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: This episode is made possible thanks to our sponsor ChemGenes Donate to n-Lorem and Make Hope Possible Register to attend the 2026 Nano-rare Patient Colloquium