The CAQ government is launching its action plan for rare diseases on Monday, in particular with the possible deployment of a platform that will assist health specialists in order to better treat known patients and those who are still seeking a diagnosis.
This platform, named Navi-Nat, is a first in Canada and will essentially make it possible to establish a link between the various reference centers or regional centers of expertise, and with patients suffering from a rare disease, whether diagnosed or No. Its deployment is scheduled for the year 2023-24.
A network of experts, such as genetic counsellors, will be integrated into this platform. This will therefore serve as a “one-stop shop” for health specialists who need greater expertise and will thus contribute to reducing diagnostic error, which represents one of the major challenges before arriving at a decision charge.
The deployment of this platform will be accompanied by training and awareness-raising for health specialists, in order to encourage them to use the new tool, indicated the Ministry of Health (MSSS).
The action plan is divided into three axes and will be in place until 2027. Reference centers for patients will also be set up, where regions will be prioritized, while some have rare diseases of their own . The plan also provides for better access to preimplantation genetic testing for people with genetic diseases.
Finally, a Quebec registry of patients with rare diseases will be set up. This tool will allow in particular a better sharing of knowledge and the integration of clinical trials.
Patient partners
This action plan was particularly awaited by the parliamentary assistant to the Minister for Health and Seniors, Marilyne Picard. Her 11-year-old daughter Dylane suffers from a condition so rare it doesn’t yet have a name.
“It is a chromosome number, which is 1Q43Q44, specifies Mme Picard. There are about three cases in Quebec and about thirty in the world”.
“She can’t walk, she doesn’t talk, she doesn’t eat, [elle reçoit] a force-feeding.
But it is she who makes the most beautiful smiles in the world,” she adds.
Mme Picard is particularly delighted with a section of the plan which will allow for the collaboration of “patient partners”, who will be able to share in particular the way in which they manage to improve their state of health.
“There is a diet that is truly miraculous for my daughter and has changed her life. It’s the ketogenic diet, she says. Children who have the same disease will be able to learn that this diet has brought changes in his life, ”she cites as an example.