Children's Warns Quebec Falling Behind on Rare Diseases

The Montreal Children's Hospital has chosen this rare Leap-Day to draw attention to rare-diseases.

There are about 8-thousand known rare diseases in the world.. and 10-percent of Canadians are afflicted; 700-thousand of them, Quebecers.  The Children's and a organization that lobbies on behalf of orphan genetic-diseases (the Portail Quebecois des Maladies Genetiques Orphelines) are calling on the province to reorganize genetic services in Quebec (as recommended in a 2004 report). 

They warn Quebec is at risk of losing its prestigious status as a world leader in genetic research and genetic testing.  One frustrating problem encountered by people with rare diseases is being told their symptoms are all in their head because their doctor isn't aware of such rare diseases.  (A rare disease is defined as a disease that affects fewer than one-in-2-thousand people). 

Simple tests can be performed to detect more than 40 different rare diseases in newborns, allowing treatment to begin before symptoms appear.  In Quebec, testing is only done for 12 serious diseases compared to 29 in Ontario.