#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I

To kick off Rare Disease Month we are thrilled to share the pilot of the newest podcast in our Gene Pool Media science podcast network, Rare Rebels.

The Rare Rebels™ Podcast shares raw, unscripted conversations with patients, caregivers, researchers, and advocates who are changing the future of rare disease. Through these real voices, Rare Rebels builds understanding, inspires action, and drives change.

The host Melody Joy Paine is a thought provoking and empathic interview. It is not surprising that she has won multiple awards for her storytelling and advocacy work.

In this episode, a rare disease dad and advocate, Mark Dant, tells the story of his son, Ryan, being diagnosed with Mucopolysaccharidosis Type I, and the scientist Dr. Emil Kakkis whose persistence changed their lives.

In This Episode:

• Mark Dant’s personal journey as a parent advocate after his son Ryan’s diagnosis with MPS I
• Being told “nothing can be done” and choosing to challenge that narrative
• Navigating rare disease advocacy before the internet, social media, or established drug development pathways
• Teaching himself medical and scientific concepts without formal training
• Early advocacy tactics: medical dictionaries, libraries, conferences, and cold outreach
• Building a nonprofit organization from the ground up to support research and families
• The fragmented healthcare and research system rare disease families faced in the 1990s
• The critical role of relationships in advancing rare disease research
• Mark’s partnership with physician-scientist Dr. Emil Kakkis and how trust fueled progress
• Bridging families, clinicians, and researchers to accelerate treatment development
• The path to developing the first treatment for MPS I
• How one family’s advocacy changed outcomes for future patients
• Parents as drivers of innovation in rare disease
• Persistence, collaboration, and problem-solving in the absence of clear systems
• Enduring lessons for today’s rare disease community and advocates

Gene Pool Media: The Science Podcast Network:

Rare Rebels is the newest show on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below!

• RealPharma
• Beyond The Thesis with Papa PhD
• DNA Dialogues
• It Happened To Me
• All Access DNA
• #ThroughTheGenes
• Demystifying Genetics
• PhenoTips Speaker Series
• Parálisis Cerebral Respuestas
• Humanism Today
• Gods and Genes

If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at info@genepoolmedia.com. We’d love to chat with you about the benefits of joining the network.

Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today.

Relevant Resources:

Rare Rebels Website

Rare Rebels on Spotify

Rare Rebels on Apple Podcasts

MedlinePlus’ Mucopolysaccharidosis type I (Hurler Syndrome) Page

Genetic Rare Disease Information Center: Mucopolysaccharidosis Type 1 Page

Gene Reviews’ Mucopolysaccharidosis Type I Page

Dr. Emil Kakkis Developing Enzyme Replacement Therapy for MPS I

The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD)

National Organization For Rare Disorders (NORD)

EveryLife Foundation For Rare Diseases

Relevant DNA Today Podcast Episode:

#171 Farber Disease with Aceragen (also a lysosomal storage disorder)

#292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research)

#372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy

#371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

#376 Why Females with Fabry Disease Aren’t “Just Carriers” (Also a lysosomal storage disorder)

#378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients

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