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.

Learn more about the n-Lorem Foundation at www.nlorem.org.

Cathy Kettner and Sharon Sprangers spoke with Local 5’s Stacy Engebretson on her Off The Desk program to highlight the importance of research, especially for such a rare form of the cruel disease.

Listen to Dr. Neil Shneider’s speech titled “Silence ALS: Beyond the Nano-rare” at the 2025 Nano-rare Patient Colloquium.