Christine Dalgleish

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.

Areas of Interest

• Genetics
• Rare Disease