The Portail Québécois des Maladies Génétiques Orphelines (PQMGO) seeks more services for patients with rare diseases
Leap day is the International Day for Rare Diseases
Mediterranean fever, Cat's Eyes disease, Charcot-Marie-Tooth disease - these are just a few of some 8000 known rare diseases. It is estimated that up to 10% of Canadians have a rare disease or about 700,000 Quebec children and adults.
Today, leap day, a rare day, the Portail Québécois des Maladies Génétiques Orphelines (PQMGO) in partnership with The Montreal Children's Hospital (MCH) of the MUHC urges the Government of Quebec to improve services for patients with rare diseases. Although few people have any one particular rare disease, collectively there are many who face similar problems because of the health system's lack of information, knowledge, and awareness of these diseases.
A rare disease is defined as a disease that touches less than one in 2000 people. Because about 80% of rare diseases have a genetic cause many rare diseases are chronic, progressive, degenerative and fatal. About 75% of these diseases afflict children. Other causes of rare diseases are infections, poisonings, allergies, etc. In many cases, the origin of these disease remains unknown.
“For common ailments, in example diabetes, diagnostic testing, clinical care and pharmacological care are routine. Treating a rare disease is much more difficult. Health care professionals have to go out of their way to find information, the proper diagnostic tests, management protocols and treatments,“ says Dr. Gail Ouellette, Ph.D, Director of the PQMGO and a genetic counsellor. “The unusual signs and symptoms of a rare disease are like pieces of a puzzle and it takes time to understand and put it all together. With their workload, physicians often don't have the time to do the necessary research. Also, patients with rare disorders have special needs and health professionals don't have the necessary information or resources to deal with these.”
The PQMGO and the MCH encourages Quebec to accelerate the implementation of its 2004 action plan entitled L'organisation des services de génétique au Québec (part of the report is in your press kit). This excellent report outlines over 30 action steps required to rejuvenate genetic services in Quebec including the merger of clinical services and of laboratory services, training genetic counsellors and laboratory personnel, improving genetic testing and prevention.
“We are encouraged because the government is moving forward with the planned reorganization of genetic services in Quebec and thus is helping people with rare diseases. For example “une table de concertation des réseaux universitaires integers de santé (RUIS) en génétique a été mise en place et débuté l'inventaire des services de génétique disponibles au Québec en 2007.In addition, the Quebec Ministry of Health has requested the « Conseil du Médicament » to address the difficult subject of expensive orphan medications and come up with appropriate recommendation to the minister without delay.” says Dr. Serge Melançon, director of the MUHC-MCH Biochemical Genetics Services. “But we need to move faster if Quebec is to maintain its status as a world leader in genetic research and clinical genetics. Quebec is on the verge of losing this prestigious designation.”
In 2001-2003, Quebec spent $13.5 billion on genetic testing or about $1.82 per resident. In comparison, Ontario spent $41,4 billion or about $3.49 per resident. Today, simple tests can be performed to detect more than 40 different rare diseases in newborns and therefore begin treatment before symptoms appear. In Quebec, we only test for 12 serious diseases, compared yo Ontario which tests for 29 diseases.
Dr. Ouellette also invites all organizations, patient groups and foundations representing various rare diseases to join forces with the Portail Québécois des Maladies Génétiques Orphelines. ”Each group is an invaluable resource for their specific disease,” says Dr. Ouellette, “but by working together we can solve the common problems of all rare disease patients.” She envisions creating a Rare Disease Resource Centre or website. Patients and health professionals would be able to find out rapidly if there are patient support groups, specialized centres, research projects, genetic testing, preventive measures, therapies, or clinical trials within the province, the country or the world.
- The MCH ER is the busiest children's Emergency Room in Canada.
- The MCH has three neurosurgeons, more than any other Children's Hospital in Canada.
Dr. Gail Ouellette, Ph.D, Director of the PQMGO and a genetic counselor
Dr. Serge Melançon, M.D., Medical geneticist at The Montreal Children's Hospital, MUHC
Mrs Geneviève Poulin, and her two children who have Morquio disease
M. Yves Leblond, a patient with Pompe disease