A family in Chicoutimi is appealing for help to raise $2.8 million to pay for a drug that could allow their eight-month-old son to enjoy a better quality of life.
Nathan Ouellet was six weeks old when his parents became concerned that he wasn’t as active as his twin brother, Jake. Nathan was diagnosed with Type 1 spinal muscular atrophy, a rare disorder caused by a defective gene. The degenerative illness, which affects one in 30,000, destroys the nerves that control muscles. Children with the most severe form of the disorder typically don’t live past their second birthday.
“It’s important that we get help as quickly as possible,” said Agathe Audet, Nathan’s grandmother.
The family set up a GoFundMe page and had raised more than $400,000 by mid-afternoon Thursday — still well short of the money needed for treatment with a newly developed drug called Zolgensma.
There is no cure for SMA, but certain drugs can slow the progression of the disease.
“After we learned the diagnosis, the doctors started treating him with Spinraza, which helped him regain some movement, and then we learned about Zolgensma,” said Audet.
Zolgensma is a one-time intravenous treatment in which genetically modified viruses carry healthy copies of the defective gene. In April 2019, the FDA approved Zolgensma, making it only the second gene therapy approved for a genetic disorder. There are around 700 patients eligible for the treatment, and roughly 30 babies are born each month with the disease.
“We follow children all over the world who have had this treatment, and when they are treated at a very young age and before the onset of symptoms, they develop almost normally,” Nathan’s father, Marc-André Ouellet, told La Presse.
While Nathan is a candidate for treatment with Zolgensma, there are hurdles to overcome.
For starters, the drug has not been approved for use in Canada. A doctor in Quebec City has agreed to treat Nathan as part of a clinical trial, but obtaining the drug is another matter. It is in short supply and is doled out using a lottery system.
Then there’s the cost. When AveXis, a subsidiary of pharmaceutical giant Novartis, put the drug on the market last spring, it set the price at US$2.125 million, making it the most expensive drug in the world.
The price tag set off a controversy south of the border. The National Institutes of Health and several non-profits contributed to the cost of developing the drug, but none of the funding agreements contained a reasonable cost clause.
To donate to the fundraiser for Nathan Ouellet, see ca.gofundme.com/f/realiser-l039impossible-avec-nathan .
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