The Galactosemia Podcast

• 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

  --------  

  1:04:31

  --------

  1:04:31
• 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 episodesGuest Bios:Dr. Tricia HallTricia 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 GambelloMichael 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 Introduction01:30 Meet the Guests: Dr. Hall and Dr. Gambello05:42 What Lab Directors Actually Do07:58 From Blood to Result: The Testing Process Explained10:29 What GAL-1-P and GALT Levels Really Tell Us13:45 Gene Basics 101: How Mutations Affect Proteins18:22 Breaking Down Variant Reports (e.g. p.L195P and Q188R)26:08 Recessive Inheritance and Carrier Status30:25 Why Some Labs Use GAL-1-P and Others Use Galactitol34:10 False Positives in Newborn Screening39:12 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 Line56:44 Creating Better Awareness and Advocacy59:30 Final Thoughts and Takeaways

  --------  

  1:23:43

  --------

  1:23:43
• 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 episodesLinks & Resources Mentioned:Fin’s YouTube Channel: https://www.youtube.com/@huskygamer16NYT Gene Therapy: https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.htmlGuest 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 BetsFin 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 Intro03:14 Fin's Perspective on Living with Galactosemia04:57 Zara's Background and Family Life06:13 Finn's Birth and Early Challenges08:56 Diagnosis and Initial Struggles14:25 Reflecting on the Emotional Journey22:53 Bode's Birth and Different Experience27:30 Newborn Screening and Healthcare Insights31:54 Sibling Differences in Galactosemia34:28 Navigating Medical Support37:44 Parental Pressure and Child Development41:07 Empathy and Professional Growth47:00 Speech Development and Parental Advice52:28 Fin's Perspective and Future Aspirations

  --------  

  1:02:48

  --------

  1:02:48
• The Voice of the Patient Report: PFDD Meeting

  In this week’s episode we look back at the PFDD meeting that led to the Voice of The Patient Report, a landmark document in the fight for better treatment options for those living with Classic Galactosemiathegalactosemiapodcast.com – support the show; ad-free and early access episodesWatch the full PFDD meeting or download the VOP Report here: https://rarediseases.org/externally-led-patient-focused-drug-development-meeting-for-galactosemia/00:00 – Introduction04:00 – Welcome from NORD and the Galactosemia Foundation05:00 – A History of the Galactosemia Foundation06:00 – Defining “Unmet Needs” for Classic Galactosemia07:00 – Clinical Overview with Dr. Judy Fridovich-Keil13:00 – The Impact of Dietary Management: Life-Saving but Not Enough17:00 – Long-Term Complications Despite Early Intervention20:00 – Dr. Sheila Farrah’s Remarks from the FDA21:00 – First Panel: Family Stories Begin22:00 – Jillian’s Story: Penelope’s Metabolic Crisis and Ongoing Trials27:00 – Elaine’s Story: Loss, Disability, and Lifelong Care28:00 – Cassidy’s Story: Slow Processing, Financial Strain29:00 – Natalie’s Story: Two Children, Cerebral Palsy, and Hormone Therapy30:00 – Maureen’s Story: POI and Lifelong Academic Struggles31:00 – Community Discussion: Seizures, Delays, and Systemic Failures32:00 – Amber’s Story: Clinical Trial Progress and Tremor Improvement33:00 – Tiffany’s Story: Speech and Occupational Therapy Needs34:00 – Heather’s Story: Treatment Access and Out-of-Pocket Costs35:00 – Amy’s Story: Clinical Trial Experience and the Ethics of Placebo36:00 – Final Reflections: The Need for Treatment Is Clear37:00 – Brittany and Scott Close the Meeting: What Comes Next?

  --------  

  1:37:16

  --------

  1:37:16
• The Science Behind Babbling with Dr. Beate Peter

  In this episode, we dive deep into the groundbreaking science behind Babble Bootcamp, a pioneering early intervention program for children at risk of severe speech disorders. We talked to Dr. Beate Peter: geneticist, speech-language researcher, and co-creator of Babble Bootcamp, to explore how her work is transforming outcomes for children with galactosemia, Down syndrome, and other early-identified developmental risks.thegalactosemiapodcast.com – support the show; ad-free and early access episodesLinks & Resources Mentioned:Babble Bootcamp Online Course: https://www.northernspeech.com/early-intervention/babble-boot-camp-basic-training/Guest Bio:About Dr. Beate PeterDr. Beate Peter is a geneticist and speech-language researcher at Arizona State University whose work bridges the fields of behavioral genetics and speech-language pathology. With a background in clinical speech therapy and a PhD in communication sciences and disorders, she is internationally recognized for her research into the genetic foundations of speech disorders, including apraxia of speech.Dr. Peter is a co-creator of Babble Bootcamp, the first proactive, parent-implemented speech intervention designed specifically for infants with known genetic or developmental risks—starting as early as birth. Her work has focused on children with classic galactosemia, Down syndrome, Bainbridge-Ropers syndrome, and other conditions, aiming to build resilience through early, targeted language support. She is also a passionate educator and advocate for making cutting-edge speech therapy accessible to families around the world.Episode Chapters:00:00 – Introduction: Meet Dr. Beate Peter02:00 – The Birth of Babble Bootcamp06:00 – Dr. Peter’s Unlikely Path from Literature to Genetics09:00 – What Are Genetic Substrates of Speech?11:00 – Building Resilience in At-Risk Infants13:00 – Early Intervention in Galactosemia: A New Model15:00 – Battling Policy Barriers to Infant Speech Services17:00 – Global Expansion: Australia and Canada Join the Movement19:00 – What Exactly Is Babble Bootcamp?21:00 – The First Pilot Study: Cheese-Its and a $8,000 Grant23:00 – Weekly Zooms, Parent Coaching, and a Million-Dollar NIH Grant25:00 – Rethinking Clinical Trials: Creating an Ethical Control Group28:00 – The Babbling Graph: Data That Changed the Game32:00 – Listening to Babble: What the Sounds Reveal35:00 – From Babble to Words: Why It Matters38:00 – Parent-Led Therapy and the Power of Dosage42:00 – Real Families, Real Outcomes45:00 – Empowering Parents with Knowledge47:00 – A Mother of Five and a Sixth Child’s New Path49:00 – The Genetics of Speech: Current Landscape and Gaps51:00 – Enter Down Syndrome: Babble Bootcamp Adapts54:00 – Tailoring Strategies to Visual, Hearing, and Motor Challenges56:00 – Proof of Concept: Galactosemia’s Lasting Impact58:00 – Strategy Roundup: What to Do at 2, 5, 8, 14, and 24 Months1:06:00 – Where to Learn More & How to Get Involved1:08:00 – Final Thoughts and a Thank You to Dr. Peter

  --------  

  1:08:59

  --------

  1:08:59

More Health & Wellness podcasts

Trending Health & Wellness podcasts

About The Galactosemia Podcast