The Galactosemia Podcast

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

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

thegalactosemiapodcast.com – support the show; ad-free and early access episodes

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.

thegalactosemiapodcast.com – support the show; ad-free and early access episodes

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.

thegalactosemiapodcast.com – support the show; ad-free and early access episodes

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.

thegalactosemiapodcast.com – support the show; ad-free and early access episodes

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.

In this episode of The Galactosemia Podcast, we sit down with Jamie Heigel, a high school science teacher, former All-American track athlete, and race director for the 2025 GLOW for Galactosemia fundraiser. Jamie was born with classic galactosemia and shares how the condition has shaped—but not defined—his life.

Jamie walks us through his early experiences with speech and learning delays, the incredible support from his parents and tutors, and how galactosemia has influenced his discipline in academics and athletics. He opens up about the challenge of developing epilepsy during college, how medication impacted his emotions, and how his wife Bri became his partner in life and advocacy.

Jamie also reflects on taking over the GLOW 5K, building community awareness, and teaching biology while living with a rare metabolic disorder himself.

thegalactosemiapodcast.com – support the show; ad-free and early access episodes

📣 To contribute to the new parent episode, email: [email protected]

Details: Record a video in a quiet room, under 3 minutes. Include your name, your relationship to galactosemia, and a message to a parent who has just received a diagnosis. Thought starters: What advice or words of comfort would you share?

• Glow Fundraiser: glowforgalactosemia.org
  

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

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.

0:00 – Intro & Updates

2:00 – Meet Jamie & the GLOW 5K

4:30 – Childhood Memories & Food Restrictions

7:00 – Growing Up with CG

11:00 – Early Intervention & Learning Challenges

15:00 – Dyslexia, Social Cues, and Finding Community

20:00 – Discovering Running & Discipline

25:00 – Surgery, Recovery & Training

30:00 – College Years, Epilepsy, and Medication

38:00 – Teaching High School Science with CG

42:00 – How Students React to Learning About Galactosemia

45:00 – Introducing Jamie’s Wife, Brie

46:00 – Their Relationship & Navigating Food as a Couple

51:00 – Wedding Planning with CG in Mind

54:00 – Best Dairy-Free Products & Snacks

56:00 – Brie on Advocacy and Understanding

59:00 – Glow 2025: Taking the Baton from Britt Cudzilo

1:04:00 – Fundraising, Self-Promotion & Community Impact

In this episode we sit down with Gillian Sapia, a registered nurse, rare disease advocate, and mom to Penelope, who lives with classic galactosemia. Gillian leads advocacy efforts for the Galactosemia Foundation and works closely with the Haystack Project and EveryLife Foundation to represent rare disease families before the FDA and Congress.

Gillian shares her personal journey: what life was like before Penelope’s birth, the trauma of Penelope’s metabolic crisis, and how she navigated postpartum depression and grief while learning to advocate for her daughter. She opens up about the complexities of raising a child with galactosemia alongside multiple comorbidities, including seizures, autism, and Chiari malformation, and the ways her nursing background and recovery journey shaped her approach to patient advocacy.

This episode also dives into the challenges of participating in a drug trial, her experience with Govorestat (AT-007), and the grassroots advocacy that emerged after the FDA denied accelerated approval. Gillian reflects on the emotional weight of advocacy work and her leadership role as Principal Investigator for the galactosemia patient registry—documenting the burden of disease to support future treatments, newborn screening, and community care.

thegalactosemiapodcast.com – support the show; ad-free and early access episodes

To contribute to the new parent episode, send an email to: [email protected]

Details: Record a video in a quiet room, keep it under three minutes. Include your name, your relationship to galactosemia, and your message to a parent that has just received a new galactosemia diagnosis.

Thought starters: What advice/words of comfort or wisdom would you give to a parent that just received a galactosemia diagnosis?

Guest Bios: 

Gillian Sapia is a registered nurse and rare disease advocate based in Florida. She is a mother to Penelope, who lives with classic galactosemia and multiple comorbidities. Gillian is deeply involved in policy and legislative advocacy for the Galactosemia Foundation and works with national rare disease coalitions such as the Haystack Project and EveryLife Foundation. She also leads the galactosemia patient registry to help researchers better understand the burden of disease and identify paths toward treatment.

