GALACTOSEMIA ALL ACCESS

Ad free and early access to all episodes

$7.99/mo or $89.99/yr after trial

The Galactosemia Podcast

Ryan and Jill
  • 5.0 (10)
  • MEDICINE
  • UPDATED WEEKLY

The Galactosemia Podcast is a resource for understanding and navigating life with galactosemia. Whether you’re a new parent grappling with a recent diagnosis or a member of the community seeking updates, this podcast has you covered. Each episode dives deep into the science, treatments, and real-life experiences of families and experts dealing with this rare genetic condition. Join us as we interview doctors, researchers, and families to share insights, practical advice, and hope for the future.

  1. FEB 11

    Why BridgeBio Stopped Galactosemia Gene Therapy

    BridgeBio recently stopped their research and development of gene therapy for Galactosemia. This came as a shock to many of us. I talked to the CEO of BridgeBio on the phone, and in this episode I report back what he told me.

    19 min

  2. 09/17/2025

    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 - Amanda.Rohrig@bridgebio.com

    1h 5m

  3. 09/07/2025

    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.

    47 min

  4. 08/22/2025

    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

    1h 24m

  5. 08/16/2025

    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.

    36 min

  6. 07/03/2025

    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 episodes Guest 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 Wrong 01:28 Arriving in Baltimore and Beating the Heat 02:34 Why We Were Invited: BridgeBio, Gondola, and Catalent 04:15 What Catalent Actually Does 08:40 Explaining Galactosemia to the Lab Team 10:33 A Crash Course in Gene Therapy 14:22 Jamie would sign up for the trial 17:12 Risks, Hopes, and the Weight of Decision-Making 19:00 What Success Might Look Like in a Trial 24:00 Testing Galactose in Cheese 26:13 Measuring Success: Breath Tests, GAL-1-P, and Galactitol 31:06 The Challenge of Interpreting Biomarkers 33:03 Travel Anxiety: Managing Galactosemia on a Honeymoon Yacht 40:45 What Jamie Ate (And What He Avoided) 44:12 Takeaways for Traveling with Galactosemia 46:33 Moving to Richmond and Planning the Next Glow 5K 50:17 Wrapping Up

    1h 5m

  7. 06/13/2025

    Reading Test Results: Feat. Dr. Michael Gambello & Dr. Tricia Hall

    In this episode, Ryan sits down with two of the top experts in the field to break down what galactosemia test results actually mean. Joining the show are Dr. Tricia Hall, a biochemical genetics lab director at Mayo Clinic who oversees and signs out galactosemia lab results, and Dr. Michael Gambello, a clinical geneticist at Emory University with decades of experience helping families understand metabolic diagnoses. Together, they explain GAL-1P, gene variants like Q188R and L195P, newborn screening false positives, and how to actually read a test result from start to finish. thegalactosemiapodcast.com – support the show; ad-free and early access episodes Guest Bios: Dr. Tricia Hall Tricia Hall, PhD, is a biochemical genetics laboratory director at the Mayo Clinic. She oversees galactosemia testing and personally reviews test results, ensuring they meet quality metrics before they are released. Her expertise includes interpreting enzyme activity, GAL-1-P levels, and coordinating molecular data with clinical findings to support accurate diagnoses. Dr. Michael Gambello Michael Gambello, MD, PhD, is a clinical geneticist and professor at Emory University with more than 25 years of experience working with families affected by rare metabolic conditions. He specializes in translating complex genetic data into actionable, understandable insights for patients and caregivers. He is also a frequent collaborator on galactosemia research and a colleague of Dr. Judy Fridovich-Keil. Episode Chapters: 00:00 Introduction 01:30 Meet the Guests: Dr. Hall and Dr. Gambello 05:42 What Lab Directors Actually Do 07:58 From Blood to Result: The Testing Process Explained 10:29 What GAL-1-P and GALT Levels Really Tell Us 13:45 Gene Basics 101: How Mutations Affect Proteins 18:22 Breaking Down Variant Reports (e.g. p.L195P and Q188R) 26:08 Recessive Inheritance and Carrier Status 30:25 Why Some Labs Use GAL-1-P and Others Use Galactitol 34:10 False Positives in Newborn Screening 39:12 Why You Might Be Told “It’s Probably Nothing” 42:48 Should Parents Request Extra Testing? 47:00 How Many Variants Can Cause Galactosemia? 49:20 Real Test Reports: Reading Line by Line 56:44 Creating Better Awareness and Advocacy 59:30 Final Thoughts and Takeaways

    1h 24m

  8. 05/29/2025

    Speech Therapist & Galactosemia Parent: Feat. Zara & Fin Betts

    In this episode Ryan sits down with Zara Betts, a seasoned speech and language therapist, mother of two boys with classic galactosemia, and a powerful voice for early intervention. Joining her is her 12-year-old son Fin, who offers his own thoughtful, candid perspective on growing up with the condition. thegalactosemiapodcast.com – support the show; ad-free and early access episodes Links & Resources Mentioned: Fin’s YouTube Channel: https://www.youtube.com/@huskygamer16 NYT Gene Therapy: https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html Guest Bio: Zara Betts is a UK-based speech and language therapist with over two decades of experience in early childhood development. She’s also the mother of two boys with classic galactosemia. Drawing from both professional training and personal experience, Zara has become a passionate advocate for earlier, more accessible speech support for families facing rare metabolic disorders. She currently lives with her family on the island of Guernsey, where she works in both clinical and training roles. Fin Bets Fin is 12 years old and has lived with classic galactosemia his entire life. He loves chocolate, editing videos, and hanging out with his friends. His favorite subject in school is English. 00:00 Intro 03:14 Fin's Perspective on Living with Galactosemia 04:57 Zara's Background and Family Life 06:13 Finn's Birth and Early Challenges 08:56 Diagnosis and Initial Struggles 14:25 Reflecting on the Emotional Journey 22:53 Bode's Birth and Different Experience 27:30 Newborn Screening and Healthcare Insights 31:54 Sibling Differences in Galactosemia 34:28 Navigating Medical Support 37:44 Parental Pressure and Child Development 41:07 Empathy and Professional Growth 47:00 Speech Development and Parental Advice 52:28 Fin's Perspective and Future Aspirations

    1h 3m
See All (25)

Trailer

5
out of 5
10 Ratings

About

The Galactosemia Podcast is a resource for understanding and navigating life with galactosemia. Whether you’re a new parent grappling with a recent diagnosis or a member of the community seeking updates, this podcast has you covered. Each episode dives deep into the science, treatments, and real-life experiences of families and experts dealing with this rare genetic condition. Join us as we interview doctors, researchers, and families to share insights, practical advice, and hope for the future.

Information

  • Creator
    Ryan and Jill
  • Years Active
    2024 - 2026
  • Episodes
    25
  • Rating
    Clean
  • Copyright
    © Ryan and Jill
  • Show Website
    The Galactosemia Podcast
  • Provider
    Ryan Faucett