Living Ultra Rare: The ABL+ Podcast

In this heartfelt and informative episode of "Ask the Expert," host Barry sits down with Paul Biderman, co-founder of the ABL Plus Foundation. Paul shares his personal journey with a rare disease called A-beta-lipoproteinemia (ABL), an illness so uncommon it affects only a few hundred people worldwide. He reveals the immense challenges of a delayed diagnosis, detailing how his mother's persistence led to a correct diagnosis at six months old after doctors initially called it "failure to thrive."The conversation delves into the vital mission of the ABL Plus Foundation, which works to raise awareness in the medical community and advocate for early, accurate diagnoses for three related "ultra-rare" diseases. Paul highlights the critical need for early intervention, as these conditions inhibit the body's ability to digest fat and absorb essential vitamins, leading to neurological issues, gastrointestinal problems, and even blindness. He shares a powerful story of helping an Australian family facing deportation due to their baby's illness. The episode also touches on the daily struggles of managing the condition, including a strict low-fat diet and the challenge of taking up to 50 pills a day.Paul's story is a compelling reminder that rare diseases are more common than you might think, affecting one in ten Americans. He passionately argues that this is a global issue that deserves more awareness and funding. The foundation is currently working to get these illnesses added to newborn screening panels and is even exploring a new, less invasive way to test for vitamin E absorption.To learn more about the foundation's work, their mission to help patients, and how you can get involved, visit https://ablplusfoundation.org/

In this episode of "Living Ultra Rare," host Paul Biderman interviews Yoyo, a Caltech undergraduate studying biology and chemistry. Yoyo discusses her research on rare diseases, particularly Abetalipoproteinemia (ABL), and her participation in the Harvard Rare Disease Hackathon. Yoyo highlights the challenges of diagnosing ABL, the importance of early intervention, and her current project with the ABL Plus Foundation aimed at incorporating ABL into newborn screening panels. This episode underscores the significance of early diagnosis and community collaboration in improving outcomes for rare disease patients.

Today we speak with Joe who has a rare disorder called Familial Hypobetalipoproteinemia, or FHBL. We discuss his diagnostic odyssey and his quality of life.

Today we have our first interview relating to Chylomicron Retention Disorder as we speak to Riley about her son Luca. Luca was diagnosed as a baby when nurses noticed that he has a unique set of symptoms.

Dr. Cindy Bredefeld joins us to discuss how the body's inability to process certain lipids properly causes issues in patients with ABL, FHBL, and CMRD.

Paul is headed to Washington DC for the National Organization or Rare Disorders. To learn more about The ABL+ Foundation and to donate please visit https://www.ablfoundation.org/donate

Meet Ann Marie and her daughter Aimee, raising Louis, a precocious seven year old with Abetalipoproteinemia. To learn more about The ABL+ Foundation and to donate please visit https://www.ablfoundation.org/donate

Meet Noah. She's a poet in her twenties living with Abetalipoproteinemia. A rare disease doesn't slow her down though. She's making the best of her life. To learn more about The ABL+ Foundation and to donate please visit https://www.ablfoundation.org/donate