The Galactosemia Podcast

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

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. 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

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

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

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?

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

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 episodesLinks & Resources Mentioned:Purple Sweet Potato Study - https://www.mdpi.com/1422-0067/23/15/8654Guest Bio – Dr. Synneva Hagen LillevikDr. Synneva Hagen Lillevik is a registered dietitian and a postdoctoral research fellow with a robust background in nutrition and metabolic disorders. She completed her PhD at the University of Utah, where her research significantly advanced the understanding of primary ovarian insufficiency in Classic Galactosemia. Dr. Hagen Lillevik is particularly noted for her pioneering work on the use of purple sweet potatoes to mitigate oxidative stress associated with metabolic disorders. Currently, she continues her research at the University of Colorado Anschutz Medical Campus, focusing on nutrition’s role in preventing and managing gestational diabetes. Her work exemplifies a deep commitment to integrating clinical practice with research to improve patient outcomes in rare metabolic diseases.Episode Chapters:0:00 – Introduction to the Episode and Overview of Dr. Synneva Hagen Lillevik’s Work2:00 – Dr. Synneva Hagen Lillevik: A Journey Through Nutrition and Metabolic Research4:30 – Exploring the Potential of Purple Sweet Potatoes in Classic Galactosemia Treatment7:00 – Investigating Primary Ovarian Insufficiency in Classic Galactosemia Patients11:00 – The Broader Impacts of Dr. Hagen Lillevik’s Research on Patient Care15:00 – Future Research Directions and the Promise of Dietary Interventions20:00 – Nutritional Strategies and Dietary Management of Galactosemia25:00 – Listener Q&A: Practical Advice on Diet and Daily Management of Galactosemia30:00 – The Critical Role of Antioxidants in Managing Symptoms of Galactosemia38:00 – Behind the Scenes: The Motivations and Aspirations of a Galactosemia Researcher42:00 – Building a Supportive Community for Rare Diseases Through Research and Advocacy45:00 – Conclusion: Key Takeaways and Closing Thoughts on Galactosemia Research

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 episodesJoin or donate to the galactosemia podcast GLOW team: https://runsignup.com/elliotscrewResources 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.pdfDr. Van Calcar’s presentation PDF: https://docs.google.com/presentation/d/1z8tuyvAENH-jAKtp8WL0RkTv3QquiZYM/edit?usp=sharing&ouid=115342045423373001199&rtpof=true&sd=truePublished Papers from the Cheese and Food Testing Research: https://drive.google.com/file/d/1iIlhQ1n23lL26HXTFpcfmQO1fomPcVoc/view?usp=sharinghttps://drive.google.com/file/d/1u6kwjcjZaM-wLRD8nt7lHThnjrClW7ui/view?usp=drive_linkGuest 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: thegalactosemiapodcast@gmail.comDetails: 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.orgJoin or donate to the galactosemia podcast GLOW team: https://runsignup.com/elliotscrewJamie 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 & Updates2:00 – Meet Jamie & the GLOW 5K4:30 – Childhood Memories & Food Restrictions7:00 – Growing Up with CG11:00 – Early Intervention & Learning Challenges15:00 – Dyslexia, Social Cues, and Finding Community20:00 – Discovering Running & Discipline25:00 – Surgery, Recovery & Training30:00 – College Years, Epilepsy, and Medication38:00 – Teaching High School Science with CG42:00 – How Students React to Learning About Galactosemia45:00 – Introducing Jamie’s Wife, Brie46:00 – Their Relationship & Navigating Food as a Couple51:00 – Wedding Planning with CG in Mind54:00 – Best Dairy-Free Products & Snacks56:00 – Brie on Advocacy and Understanding59:00 – Glow 2025: Taking the Baton from Britt Cudzilo1:04:00 – 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 episodesTo contribute to the new parent episode, send an email to: thegalactosemiapodcast@gmail.comDetails: 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 Sapia0:04:00 – Explaining Galactosemia & Everyday Advocacy0:10:00 – From ICU Nurse to Rare Disease Mom0:16:00 – IVF Journey, Birth, and Metabolic Crisis0:23:00 – Trauma, Recovery, and Postpartum Depression0:29:00 – Seizures, Comorbidities, and Searching for Answers0:38:00 – Chiari Malformation, Brain Surgery & Family Impact0:45:00 – Govorestat Trial: Hopes, Setbacks & Improvements0:56:00 – Advocacy at the FDA & The PFDD Meeting1:03:00 – The Patient Registry & Building a Case for Treatment1:10:00 – Living with Progress: Govorestat’s Effect on Penelope1:16:00 – 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 episodesTo contribute to the new parent episode, send an email to thegalactosemiapodcast@gmail.com 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.orgGalactosemia 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.pdfFDA 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 & Updates0:02:00 – Meet Britt Zillow0:04:45 – Life Before Galactosemia0:06:00 – Ansel’s Premature Birth & NICU Experience0:09:00 – The Diagnosis & Feeding Crisis0:13:00 – Adjusting at Home, Finding the Foundation0:17:00 – The Second Diagnosis: Louise0:24:00 – Comparing Development: Louise vs. Ansel0:27:00 – Creating GLOW: From Idea to Reality0:34:00 – Growth of GLOW & Community Impact0:40:00 – Stepping Back & Handing Off GLOW0:44:00 – Britt’s Role on the Galactosemia Foundation Board0:49:00 – The PFDD Meeting & Voice of the Patient Report0:52:00 – Creating the Galactosemia Handbook0:56:00 – Reflections on Therapies & Govorestat1:04:00 – Clinical Trials: The Emotional Toll and Family Impact1:08:00 – Final Reflections

