My CHEO Story
I was a “frequent flyer” in CHEO’s emergency department as a child, coming in with what seemed just like a really unlucky pattern of illnesses and injuries. As I got older, these symptoms became increasingly severe. At some points my joints were dislocating every other week, I was constantly nauseous, and my whole body seemed to be in endless pain. I saw countless specialists, who ran seemingly never tests until one day at the doctor’s I mentioned my legs felt like dead weight any time I was biking or out for a run, something I had always assumed was normal. He referred me to the neurology team at CHEO who ran an EMG (electromyogram) which came back abnormal. My blood was sent off for genetic testing, and after years of “inconclusive” tests, I figured this would be no different. That was until a few months later when everything hit a critical point.
I came in to CHEO with yet another dislocation and didn’t leave for another three months. My abdominal cramps, nausea, fever, and muscle pain weren’t just the product of a cold or flu, I was in complete kidney and liver failure. I spent two weeks in the PICU at CHEO but no one could figure out why I had become so sick, was it leukaemia? Bacterial? Had I been poisoned? Once again, every test was inconclusive. “Sometimes people just get better and we never know what made them so sick” were the words of one of my intensivists. That was until I got a call from my neurologist about a month later who had just received my genetic results, and thought he might have an explanation. I have a rare neuromuscular disease caused by an even rarer mutation, so far it’s only been found in my mother and I. A week after this I met with a genetic counsellor at CHEO who diagnosed me with a collagen disorder which at last explained my near constant dislocations. While there may be no cure for my conditions, knowing what they are allows me to be able to get proper treatment of my symptoms and allows me the freedom to pursue my goals.
Why I'm involved
Research is the backbone to every medical advancement that has ever been made, and without it I wouldn’t be here today. Whether it is the technology of dialysis machines, the protocols put in place to address paediatric concussions, or the development of novel drugs for the treatment of rare diseases. My passion for research stems both from scientific interest as well as from my desire to help those around me in any way possible. It is an honour to be involved in any capacity in such an important cause.
- Patient and Family Advisory Committee Member 2018-2019
- Patient and Family Advisory Committee Member 2019-2020
- Research Project Reviewer: Development of an Oral Reovirus-Based Vaccination Platform for COVID-19
- Patient and Family Advisory Committee Member 2020-present
- Research Project Reviewer: Identify Obstacles Faced by Children & Youth with Juvenile Idiopathic Arthritis (JIA) at School