My CHEO Story
When she was 3, our daughter Abby had an MRI that showed a scraggly cerebellum-a test result that explained why she was missing speech, coordination, motor and balance milestones, but didn’t give us an actual diagnosis. Since then, our diagnostic and therapeutic journey has taken us through a variety of CHEO clinics and services, including neurology, ENT, opthalmology, OCTC, metabolics, orthopaedics, blood clinics, rehab, school, metabolic and rare disease genetics. In 2016, the Care4Rare program discovered that Abby has an ultra rare gene mutation on a gene called TNR — we currently don’t know of a single other person in the world who has exactly what Abby has. This mutation has caused degeneration of the cerebellum, and issues with her nerves. While we still see several different clinics at CHEO, we most often see neurology and genetics. We’re working closely with Dr. Boycott to learn more about Abby’s disease, and there is currently a colony of Abby mice being studied in Montreal to try to learn more about it. In the meantime, our experiences with CHEO have led me personally to get involved with a number of CHEO committees/projects, including the Family Advisory Council, Master Planning Steering Committee, Engagement Framework Steering Committee, Family Faculty, OCTC School Authority Board of Directors, Patient Partner and of course the CHEO RI Family Leader program.
Why I'm involved
I think research is vitally important, and the movement toward true patient-oriented research is very exciting. I believe that engaging with patients and families at every step is critical to enhancing outcomes for patients, and will result in more fulfilling research for researchers and their teams. While I’m especially interested in research that supports my daughter and her rare disease journey, I also think that we all have a responsibility to contribute to society where we can, and I hope that some of my own efforts will help other families on their journeys.
- Provided feedback to Health Quality Ontario on Whole Exome Sequencing
- Research Project Reviewer: Development of an Oral Reovirus-Based Vaccination Platform for COVID-19
- Research Project Reviewer: Impacts of the COVID-19 pandemic on Canadian youth who live with chronic pain and their families: A mixed method study
- Research Project Reviewer: Post-operative medication use and pain levels in adolescent idiopathic scoliosis patients undergoing posterior spinal fusion surgery compared to vertebral body tethering