thegalactosemiapodcast.com - support the show; ad-free and early access episodesTo contribute to the new parent episode, send an email to thegalactosemiapodcast@gmail.com 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.orgUK Facebook Page: https://www.facebook.com/groups/354881311337724Babble 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 galactosemiaWhat vitreous hemorrhage is and how it has affected Iris’ visionThe importance of early intervention for speech & mobility in children with galactosemiaNavigating the UK healthcare system vs. the US system for rare diseasesChallenges with childcare, explaining dietary restrictions, and finding the right supportBecca’s goal to raise £18,000 for galactosemia research & supportThe importance of advocating for early speech therapy and medical awarenessGuest 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 - Intro0:02:00 - Meet Becca Jones0:04:45 - Iris’ Galactosemia Diagnosis0:09:00 - Newborn Screening in the UK0:13:45 - Delayed Diagnosis Challenges0:19:30 - Liver Complications & Symptoms0:27:00 - Vitreous Hemorrhage Explained0:34:45 - Eye Surgeries & Recovery0:41:30 - Iris’ Development & Speech0:46:15 - Managing Childcare & Diet0:52:30 - UK vs. US Healthcare0:59:00 - Early Intervention Struggles1:07:00 - Raising Awareness & Fundraising1:12:45 - How Iris is Doing Now

thegalactosemiapodcast.com - support the show; ad-free and early access episodesTo contribute to the new parent episode, send an email to thegalactosemiapodcast@gmail.com 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.70013GLOW for Galactosemia - glowforgalactosemia.orgIn 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 researchThe founding and mission of GalNet: A global research network for galactosemiaWhy newborn screening varies across countries and its impact on early diagnosisThe complexity of galactosemiaZebrafish as a research model for galactosemia and what they revealExploring pharmacological chaperones as a potential treatmentThe role of GALK1 inhibitors and their potential in managing galactosemiaThe promise and challenges of gene therapy for metabolic disordersThe importance of multidisciplinary collaboration in rare disease researchHow the scientific community and families can work together to push for progressGuest 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.

