The Galactosemia Podcast

• A Delayed Diagnosis & A Rare Complication - Feat. Becca Jones

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

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  1:19:04
• New Treatments, Big Questions: What’s next for Galactosemia? Feat. Dr. Estela Rubio Gozalbo

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

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  1:14:20
• Babble Bootcamp: Speech Support & Early Intervention feat. Dr. Nancy Potter

  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

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  1:24:37
• The Battle for NIH Funding: Impact on Galactosemia Research

  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

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  55:56
• IEPs and 504s: Understanding Educational Support ft. Dr. Karolyn Maurer

  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

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  1:18:26

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