Friday, May 26, 2023

Rare diseases: Quebec unveils expected action plan

The CAQ government is launching its action plan for rare diseases on Monday, notably with the possible deployment of a platform that will help health experts to better treat known patients and those still seeking a diagnosis .

This platform, named Navi-Nat, is the first in Canada and essentially makes it possible to establish a link between different reference centers or regional centers of expertise and between patients suffering from a rare disease, whether diagnosed or not. Its deployment is scheduled for the year 2023-24.

A network of experts like genetic counselors will be integrated into this platform. Hence it will serve as a “one-stop shop” for health experts who require greater expertise and thus contribute to reducing diagnostic error, which is one of the major challenges before arriving at the decision fee. represents one of the

The Ministry of Health (MSSS) indicated that the deployment of this platform would be accompanied by training and awareness raising for health professionals, to encourage them to use the new tool.

The action plan has been divided into three axes and will be in force till 2027. Reference centers will also be set up for patients, with areas being prioritized, while some have their own rare diseases. The plan provides better access to preimplantation genetic testing for people with genetic diseases.

Finally, a Quebec registry of patients with rare diseases will be established. This tool will allow better exchange of knowledge and integration of clinical trials in particular.

patient companion

This action plan was particularly awaited by Parliamentary Assistant to the Minister for Health and Senior Marilyn Picard. Their 11-year-old daughter, Dylan, is suffering from a disease that does not yet have a name.

“This is a chromosome number, which is 1Q43Q44, specifies M.Me Picard. There are about three cases in Quebec and about thirty in the world.

“She can’t walk, she can’t talk, she can’t eat, [elle reçoit] A force-feeder.

But it is they who create the most beautiful smile in the world, ”she adds.

MMe Picard is particularly pleased with a part of the plan that will allow the collaboration of “patient partners,” who will be able to share specifically how they manage to improve their health conditions.

“There is one diet that has truly worked wonders for my daughter and that has changed her life. It is the ketogenic diet,” she says. “Children who have the same disease will find that this diet has changed their lives. are,” she cites as an example.

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