A Saguenay-region man who lost two children to a rare genetic disease is promoting a screening test the province is now offering for free to people in his area who want to become parents.
One in five people in the Saguenay-Lac-St-Jean region of Quebec are estimated to carry a recessive genetic mutation for rare and fatal diseases.
If both parents carry the recessive gene, their children are at greater risk of having the disease.
Pierre Lavoie's children died after developing lactic acidosis. He is applauding the Quebec government for making the test more widely available.
"It's a historic moment for us," said Lavoie whose children, a 4 year-old and a 20-month-old, died before the genetic mutation linked to their illnesses was identified.
He held three 24-hour bicyle-riding fundraisers to collect money for research into lactic acidosis.
Now the genetic mutation linked to it can be detected with a simple blood test – something Lavoie said will make it possible for prospective parents to be aware of their choices. Public health officials in the region said the test will only be done after people who are interested in it receive genetic counselling to discuss all their options.
"It's about giving people neutral messages don't include biases that might influence individual choices," Donald Aubin, the director of public health official for the Saguenay-Lac-Saint-Jean region.
The testing is part of a $1-million pilot project but the province's health minister, Yves Bolduc, has already said it will likely become permanent.
Bolduc said he's aware that some people are opposed the idea of a test that might lead some woman to choose an abortion.