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.
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
- Advisor – James Lind Alliance on Paediatric Hospital Care Priority Setting Partnership (PSP) 2020-2021
- Provided feedback on Patient-Oriented Child Health Curriculum-Usability Testing
- Patient and Family Advisory Committee Member and Co-Chair 2019-2021
- Med Real- Advisor/Presenter, Attended Ontario Child Health Support Unit Conference
- Presenter at CHEORI 2020 Strategic Plan
- Research Project Reviewer: Complex Care- Timmins Satefillie Complex Care Clinic Project
- Pediatric Hospital Care PSP Steering Committee member
- Recognition/Compensation Working Group Committee Member
- Research Project Reviewer: (HEalthy Lifestyles Project) for Youth with Mental Distress
- Research Project Reviewer: Remote digital auscultation between Iqaluit, Nunavut and Children’s Hospital of Eastern Ontario for improved telemedicine based patient assessment
- Research Project Reviewer: Movement and Play Behaviours Survey of the Early Years: Impact of the 2020 COVID-19 Outbreak
- Research Project Reviewer: Neuro-MRI during sleep in infants and children: Addressing COVID-19 pandemic associated limitations to MRI with anesthesia
- Research Project Reviewer: Transforming Health Information and Research Synthesis through Technology and Teamwork during the COVID-19 Pandemic: Development of Two Open-Access Databases
- Research Project Reviewer: Using Mental Health Apps to Prevent Worsening Mental Health Symptoms in Transition-Aged Adolescents with Epilepsy
- Research Project Reviewer: Implementation of Patient-Reported Outcome measures into the Pediatric non-Malignant Hematology Clinic
- Family Engagement in Research Course Complication- 2021
- Family As Faculty Course Complication- 2021
- Project Advisory- Babbly 2022-2023