February 28th is recognized as Rare Disease Day.

A rare disease is classified as a disease that affects fewer than 1 in 2000 people. Rare Disease Day raises awareness for the 300 million people living with rare disease around the world and their families. Deciding to find out if you have or are at risk for a rare disease can be an incredibly daunting experience, but thankfully there are specially trained professionals to guide patients along the journey.

Angela Krutish, MSc, is a genetic counsellor who is a part of the Mainstreaming Genomics in Manitoba (MGM) team, which operates under the expertise of CHRIM’s Dr. Cheryl Rockman-Greenberg. MGM aims to reduce the time required to obtain a diagnosis and the team also provides genetic counselling support and resources to care providers, as needed. As a genetic counsellor, Ms. Krutish combines her knowledge of clinical genetics and counselling skills to educate and support people making complex health decisions. 

Genetic counsellors have a wealth of knowledge when it comes to finding resources for people who may be diagnosed with a rare disease.

“It can be difficult to decide whether to undergo genetic testing for a rare disease. A genetic counsellor can help guide patients and their family members through these complex decisions. We help to translate complex medical information, provide guidance and support, and connect patients with resources they may not otherwise know exist.”

Angela Krutish, Genetic Counsellor and Project Manager for Mainstreaming Genomics in Manitoba (MGM)

As genetic testing is becoming more complex and comprehensive, more families with rare diseases are undergoing genetic testing with the hope of receiving a confirmatory genetic diagnosis. Families undergoing this testing need genetics professionals such as genetic counsellors and clinical geneticists to help understand and adapt to the medical, familial and psychosocial implications.

In 2024, CHRIM was proud to join the RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network. Multiple CHRIM researchers including Drs. Lisa Knisley, Lauren Kelly and Terry Klassen all serve as Investigators within the network as well as Co-Investigators Drs. Cheryl Rockman-Greenburg and Kelly Russell, and Ms. Lise Bourrier from the Research Support Unit within CHRIM. You can learn more about CHRIM’s involvement with RareKids-Can with this blog post.