This episode is brought to you by Hongene Biotech!

On this episode we discuss:

2:45 – What Connor’s life was like from birth

4:20 – Finding a SCN2A diagnosis through genomic sequencing

6:40 – A hallway conversation between Kelley and Stan about Connor sparked the idea of the n-Lorem Foundation

9:20 – Dr. Olivia Kim-McManus on engaging and gaining institutional support to treat n-of-1

11:40 – Connor's program was uniquely challenging

14:18 – Connor unknowingly had coronavirus upon receiving his first ASO dose

18:00 – Symptoms that affect Connor’s life on a daily basis

18:55 – Connor has walked unassisted for the first time in his life

26:10 – Finding the optimal treatment dose and schedule

29:05 – Improvement of painful gastrointestinal (GI) issues

Bios:

Kelley Dalby is the Director of Natural History and Diagnostics in Epilepsy at Praxis Precision Medicines, where she has worked for four years. Kelley worked as a high school English teacher in San Diego until her son Connor was born with a severe form of epilepsy caused by a mutation in the SCN2A gene. When he was diagnosed, she co-founded a biotechnology company, RogCon, focused on discovering therapies for SCN2A mutations. Kelley served as Vice President and contributed to the companies’ success, including licensing the primary program to Praxis Precision Medicines.

Dr. Olivia Kim-McManus is an Associate Clinical Professor, UC San Diego School of Medicine Dept of Neurosciences, Pediatric Neurologist and Epileptologist, Rady Children’s Hospital Precision Therapeutics Neuro-Interventional Program Director. She received her undergraduate degree in Neurosciences at Columbia University in New York City and medical degree at George Washington University Children’s National Medical Center. She specializes in treating children with medically intractable epilepsy due to rare genetic etiologies requiring targeted genetic therapies or epilepsy surgery. She is the Director of the Batten’s Disease Neuro-infusion Program at Rady Children’s Hospital where she delivers intraventricular cerliponase-alfa enzyme replacement therapy via Ommaya reservoir targeted for disease modifying therapy for rare pediatric genetic disease. Dr. Kim-McManus is Neurology Section Vice Chief of Medical Staff Executive Committee at Rady Children’s Hospital, ACGME Epilepsy Fellowship Associate Program Director at UCSD, Epilepsy Foundation San Diego Professional Advisory Board member, Rady Children’s Insitute for Genomic Medicine clinical investigator, and UCSD Altman Clinical and Translational Research Institute Scientific Review Board member.

Links: n-Lorem Candle and Card Fundraiser - https://www.nlorem.org/mothers-day-candle-2025/

Hongene - https://www.hongene.com/