Denis Fiset, founder of Portal Quebecers Diseases Orphelines

The date of February 29 is for the first time declared International Day of rare diseases by the European Association for rare diseases. Initiative whose idea was imported into Canada by the Canadian Association of rare diseases. Denis Fiset, founder of Portal Quebecers Diseases Orphelines, took advantage of this day to hold a press conference in Quebec City to denounce the lack of support from the Government of Quebec, regarding these diseases. A rare disease, also called orphan disease, affects one person in 2000. 8000 cases have been reported around the world. These diseases are often chronic, progressive, degenerative and fatal. 80% of these diseases are genetic in origin. The others are caused by infectious agents or poisoning. 75% of them affect children. And it is estimated that 10% of Canadians suffer from an orphan disease, including 700000 Quebecers. Treatment According to Mr. Fiset, whose daughter died of the degenerative disease Tay-Sachs, rare diseases often go unrecognized health professionals. Given the lack of information sources, people living must sometimes wait years before getting a diagnosis and understand it. Thus, they suffer from a lack of specialist support, care and treatment. "We learned the diagnosis of Julien all crooked. We were appointed his illness and told us he was going to die when he was only two years, without giving us more information and a psychologist supports us. The doctor did not even know if there was another person with the disease in Quebec. We recommended to a rehabilitation centre and endpoint. We went white as sheets. Julien died three years later, "says Karine Bherer of Sainte-Marthe-sur-le-Lac, whose son was suffering from leukodystrophy, a degenerative disease of the nervous system. To counter this problem, it should demand more resources Denis Fiset. Canada is one of the only industrialized countries in not having a policy of application of rare diseases and orphan drugs. This would, however, the search for progress and to pharmaceutical companies to develop drugs. It exists only 300 drugs approved and marketed for the treatment of a rare disease. "Two years ago, I asked the Minister of Health and Social Services, Philippe Couillard, I describe the investment made in the search for rare diseases. He replied that there were none. In addition, there is insufficient staffing. There are only 24 geneticists in Quebec, even though 45 would need, "says Mr. Fiset. Financial Assistance In addition, several treatments are not covered by the basic prescription drug insurance in Quebec, because they are not on the list of medications. "That's when people pay. One can easily envisage expense 200000 $ 300000 for the treatment of orphan disease, "says Denis Fiset. One issue that also denounced Mrs. Bherer. "If you need equipment or medicines, virtually nothing is paid by the government or private insurance. You must therefore beat you to meet the needs of the mentally ill person, "says she. Moreover, in most cases, one parent has to sacrifice his job to care for her child. However, no financial assistance is not paid him. "The scrum suffering financial problems often lead separations. The average break-up of households cope with a rare disease is almost nine out of ten, "says Denis Fiset. "My husband had to eventually sell his business because we lacked money," says Karine Bherer. For Vermette Johanne Saint-Gervais, whose son is 12 years old suffering from leukodystrophy, luck smiled on him, but it could be otherwise. "We live from agriculture. Being self-employed, my husband and I continue to work managing work and support for our son. Otherwise, I would have left without jobs. But we had to pay all of its care. What has prevented our company to grow, "she says