Connor Dalby was born with an SCN2A ion channel mutation causing severe epilepsy and eventually leading to hospice care at an early age.
It was a chance hallway conversation between Connor’s mom and Dr. Stan Crooke at a conference that sparked the idea for what would become n-Lorem. In a full-circle moment, Connor went on to become the very first patient applied to and accepted by the foundation, giving him the designation 'Patient #0...
Connor Dalby was born with an SCN2A ion channel mutation causing severe epilepsy and eventually leading to hospice care at an early age.
It was a chance hallway conversation between Connor’s mom and Dr. Stan Crooke at a conference that sparked the idea for what would become n-Lorem. In a full-circle moment, Connor went on to become the very first patient applied to and accepted by the foundation, giving him the designation 'Patient #001'.
In March 2024, Connor received his personalized ASO medicine, and while Dr. Olivia Kim-McManus of Rady Children’s Hospital continues to fine-tune the optimal dose and schedule for the best and longest-lasting effects, Connor has, for the first time, taken steps on his own and experienced periods without seizures. Discover all of what has been observed in Connor since being treated in this episode of the Patient Empowerment Program podcast!
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/
