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My work as a clinical geneticist and scientist at CHEO is very rewarding. My medical specialty allows me to provide care and support to families with children who have a rare disease. Many of the families I work with have the same question, “what is wrong with my child?” Being able to name a child’s condition often brings some peace and a chance to better understand how to help. My life’s work is to provide these families with answers, and I am part of a dedicated research team committed to understanding the genetic cause of rare diseases and offering a clear diagnosis for countless families. 

In Canada, one million people are living with a rare genetic disease. These diseases, which impact mostly children, are utterly devastating: two out of three children affected have a severe disability and one-third will die before their fifth birthday. Rare diseases are poorly understood, so families can spend decades trying to find out what is happening to their child. It’s my goal to help as many families as I can to get a diagnosis. Why? Because a diagnosis translates into better treatment plans and can also help families find a community of people experiencing the same challenges. 

That’s why your support is vital to the work that my team and I are doing every day. Click here to learn more.

One of my patient families beautifully describes rare disease, saying that “being rare is lonely.”  Some feel lost in a world of medical appointments, wrong diagnoses and ineffective treatments. I want to change that and provide a diagnosis for all these children, but we need your help. 

The good news is that we are making huge strides. My research program is a world-leader in using genomic sequencing (decoding a person’s DNA) to diagnose rare disease. We have studied more than 5,000 patients and families from around the world and provided a diagnosis for 1,500 patients while discovering 125 new rare disease genes! It’s truly life-changing work. 

Our CHEO success story has provided a diagnosis for 40 percent of the families with rare disease participating in our research program. To me, 40 percent is not enough and this is where you come in. With your support I want to help the remaining 60 percent by testing new approaches that can provide a diagnosis for even more children and families. We are also working towards providing easier and quicker access to genomic sequencing for families with rare disease.

For rare disease, diagnosis translates into better care. With an accurate diagnosis, families get answers. This brings an end to years of searching for answers and a halt to unnecessary testing. It means better care by guiding treatments and screening. It helps to direct care coordination and family planning. As you can imagine, it provides emotional relief and closure for parents, knowing they have done everything they can for their child. It also brings access to social support which can drastically change a family’s day-to-day life. 

Ground-breaking work is happening right here at CHEO and with your help I want to continue to make discoveries to improve the lives of my patients and patients across Canada and around the world. 

Sincerely,

Kym Boycott MD, PhD, FRCPC, FCCMG 
Clinical Geneticist, Department of Genetics, 
CHEO
Senior Scientist, CHEO Research Institute
Mother of two

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