thegalactosemiapodcast.com - support the show; ad-free and early access episodesLinks & Resources Mentioned:Babble Bootcamp - https://www.northernspeech.com/competency-courses/babble-boot-camp-basic-training/Apraxia Kids Foundation - Apraxiakids.comGLOW for Galactosemia - glowforgalactosemia.orgIn this episode, we speak with Dr. Nancy Potter, speech-language pathologist and creator of Babble Boot Camp, the world’s first early speech intervention program designed for infants at risk for speech and language delays, including children with galactosemia. Dr. Potter shares her journey from driving cross-country to study childhood apraxia of speech to leading groundbreaking research that empowers parents to support their child’s communication from infancy.You’ll hear personal stories, practical tips, and the latest research on how early intervention can make a lasting difference in speech development.Key Topics Discussed:Dr. Potter’s career path and connection to galactosemia researchUnderstanding the differences between speech and language disordersThe origin, goals, and successes of Babble Boot CampHow early intervention leverages brain plasticity for speech developmentTips for parents to support speech and language at homeNavigating insurance and accessing early intervention servicesThe importance of community support Guest Bios: Dr. Nancy Potter is a professor of speech and hearing sciences with over 40 years of experience in pediatric speech-language pathology. She has led pioneering research in childhood apraxia of speech, particularly in children with galactosemia. Dr. Potter co-founded Camp Candoo and developed Babble Boot Camp, an innovative early intervention program helping children build strong foundations in speech and language.00:00:00 Intro00:01:45 Meet Dr. Nancy Potter00:04:15 Dr. Potter’s Journey into Speech Pathology00:07:30 Discovering Galactosemia & Childhood Apraxia of Speech00:11:00 Research Challenges & Nationwide Study00:15:20 Defining Speech vs. Language Disorders00:20:50 Understanding Childhood Apraxia of Speech (CAS)00:24:10 The Babble Boot Camp Origin Story00:29:00 Parent Implementation & Success Stories00:34:30 Early Intervention: Why Timing Matters00:40:15 Speech and Literacy Connections00:45:40 Insurance, Access, & Navigating Support Systems00:55:30 Practical Tips for Parents at Home01:00:45 Community Support 01:05:10 Reflecting on Research Progress & Gratitude01:10:00 Final Takeaways & Words of Encouragement01:15:00 Recap Time

thegalactosemiapodcast.com - support the show; ad-free and early access episodesLinks & Resources Mentioned:Find your senators & representatives: https://www.congress.gov/members/find-your-member NIH Budget Cut Order: https://grants.nih.gov/grants/guide/notice-files/NOT-OD-25-068.htmlIn this episode, we sit down with Dr. Judith Friedovich-Keil (Emory University), Dr. Nancy Potter (Washington State University, retired), and Dr. Beata Peter (Arizona State University) to discuss the recent executive order cutting NIH funding and how it directly affects medical research and the galactosemia community. We explore the real-world impact of capping indirect costs at 15% (down from 50-60%), what this means for ongoing research, and how families can take action.From understanding how Babble Boot Camp came to life through NIH funding to learning about the potential $140 million budget cuts at major universities, this conversation discusses what’s at stake for future medical advancements.Key Topics Discussed:The importance of NIH funding for rare disease researchHow indirect cost caps affect university research infrastructureReal-life examples of research projects that would not exist without NIH supportThe origins of Babble Boot Camp and how it improves speech outcomes for children with galactosemiaThe broader implications of NIH cuts beyond galactosemia—impacting cancer, diabetes, and genetic disorder researchThe legal process surrounding the temporary restraining order (TRO) and the upcoming decision from Judge Angel KelleyHow families and individuals can advocate for continued NIH fundingGuest Bios: Dr. Judy Fridovich-Keil – Professor at Emory University with over 30 years of NIH-funded research, specializing in gene therapy and biomedical research, specifically around galactosemia.Dr. Nancy Potter – Retired professor from Washington State University whose foundational study led to the creation of Babble Boot Camp, improving early intervention for children with galactosemia.Dr. Beata Peter – Associate professor at Arizona State University who led the Babble Boot Camp clinical trial, demonstrating the program’s effectiveness in improving babble complexity in infants.00:00 – Introduction & Episode Overview06:00 – What Are Indirect Costs and Why Do They Matter?10:00 – NIH Budget Cuts Explained15:00 – The Real Impact on Universities and Research Labs20:00 – Dr. Potter’s Story25:00 – Babble Boot Camp Results30:00 – The Hidden Costs of Clinical Trials and Research Infrastructure35:00 – NIH Grants40:00 – How These Cuts Affect Families 45:00 – The Legal Battle50:00 – How to Advocate

