Families fighting for ‘life-changing’ treatment for children with spinal muscular atrophy

Click to play video: 'Fighting for a cure in Quebec'
Fighting for a cure in Quebec
WATCH: Families of children afflicted with a devastating degenerative disease are lobbying the new Quebec government to make a life-saving drug more accessible. As Global's Felicia Parrillo explains, the drug is only available to those with the most severe form of the disease – Nov 7, 2018

Seven-year-old Madeleine Boursier has a condition called spinal muscular atrophy (SMA).

The disorder affects her nervous system, specifically the part that controls muscle movement.

Crawling and walking are just a few simple things that she cannot usually do.

But two years ago, that changed.

Seven-year-old Madeleine Boursier in Montreal on Wednesday, Nov. 7, 2018. David Sedell/Global News

READ MORE: ‘A price tag on kids’ lives’: Peterborough parents raise awareness of costly drug for daughter’s rare disease

Madeleine started a trial on a drug called Spinraza that her family says has been life-changing.

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“She regained the ability to crawl, she’s able to transfer from the couch to the wheelchair from the wheelchair to the couch and the bed,” said her mother Amélie Dionne-Marel.

Once the trial ends, Madeleine’s family would have to pay for the treatment which costs hundreds of thousands of dollars per year.

Spinraza has been approved by Health Canada and provinces have recently agreed to cover the treatment for those with Type 1.

But those like Madeleine, who have Type 2 and her twin sister, Constance, who has Type 3, are not eligible.

Spinraza carton and vial. Biogen

READ MORE: Calgary woman begging province to cover $63K-per-dose drug putting her parents in debt

It’s up to each province to decide if they want to cover Spinraza for patients with Type 2 and 3 under their own provincial health plan.

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“To hear that other countries are able to access it — 43 other countries — and have them improve their health, and not ours is concerning,” said Cure SMA executive director Susi Vander Wyk.

It’s much of the same for Sammy Cavallaro who suffers from Type 2.

He and his family have been fighting, searching and raising money for a cure since the 18-year-old was first diagnosed.

READ MORE: Defying the odds and climbing mountains to advance SMA research

“We finally get the medication — we think the money went to good use and now for some reason, they don’t want to give it to him,” said his father, Aniello Cavallaro.

WATCH BELOW: Sammy Cavallaro wants access to life-changing treatment

Click to play video: 'Sammy Cavallaro wants access to life-changing treatment'
Sammy Cavallaro wants access to life-changing treatment

Global News reached out to Quebec Health Minister Danielle McCann for comment on the issue.

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In a statement, she said that she’s waiting on a recommendation made by Quebec’s national institute of health and social service excellence (INESSS) regarding Spinraza and Type 2 and 3 patients.

The report, she says, should be published by the end of the year.

“It doesn’t make sense,” said Sammy’s mother, Rosa Mariani. “It’s there, it’s within our arms reach — it should be available.”

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