Caring for People with Rare Diseases

In the early 2000s, Gail Ouellette was touched by the story of a family whose little girl suffered from a very rare bone disease. As a genetic counselor, her role was to educate people about diseases. In the case of this little girl, who had a disease with a complicated name, her research found very little information to give the family.

Throughout her years of practice, she learned that most people with a rare disease are alone in their struggle with access to very few resources, especially in French. She also realized that, in France, at that time, rare diseases were already recognized and a national plan was in development. She dreamed of achieving the same advances in Quebec.

Alone with their Diagnosis

Equipped with a deep understanding of what families need, ten years ago, Gail launched the Regroupement québécois des maladies orphelines (RQMO). The organization’s mission is to inform and support families, which they do through their iRARE Centre. They raise awareness about rare diseases and advocate for Quebec and Canada to implement a national plan for rare diseases.

The Only Industrialized Country Without a Plan

Canada still does not have a national strategy for rare diseases. As a result, many patients and caregivers do not have adequate information about their rare disease, and they must endure delays in diagnosis, suboptimal care, no access to treatments, and hardships in obtaining social services. Canada needs to adopt a national strategy and call upon the provinces to adapt their respective health systems to respond to unmet needs of people with rare diseases. All provinces should collaborate to share knowledge, resources, and expertise to better serve this population of patients.

“It is sad to know that Canada is the only industrialized country that does not have a plan for rare diseases in 2020.” – Gail Ouellette, President, RQMO


A national plan would recognize rare diseases as a category of disease with specific needs in the health system. It would stimulate research, development, and access to new therapies. Diagnostic delays and quality of care would improve.

Help us by advocating for a national strategy for rare diseases.