The face of orphan illnesses; Quebec urged to provide better services to people with rare genetic diseases
The Gazette (Montreal)
Fri 29 Feb 2008
Page: A8
Section: News
Byline: CHARLIE FIDELMAN
Source: The Gazette
By the time she was 7 years old, Mélissa Bilodeau had undergone two surgeries to put her femurs back in their sockets.
Both Mélissa, 14, and her 12-year-old brother Olivier have Morquio syndrome, caused by a defective gene that's inherited from each parent.
The defect causes abnormal bone development. There is no treatment and no cure. Both Laval children use wheelchairs.
The degenerative genetic disorder is so rare that doctors lumped it in with other rarities - "orphan diseases," so called, because they get little funding or attention from researchers.
Quebec has the largest number of Morquio cases, 50 out of 300 worldwide.
It's one of nearly 8,000 rare diseases affecting 10 per cent of the population including a significant number of Quebec adults and children.
Today, a Quebec association headed by geneticist Gail Ouellette, will hold a news conference in Montreal to urge Quebec to reorganize services for people with rare genetic disorders according to plan approved nearly four years ago.
An estimated 700,000 people in Quebec have an "orphan disease," said Ouellette of the Portail Québécois des Maladies Génétiques Orphelines (PQMGO), which functions like a virtual resource centre on the Internet.
Ouellette's association joined patients and parents' groups in Ottawa yesterday to lobby politicians for more screening tests, funding for experimental therapies and drugs "for the orphans in our system."
Rare genetic diseases are often chronic, degenerative and fatal.
Doctors often fail to recognize symptoms of rare diseases, which causes delays in diagnosis and treatment, said Ouellette, also a part-time professor at Bishops University.
But even with a diagnosis, treatment options are slim.
"Pharmaceutical companies don't adopt these diseases because they affect so few people that it's not worth their investments," she said. "Often, there's only one drug available and often governments don't want to pay (for rare, expensive drugs)."
Desperate parents then go to the media, she said.
About 80 per cent of rare diseases are genetic in origin. Many remain unknown.
But Quebec is lagging behind other provinces in automatically screening newborns for inherited diseases so treatment can begin early.
Babies should be tested for deafness, cystic fibrosis and metabolic and blood disorders such as sickle cell anemia and thalassemia. Hearing impairement is linked to many disorders, she explained.
"When we screen for these we can put babies on a diet and prevent serious illness and mental retardation," Ouellette said.
Mélissa was 9 months old when her mother found an odd bulge in her back. But there was no diagnosis until Mélissa was 5. "I had time to have another baby," said a bitter Geneviève Poulin.
Mélissa spent months in a body cast after the hip operations. Olivier had that surgery last year. Mélissa also needed to have her neck bones fused and wore a brace for six months.
"Everything is a double the effort for me," Mélissa said. "I'd like to be like my friends and be able to walk without getting tired."
For information on the Internet: www.pqmgo.com/
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