Saturday’s march attracted dozens and sought to bring attention to the 500,000 Quebecers who live with a rare disease, defined as one that affects fewer than one in 2,000 people. Most are chronic and many are degenerative and even deadly.
March organizer Gail Ouellette said there are about 7,000 diagnosed rare or “orphan” diseases and that health care in Canada is lagging far behind Europe and the United States when it comes to research and treatment.
“Delays in diagnosis, no information on the disease, most of the time there's no treatment, there's sometimes poor management,” she said.
For rare disease sufferers like Rosemary Tiklé, the situation is intolerable.
Tiklé suffers from idiopathic angiodema, a disease that causes swelling in her lips, tongue, throat and esophagus.
“You feel like you have a volcano in your body that just wants to explode from heat,” she said.
The illness provoked daily, debilitating attacks that forced her to quit a good job in the pharmaceutical industry.
The need for awareness and improved access to care for rare diseases is vital, she said.
“No one understands you, because they don't know about it, and if they see you smiling, right away it's like there's nothing wrong,” she said.
Treatment for adults is considered especially problematic. Whereas children suffering from a rare disease are often diagnosed early and have access to multidisciplinary care, such services are generally not available to adults with a rare disease.
“The adult environment, or adult hospitals, are not well equipped to receive those patients or take care of them because there's no experience or multidisciplinary team oriented to take care of these specific rare diseases,” said Dr. Yves Berthiaume, executive director of the IRCM, Montreal’s clinical research institute.
In 2010, Quebec’s health minister Yves Bolduc promised to correct this situation with more funding for research and better access to care. However, Berthiaume said those changes have either not taken place or have not had the intended effect.
“If there's been a change, it has not been an extraordinary or overwhelming change,” he said.