My CHEO Story
We are a family of 5 – our oldest son Owen is healthy and happy. Soon after our daughter Alyssa was born, we noticed she wasn’t meeting her developmental milestones. Approximately 3 years later, she was diagnosed with Methylmalonic Semialdehyde Dehydrogenase Deficiency through the genetics/metabolic team at CHEO. We are grateful that we were able to receive a diagnosis. Later, our youngest son Connor was born. There was a 1 in 4 chance that Connor could be affected with the same disease. Connor is a carrier of the disease but is not affected by it. We are truly grateful to CHEO for their support and for all the services that they provide for our daughter.
Areas of Interest
- Genetics
Why I'm involved
I’m interested in being involved with relevant research projects so that I can give back to CHEO-RI. Also, I’d like to help other families that are experiencing some of the same things that my family has.
My Role
- Research Reviewer
Milestones
