Barry Funkhouser, Paul Biderman and guests discuss living with ultra-rare diseases. The goal of this podcasts is to raise awareness about rare illness and the people who live with them.
You can even listen to it right on the new website or on Spotify. In the most recent episode, Investigating adding ABL and related disorders to newborn screening panels, October 2024, Paul interviews Yoyo Benchetrit, the university student mentioned above who became interested in our cause when she attended the Harvard Rare Disease Hack-A-Thon, and she’s become very involved in multiple projects that we are working on. In the interview, 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, FHBL, and CMRD into newborn screening panels done in most American states called the Recommended Uniform Screen Panel (RUSP).
In addition to this one, there are six other episodes available on the Ultra Rare Podcast:
Episode 1 – Noah the Poet, October 2023. 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.
Episode 2 – Ann Marie and Aimee and Louis, October 2023. Meet Ann Marie and her daughter Aimee, raising Louis, a precocious seven years old with Abetalipoproteinemia.
Episode 3 – All about the NORD Summit, October 2023. Paul and Josh talk to Barry about their own experiences living with ultra-rare disease and about The NORD Summit, the event which joins patients, researchers and scientists, doctors, pharma and biotech innovators, and others to tackle the most pressing issues facing the rare disease community.
Episode 4 – Lots of Lipids with Dr. Cindy Bredefeld from NYU, December 2023. Dr. Cindy Bredefeld joins Paul and Barry to discuss how the body’s inability to process certain lipids properly causes issues in patients with ABL, FHBL, and CMRD.
Episode 5 – Riley, Luca and Chylomicrons, January 2024. Barry and Paul have their first interview relating to Chylomicron Retention Disorder as they speak to Riley about her son Luca who was diagnosed as a baby when nurses noticed that he has a unique set of symptoms.Episode 6 – The other betalipoproteinemia, February 2024. Barry and Paul speak with Joe who has a rare disorder called Familial Hypobetalipoproteinemia, or FHBL. They discuss Joe’s diagnostic odyssey and his quality of life.
Episode 6 – The other betalipoproteinemia, February, 2024. Barry and Paul speak with Joe who has a rare disorder called Familial Hypobetalipoproteinemia, or FHBL. We discuss his diagnostic odyssey and his quality of life.