Quebec will unveil its policy on rare diseases

Nearly five years after calling for a government strategy for Quebecers struggling with a rare disease, the Coalition avenir Québec (CAQ) will present its own policy on Monday on these poorly understood diseases that affect 700,000 patients in the province.

Ariane Kroll
The Press

“It’s a big first step in the right direction,” said MP Marilyne Picard, parliamentary assistant to the Minister of Health and Social Services, in a telephone interview.

A disease is qualified as rare when it affects less than one person in 2,000. These nonetheless affect nearly 700,000 Quebecers, approximately half of whom are children. Cystic fibrosis, types of muscular dystrophy and hemophilia, in particular, are among the rare diseases.

M’s daughter^me Picard, Dylane, is herself suffering from a genetic disease so rare that it does not bear a name. 10-year-old Dylane does not talk, walk or feed herself. The chromosome in question was however identified in the first six months of the girl’s life. “We were really lucky,” said the MP for Soulanges, alluding to the “diagnostic wanderings” that many patients must undergo before succeeding in putting a name to their disease.

Two of the axes of the Quebec policy for rare diseases partly respond to this problem, by aiming to improve the training of doctors and health professionals, and by improving screening and diagnosis.

“We must show solidarity and offer an adequate response to people’s needs. This is why the implementation of this policy is very important to us”, underlines the Minister of Health and Social Services, Christian Dubé, in the introduction of his policy..

Access and information

Quebecers living far from major centers “experience additional challenges”, because this remoteness “significantly contributes to reducing access to certain services and to increasing the delays in taking charge of a disease that is not diagnosed, and therefore unknown”, recognizes the document of about forty pages consulted by The Press.

“Better informing and training doctors and other healthcare professionals about rare diseases” was one of the three priorities most often cited by patients, parents and caregivers surveyed by the Regroupement québécois des Maladies Orphanes (RQMO) during the its founding in 2010. Promoting and supporting research, as well as improving access to medicines and treatments, were also top priorities.

The sums reserved for the financing of the policy do not, however, appear in the document published on Monday. They will rather be found in the action plan, expected by the end of 2022, we say in Quebec.

In June 2017, it was Caquiste MP François Paradis, then spokesperson for the second opposition group in terms of health and social services, who called for a “Quebec strategy on rare diseases” alongside the RQMO. MP Paradis then criticized the Liberal government for commissioning a report on rare diseases and then leaving it “on the shelf”.

In February 2020, Mr.^me Picard had announced the creation of an Advisory Committee on rare diseases.

A Quebec working group on rare diseases created at the end of 2018 recommended in particular that the Fonds de recherche du Québec – Santé (FRQS) and Génome Québec devote 8% of their research budgets to rare diseases, “equivalent to the percentage of people with a rare disease” in Quebec.