My CHEO Story
My story begins on Mother’s Day 2014 when my then 6 month old son had an unprovoked seizure. After 10 long months of seizures we finally got a diagnosis. My son, Nico, carries a SCN8A mutation. An ultra rare genetic mutation that causes severe epilepsy that is hard to treat. There is currently no effective treatment, and the disorder will affect him throughout his life. Due to advances in genetic testing more patients are being discovered all the time, but there are still less than 350 cases known worldwide. Thanks to gene guided medication Nico is seizure free. Not only does Nico have a SCN8A mutation, but he also has an Autism Diagnosis and Anaphylactic food allergies.
Areas of Interest
- Genetics
- Rare Disease
- Allergic Reactions
Why I'm involved
After years of caring for my son with epilepsy he is finally well enough that I can help others. I have the time, the knowledge, the experience, and the capacity to help.
My Role
- PFAC 2021-2023
- Research Reviewer
- Research Advisory – Rehabilitation and Development
- Graduate of Holland Bloorview Family as Faculty https://hollandbloorview.ca/stories-news-events/stories/family-faculty-lead-way-holland-bloorview-and-beyond
Milestones
