← Patient Empowerment Program: A Rare Disease Podcast17 jun · 53 min
Patient Story: Understanding ALS with Bill O'Sullivan and Neil Shneider, M.D., Ph.D.
In this episode of the n-Lorem Patient Empowerment Program Podcast, Dr. Stan Crooke is joined by n-Lorem patient Bill O’Sullivan and Dr. Neil Shneider to discuss Bill’s experience living with a rare inherited form of ALS caused by a CHCHD10 mutation. Bill shares his path to diagnosis, the impact of genetic testing, and his experience receiving a personalized antisense oligonucleotide (ASO) treatment designed to target the underlying cause of his disease. Together, they discuss how advances in genetics and precision medicine are creating new possibilities for patients and families affected by rare neurodegenerative diseases.
On this episode we discuss:
00:00 Introduction
00:58 Meet Bill O’Sullivan and Dr. Neil Shneider
03:17 Family history and inherited ALS
06:37 Diagnosis and discovery of CHCHD10
10:02 Early symptoms and diagnostic challenges
20:20 Beginning personalized ASO treatment
22:33 Treatment results and disease stabilization
23:42 Looking ahead: earlier intervention and future generations
27:57 Expanding treatment opportunities through genetic research
Links:
podlinkr.com/patient-empowerment-program-a-rare-disease-podca/1164212509100998
Voor op een poster of slide.