thegalactosemiapodcast.com - support the show; ad-free and early access episodesLinks & Resources Mentioned:Individuals with Disabilities Education Improvement Act (IDEA)Every Student Succeeds ActSection 504 of the Rehabilitation ActIn this episode, we sit down with Dr. Karolyn Mauer, an expert in special education, to break down the educational landscape for children with galactosemia. Dr. Mauer explains everything from early interventions to transition services, helping parents understand their rights and the supports available through the public education system. This conversation demystifies special education terminology and provides practical guidance for navigating school-based services.Key Topics Discussed:Early intervention services (birth to age 3) and how to access themThe transition from IFSP to IEP at age 3The 13 disability classifications under IDEADifferent classroom settings and the concept of least restrictive environmentThe difference between IEPs and 504 plansExecutive functioning skills and supportsHigh school completion options and transition servicesParent and student rights in the special education processHow to be an effective advocate for your childGuest Bio: Dr. Karolyn Mauer is an assistant professor at Minnesota State University, where she trains special education teachers. She has extensive experience as a special education teacher, director of special education, and instructional coach. Dr. Mauer has worked with students from kindergarten through high school and holds a Ph.D. in special education from UCLA/Cal State LA's joint doctoral program.00:00 - Introduction & Episode Overview 04:00 - Dr. Maurer's Background & Experience 11:00 - Understanding Early Intervention 15:00 - How to Request Services 21:00 - Breaking Down IEPs 25:00 - Parent Rights & Involvement 30:00 - The 13 Disability Classifications 34:00 - Classroom Settings & Placement Options 38:00 - Understanding Self-Contained Classrooms 41:00 - Understanding 504 Plans 45:00 - Types of Accommodations 48:00 - Executive Functioning Explained 52:00 - High School & Beyond 56:00 - Alternative Assessment Options 59:00 - Educational Advocates 1:01:00 - Transition Services (18-21) 1:04:00 - Recap & Key Takeaways

thegalactosemiapodcast.com - support the show; ad-free and early access episodesLinks & Resources Mentioned:Galactosemia Foundation: galactosemia.orgDr. Berry’s Paper “Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?” Link: https://drive.google.com/file/d/1nfWpURDtYK619CZbMHL0FrsHpTlyodW7/view?usp=sharingGrant Abstract “Optimal Window of Opportunity for Granulosa Cell Gene Therapy in Galactosemia”: https://reporter.nih.gov/search/-xJ3CNT65k68090tWRqEwQ/project-details/10787066#similar-ProjectsTo participate in Dr. Berry’s long-term study on galactosemia outcomes, email: gerard.berry@childrens.harvard.eduIn this episode, we sit down with Dr. Gerard Berry, a world-renowned biochemical geneticist and pediatric endocrinologist, to discuss his decades of research in galactosemia. Dr. Berry shares his journey into the field, explains the complexities of the disorder, and sheds light on new potential treatments, including gene therapy and myo-inositol supplementation. He also discusses the history of galactosemia research, the challenges of treatment, and the promising future of medical advancements. This conversation is packed with fascinating insights and hope for the future.Key Topics Discussed: Dr. Berry’s career and how he became a leading researcher in galactosemia The biochemical complexity of galactosemia and why dietary restriction alone isn’t enough The history of galactosemia research and how our understanding has evolved Potential treatments, including gene therapy, prenatal interventions, and myo-inositol supplementation Why galactosemia presents differently in individuals and the role of genetic modifiers The ethical challenges in developing new therapies The future of galactosemia research and what gives Dr. Berry hopeGuest Bio: Dr. Gerard Berry is a leading biochemical geneticist and pediatric endocrinologist specializing in metabolic disorders, including galactosemia. He has published over 225 peer-reviewed papers and held prestigious positions at institutions like Boston Children’s Hospital and the Broad Institute of Harvard and MIT. Dr. Berry’s groundbreaking research has advanced our understanding of galactosemia, and he continues to work toward better treatments and, ultimately, a cure.00:00 Intro00:02:30 - Meet Dr. Gerard Berry00:06:30 - What is Galactosemia?00:14:00 - The Early Days of Galactosemia Research00:22:00 - The Biochemistry of Galactosemia00:30:00 - Complications & Global Impact00:38:00 - The Future of Treatment00:46:00 - Prenatal & Early Interventions00:53:00 - The Role of Myo-Inositol in Galactosemia01:12:00 - Why Symptoms Vary01:20:00 - Galactosemia Across the World01:30:00 - Hope for the Future