year with solid foods, navigating dietary restrictions, and discovering his first words.

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• Recapping Our Tour of a Gene Therapy Lab - with Jamie Hiegel

  In this episode, Ryan and Jamie Hiegel recap their experience of getting invited to tour Catalent, a gene therapy lab. We were invited by Bridge Bio, a company currently working on gene therapy targeted at those with galactosemia. We discuss the relationship between BridgeBio, Gondola BIo, and catalent, and we break down our evolving (and sometimes confused) understanding of how gene therapy works. Jamie shares his perspective as an adult living with galactosemia, including why he would be first in line to volunteer for a future clinical trial. We also dive into Jamie’s recent honeymoon in the Galapagos and the unexpected challenges of managing a restricted diet abroad. thegalactosemiapodcast.com – support the show; ad-free and early access episodesGuest Bios:Jamie Heigel is a science teacher and certified athletic trainer in Richmond, VA. Diagnosed with classic galactosemia at birth, Jamie overcame early speech and learning challenges to become an All-American in track and field at Bridgewater College. He is now the race director for the GLOW 5K fundraiser and a passionate advocate for awareness, education, and community connection within the galactosemia world.Episode Chapters:00:00 Disclaimer: We Might Get This Wrong01:28 Arriving in Baltimore and Beating the Heat02:34 Why We Were Invited: BridgeBio, Gondola, and Catalent04:15 What Catalent Actually Does08:40 Explaining Galactosemia to the Lab Team10:33 A Crash Course in Gene Therapy14:22 Jamie would sign up for the trial17:12 Risks, Hopes, and the Weight of Decision-Making19:00 What Success Might Look Like in a Trial24:00 Testing Galactose in Cheese26:13 Measuring Success: Breath Tests, GAL-1-P, and Galactitol31:06 The Challenge of Interpreting Biomarkers33:03 Travel Anxiety: Managing Galactosemia on a Honeymoon Yacht40:45 What Jamie Ate (And What He Avoided)44:12 Takeaways for Traveling with Galactosemia46:33 Moving to Richmond and Planning the Next Glow 5K50:17 Wrapping Up

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