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Her lab is now working on the development of the first gene replacement therapy approach for the disease, “but it is the very beginning,” she said.įor 16-year-old Xavier Barthe - seen with parents Émilie Lapointe and François Barthe - having 4H leukodystrophy means facing considerable limitations. “It is a very real and important milestone.” “If the mouse is really sick and you start to test treatments, you will see a difference,” said Bernard, associate professor in the departments of neurology and neurosurgery and pediatrics at McGill University. The model displays the main features associated with the disease, as seen in patients. The parents are healthy, but each carries one defective copy of the responsible gene.ĤH leukodystrophy is the combination of more than one factor: a myelin deficiency leading to motor, balance and co-ordination problems and a deterioration in physical condition dental anomalies and endocrine dysfunction leading to delayed or arrested puberty or an absence of puberty. It is inherited, with parents passing the genes to their children. Families often feel terribly isolated, she said. Like 4H leukodystrophy, they are often progressive and mainly affect children, and have limited or no treatment options.ĤH leukodystrophy is rare, but the burden on patients, families and the health-care system is enormous, said Bernard, who is recognized as a world expert in leukodystrophies. “Rare diseases are often overlooked because individually they are rare - but together they are not,” she said.Ĭollectively, rare diseases affect about three million people in Canada, including 500,000 in Quebec.

September is Leukodystrophy Awareness Month, and Bernard sees it as “a very good opportunity to sensitize people to rare diseases.”

“I think false hope is worse than no hope,” she said. “The idea is to find a cure, so if we don’t have a good model, we can’t test treatments,” she said in an interview.īernard won’t put a timeline on when treatment could become available. It is considered a crucial step in the development of treatments, said Bernard, a scientist in the Child Health and Human Development Program at the RI-MUHC and a neurologist at the Montreal Children’s Hospital.

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