0:00:00 – Intro & Meet Gillian Sapia

0:04:00 – Explaining Galactosemia & Everyday Advocacy

0:10:00 – From ICU Nurse to Rare Disease Mom

0:16:00 – IVF Journey, Birth, and Metabolic Crisis

0:23:00 – Trauma, Recovery, and Postpartum Depression

0:29:00 – Seizures, Comorbidities, and Searching for Answers

0:38:00 – Chiari Malformation, Brain Surgery & Family Impact

0:45:00 – Govorestat Trial: Hopes, Setbacks & Improvements

0:56:00 – Advocacy at the FDA & The PFDD Meeting

1:03:00 – The Patient Registry & Building a Case for Treatment

1:10:00 – Living with Progress: Govorestat’s Effect on Penelope

1:16:00 – Final Reflections & Looking Ahead

In this episode of The Galactosemia Podcast, we sit down with Britt Cudzilo, mother of four, Vice President of the Galactosemia Foundation, and founder of the annual GLOW fundraiser. Two of Britt’s daughters have classic galactosemia. Britt shares the emotional journeys of both diagnoses, the stark differences in how galactosemia has affected each child, and how that led her to build one of the community’s most impactful fundraisers.

She opens up about the traumatic NICU experience with her daughter Ansel, how she balanced care for a newborn with two other young children at home, and the grief she experienced. Britt also talks about founding the GLOW run (and handing it off), her role with the Galactosemia Foundation, and the behind-the-scenes work of building trust with pharmaceutical partners.

thegalactosemiapodcast.com - support the show; ad-free and early access episodes

To contribute to the new parent episode, send an email to [email protected] 

Details: Record a video in a quiet room, keep it under three minutes. Include your name, your relationship to galactosemia, and your message to a parent that has just received a new galactosemia diagnosis. Thought starters: What advice/words of comfort or wisdom would you give to a parent that just received a galactosemia diagnosis? 

Links & Resources Mentioned:

Glow Fundraiser: glowforgalactosemia.org

Galactosemia Handbook (from the Foundation + Jaguar Gene Therapy): https://galactosemia.org/resources/galactosemia-handbook/

Voice of the Patient Report: https://rarediseases.org/wp-content/uploads/2023/05/Galactosemia-VOP-Report-FINAL-05.01.2023.pdf

FDA PFDD Meeting video: https://rarediseases.org/externally-led-patient-focused-drug-development-meeting-for-galactosemia/

Guest Bios: 

Brittany Cudzilo is a Knoxville-based mother, advocate, and Vice President of the Galactosemia Foundation. Two of her daughters live with classic galactosemia. In 2018, Britt founded the GLOW fundraiser, which has raised over $200,000 for galactosemia research and support. She now leads pharmaceutical outreach and advocacy efforts on behalf of the Foundation and has helped create major resources like the Galactosemia Handbook and the PFDD meeting with the FDA.

0:00:00 – Intro & Updates

0:02:00 – Meet Britt Zillow

0:04:45 – Life Before Galactosemia

0:06:00 – Ansel’s Premature Birth & NICU Experience

0:09:00 – The Diagnosis & Feeding Crisis

0:13:00 – Adjusting at Home, Finding the Foundation

0:17:00 – The Second Diagnosis: Louise

0:24:00 – Comparing Development: Louise vs. Ansel

0:27:00 – Creating GLOW: From Idea to Reality

0:34:00 – Growth of GLOW & Community Impact

0:40:00 – Stepping Back & Handing Off GLOW

0:44:00 – Britt’s Role on the Galactosemia Foundation Board

0:49:00 – The PFDD Meeting & Voice of the Patient Report

0:52:00 – Creating the Galactosemia Handbook

0:56:00 – Reflections on Therapies & Govorestat

1:04:00 – Clinical Trials: The Emotional Toll and Family Impact

1:08:00 – Final Reflections

thegalactosemiapodcast.com - support the show; ad-free and early access episodes

To contribute to the new parent episode, send an email to [email protected] 

Details: Record a video in a quiet room, keep it under three minutes. Include your name, your relationship to galactosemia, and your message to a parent that has just received a new galactosemia diagnosis. Thought starters: What advice/words of comfort or wisdom would you give to a parent that just received a galactosemia diagnosis? 

