Provincial government to expand services for 700,000 Quebecers with rare diseases

The provincial government says it will broaden services for those suffering from rare diseases, a reality that affects an estimated 700,000 Quebecers.

The Health Ministry announced its new rare diseases policy on Monday, which aims to expand diagnostic services and treatments across the province, especially in remote areas.

It's welcome news for people like cyclist Pierre Lavoie, who lost two of his children to a rare disease called lactic acidosis.

"There was no funding," said Lavoie, who himself is the founder of Grand Defi Pierre Lavoie, a cycling fundraiser for lactic acidosis research.

At the time -- over two decades ago -- the condition was practically "unknown," he added.

Lavoie said the system failed to make any improvements in the four years between the deaths of his daughter and son, which occurred over two decades ago.

In his eyes, Monday's announcement is a much-needed step in the right direction.

Lavoie is from the Saguenay-Lac-Saint-Jean region, where there's a higher concentration of the disease, tied to the early French settlers who lived there.

About 80 per cent of rare diseases are genetic.

The Quebec government says it will provide genetic carrier testing for regions like Saguenay.

It also promised to focus on more isolated regions, such as remote Indigenous communities.

"I know the difficulties that such a situation entails, as well as the importance of improving access to services offered by the health and social services network to help people living with this reality," said Marilyn Picard, parliamentary assistant to the health minister, in a press release.

There are an estimated 5,000 to 9,000 documented rare diseases. They come in many forms, including auto-immune disorders, malformations, infections, and rare cancers.

The Quebec government has established an advisory committee and says an action plan will be developed over the next few months.