The Portail Québécois des Maladies Génétiques Orphelines (PQMGO) urges
for more services for patients with rare diseases
MONTREAL, Feb. 27 /CNW Telbec/ - 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
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 29 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.
For further information:
For further information: Lisa Dutton, Manager, Public Relations and
Communications, The Montreal Children's Hospital of the MUHC, (514) 412-4307,