The Portail Québécois des Maladies Génétiques Orphelines (PQMGO) pushes for more services for patients with rare diseases
Have you ever heard of metachromatic leukodystrophy, Leopard syndrome, DiGeorge Syndrome? Me neither. They are rare diseases. Worldwide there are approximately 8000 known rare diseases. An estimated 10% of Canadians have a rare disease or about 700,000 Quebec children and adults.
On leap day – a rare day, the Portail Québecois des Maladies Génetiques Orphelines (PQMGO) and The Montreal Children’s Hospital of the MUHC will be holding a press conference to urge the Quebec Government to improve services for patients with rare disorders and accelerate implementing the 2004 report on the reorganization of genetic services in Quebec. Recognized as one of the world leader in genetic research and genetic testing. Quebec is threatened to lose this prestigious status and to fall further behind other provinces.
|WHEN:|| Friday February 29, 2008
|WHERE:|| The Montreal Children’s Hospital
2300 Tupper Street
Dr. Gail Ouellette, Ph.D, Director of the PQMGO and a genetic counsellor|
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
Mr Yves Leblond, a patient with Pompe disease
Various other adults and parents of children living with a rare disease will be present. They will talk about how long it often takes before they receive a diagnosis. How in some cases, they are told their symptoms are all in their head because the doctor isn’t aware of such rare diseases.
A rare disease is defined as a disease that touches fewer than 1 in 2000 people. Many rare diseases are chronic, progressive, degenerative and fatal. About 75% of these diseases afflict children. About 80% of rare diseases are genetic in nature, 20% are infectious. In many cases, the origin of the disease remains unknown.
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 to Ontario which tests for 2 diseases.
- 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.