Links & Resources Mentioned:

Galactosaemia Support Group UK: galactosaemia.org

UK Facebook Page: https://www.facebook.com/groups/354881311337724

Babble Boot Camp Early Speech Intervention: https://www.northernspeech.com/competency-courses/babble-boot-camp-basic-training/

In this episode of The Galactosemia Podcast, we welcome Becca Jones, a UK parent and advocate, whose daughter Iris was diagnosed with classic galactosemia after a delayed diagnosis. Becca shares her emotional journey navigating the UK healthcare system, advocating for newborn screening, and dealing with an extremely rare eye complication—vitreous hemorrhage.

She also discusses the challenges of early intervention, childcare with dietary restrictions, and her goal of raising £18,000 by Iris’ 18th birthday to support the Galactosaemia Support Group UK.

Key Topics Discussed:

• The emotional impact of a delayed diagnosis and why newborn screening in the UK does not include galactosemia

• What vitreous hemorrhage is and how it has affected Iris’ vision

• The importance of early intervention for speech & mobility in children with galactosemia

• Navigating the UK healthcare system vs. the US system for rare diseases

• Challenges with childcare, explaining dietary restrictions, and finding the right support

• Becca’s goal to raise £18,000 for galactosemia research & support

• The importance of advocating for early speech therapy and medical awareness

Guest Bios: 

Rebecca Jones is a UK-based parent advocate raising awareness for galactosemia after her daughter, Iris, was diagnosed with classic galactosemia following a delayed diagnosis. In addition to navigating the challenges of raising a child with a rare metabolic disorder, Becca has also had to confront an extremely rare eye complication—vitreous hemorrhage—which has impacted Iris’ vision.

Passionate about advocacy and early intervention, Becca is working to raise £18,000 by Iris’ 18th birthday to support the Galactosaemia Support Group UK, a vital resource for families navigating the condition. She actively shares her experiences to raise awareness, educate healthcare professionals, and provide support for other parents facing similar challenges.

0:00:00 - Intro

0:02:00 - Meet Becca Jones

0:04:45 - Iris’ Galactosemia Diagnosis

0:09:00 - Newborn Screening in the UK

0:13:45 - Delayed Diagnosis Challenges

0:19:30 - Liver Complications & Symptoms

0:27:00 - Vitreous Hemorrhage Explained

0:34:45 - Eye Surgeries & Recovery

0:41:30 - Iris’ Development & Speech

0:46:15 - Managing Childcare & Diet

0:52:30 - UK vs. US Healthcare

0:59:00 - Early Intervention Struggles

1:07:00 - Raising Awareness & Fundraising

1:12:45 - How Iris is Doing Now

thegalactosemiapodcast.com - support the show; ad-free and early access episodes

To contribute to the new parent episode, send an email to [email protected] 

Details: Video recording in a quiet room, under three minutes, your message to a parent that has just received a new galactosemia diagnosis. 

Links & Resources Mentioned:

Recent Research on Galactosemia Therapies: https://onlinelibrary.wiley.com/doi/10.1002/jimd.70013

GLOW for Galactosemia - glowforgalactosemia.org

In this episode, Dr. Estela Rubio-Gozalbo, a leading expert in pediatric metabolic diseases and a driving force behind the GalNet research network, shares her journey into metabolic research, the role of GalNet in uniting scientists globally, and the latest advancements in galactosemia studies.

We dive deep into newborn screening disparities, the complexities of galactosemia beyond diet management, and promising therapeutic approaches, including zebrafish models, pharmacological chaperones, and potential gene therapies. This episode highlights why collaboration and continued research are crucial in the fight against galactosemia.

Key Topics Discussed:

• Dr. Rubio’s path into pediatric metabolic disease research

• The founding and mission of GalNet: A global research network for galactosemia

• Why newborn screening varies across countries and its impact on early diagnosis

• The complexity of galactosemia

• Zebrafish as a research model for galactosemia and what they reveal

• Exploring pharmacological chaperones as a potential treatment

• The role of GALK1 inhibitors and their potential in managing galactosemia

• The promise and challenges of gene therapy for metabolic disorders

• The importance of multidisciplinary collaboration in rare disease research

• How the scientific community and families can work together to push for progress

Guest Bios: 
Dr. Estela Rubio-Gozalbo is a professor of metabolic diseases and the head of the Pediatric Metabolic Department at Maastricht University in the Netherlands. She is the chair of the European arm of GalNet and a leading researcher in galactosemia, focusing on metabolic pathways, therapeutic interventions, and newborn screening advocacy. Her work has contributed to groundbreaking insights into the disease, with a mission to improve outcomes for individuals living with galactosemia worldwide.