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.

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

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.

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. 

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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

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.

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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

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.

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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

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 Galactosemia

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Watch the full PFDD meeting or download the VOP Report here: https://rarediseases.org/externally-led-patient-focused-drug-development-meeting-for-galactosemia/

00:00 – Introduction

04:00 – Welcome from NORD and the Galactosemia Foundation

05:00 – A History of the Galactosemia Foundation

06:00 – Defining “Unmet Needs” for Classic Galactosemia

07:00 – Clinical Overview with Dr. Judy Fridovich-Keil

13:00 – The Impact of Dietary Management: Life-Saving but Not Enough

17:00 – Long-Term Complications Despite Early Intervention

20:00 – Dr. Sheila Farrah’s Remarks from the FDA

21:00 – First Panel: Family Stories Begin

22:00 – Jillian’s Story: Penelope’s Metabolic Crisis and Ongoing Trials

27:00 – Elaine’s Story: Loss, Disability, and Lifelong Care

28:00 – Cassidy’s Story: Slow Processing, Financial Strain

29:00 – Natalie’s Story: Two Children, Cerebral Palsy, and Hormone Therapy

30:00 – Maureen’s Story: POI and Lifelong Academic Struggles

31:00 – Community Discussion: Seizures, Delays, and Systemic Failures

32:00 – Amber’s Story: Clinical Trial Progress and Tremor Improvement

33:00 – Tiffany’s Story: Speech and Occupational Therapy Needs

34:00 – Heather’s Story: Treatment Access and Out-of-Pocket Costs

35:00 – Amy’s Story: Clinical Trial Experience and the Ethics of Placebo

36:00 – Final Reflections: The Need for Treatment Is Clear

37:00 – Brittany and Scott Close the Meeting: What Comes Next?

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.

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Links & Resources Mentioned:

Babble Bootcamp Online Course: https://www.northernspeech.com/early-intervention/babble-boot-camp-basic-training/

Guest Bio:

About Dr. Beate Peter

Dr. 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 Peter

02:00 – The Birth of Babble Bootcamp

06:00 – Dr. Peter’s Unlikely Path from Literature to Genetics

09:00 – What Are Genetic Substrates of Speech?

11:00 – Building Resilience in At-Risk Infants

13:00 – Early Intervention in Galactosemia: A New Model

15:00 – Battling Policy Barriers to Infant Speech Services

17:00 – Global Expansion: Australia and Canada Join the Movement

19:00 – What Exactly Is Babble Bootcamp?

21:00 – The First Pilot Study: Cheese-Its and a $8,000 Grant

23:00 – Weekly Zooms, Parent Coaching, and a Million-Dollar NIH Grant

25:00 – Rethinking Clinical Trials: Creating an Ethical Control Group

28:00 – The Babbling Graph: Data That Changed the Game

32:00 – Listening to Babble: What the Sounds Reveal

35:00 – From Babble to Words: Why It Matters

38:00 – Parent-Led Therapy and the Power of Dosage

42:00 – Real Families, Real Outcomes

45:00 – Empowering Parents with Knowledge

47:00 – A Mother of Five and a Sixth Child’s New Path

49:00 – The Genetics of Speech: Current Landscape and Gaps

51:00 – Enter Down Syndrome: Babble Bootcamp Adapts

54:00 – Tailoring Strategies to Visual, Hearing, and Motor Challenges

56:00 – Proof of Concept: Galactosemia’s Lasting Impact

58:00 – Strategy Roundup: What to Do at 2, 5, 8, 14, and 24 Months

1:06:00 – Where to Learn More & How to Get Involved

1:08:00 – Final Thoughts and a Thank You to Dr. Peter

In this episode of The Galactosemia Podcast, we’re joined by Dr. Synneva Hagen Lillevik, a registered dietitian and researcher, to explore her groundbreaking work on the potential benefits of purple sweet potatoes in treating Classic Galactosemia. Dr. Hagen Lillevik shares insights from her recent studies, offering hope and new directions for dietary management of this rare condition.

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Links & Resources Mentioned:

In this episode of The Galactosemia Podcast, Ryan sits down with Dr. Sandy Van Calcar—registered dietitian, researcher, and one of the leading experts on dietary management of classic galactosemia. From growing up on a dairy farm to leading research that shaped today’s international guidelines, Dr. Van Calcar brings decades of experience and clarity to a topic that can be overwhelming for new families.

Together, they dive deep into the science and practical realities of managing the galactosemia diet, breaking down essential concepts like endogenous galactose production, free vs. bound galactose in food, and why some aged cheeses may actually be safe to eat.

She also shares the story of how her team tested dozens of foods—including cheeses and legumes—to inform the current recommendations. Plus, they discuss bone health, label reading, and why parents shouldn’t panic if a mistake happens.

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Join or donate to the galactosemia podcast GLOW team: https://runsignup.com/elliotscrew

Resources mentioned:

• International Galactosemia Guidelines: https://pmc.ncbi.nlm.nih.gov/articles/PMC5306419/

• Guideline Supplementary Content: https://pmc.ncbi.nlm.nih.gov/articles/instance/5306419/bin/10545_2016_9990_MOESM1_ESM.pdf

• Dr. Van Calcar’s presentation PDF: https://docs.google.com/presentation/d/1z8tuyvAENH-jAKtp8WL0RkTv3QquiZYM/edit?usp=sharing&ouid=115342045423373001199&rtpof=true&sd=true

• Published Papers from the Cheese and Food Testing Research: 

• https://drive.google.com/file/d/1iIlhQ1n23lL26HXTFpcfmQO1fomPcVoc/view?usp=sharing

• https://drive.google.com/file/d/1u6kwjcjZaM-wLRD8nt7lHThnjrClW7ui/view?usp=drive_link

Guest Bio:

Dr. Sandy Van Calcar is a registered dietitian and researcher specializing in inborn errors of metabolism, with a particular focus on classic galactosemia. She holds a PhD in Nutritional Sciences and currently works at Oregon Health & Science University in the Department of Molecular and Medical Genetics.

Dr. Van Calcar has been instrumental in shaping modern dietary guidelines for galactosemia. She’s known for her groundbreaking work analyzing galactose content in foods, including leading a task force that tested aged cheeses and other products for their safety. She’s also a key contributor to the International Galactosemia Guidelines and a founding member and past president of Genetic Metabolic Dietitians International.

Her unique background—from growing up on a dairy farm to becoming a national voice in metabolic nutrition—makes her one of the most trusted experts in this space.