Manitoba parents wait for potentially life-saving drug for kids with spinal muscular atrophy

As parents wait for the provincial government to approve coverage of a potentially life-saving drug, they're gathering Sunday to raise funds and awareness for a disease that leads to muscle failure, and often early death, for their kids.

Georgia's Journey of Hope is an annual walk in support of families whose children have been diagnosed with spinal muscular atrophy. The event — a fundraiser in memory of Georgia Lucas, who died of SMA when she was just five months old — has raised more than $150,000 since it started in 2013.

This year, Maylia Bodman of Niverville, Man., will participate along with her 20-month-old daughter Braelynn, who was diagnosed with SMA in April. 

"It can most closely be compared to a childhood version of ALS," said Bodman. "It affects their ability to use their muscles, and eventually affects their ability to breathe and swallow."

Bodman said she and her husband, Ryan, knew something was wrong when Braelyn stopped putting weight on her legs. Testing lead to the diagnosis of the genetic disorder when she was 15 months old. 

"Both parents have to be [genetic] carriers," said Bodman, "and usually they have no idea that they're carriers. There's no family history, usually, and you find out once your child is diagnosed."

Drug treatment recently approved

Braelynn has been diagnosed with Type 2, a less severe version than Type 1 of the disease, said Bodman. People with Type 1 rarely live past the age of two, but those with Type 2 can go on to live full lives.

"She is doing very well. She's just a very happy, bright, cheerful little girl who doesn't let anyone stop her, and that's why she's so special."

Still, it is likely that Braelynn will continue to lose muscular strength, will need a powered wheelchair eventually and may never walk — unless the provincial government decides to cover the expenses for a new treatment approved in June by Health Canada.

"The first-ever treatment for spinal muscular atrophy is [a drug] called Spinraza," said Bodman. "It's an injection that people with SMA can get. They have to get it ongoing, but it's an injection into their spine.

"The science behind it is complicated, but with spinal muscular atrophy, they have a mutated gene and that's the gene that makes us able to move our bodies. But there is what's called a backup gene, and this drug takes the backup gene and makes it act like the mutated gene [is supposed to act]."

Studies are promising, showing that the drug can stop the progression of the disease and even reverse the disease's affects in some children. "And the ones with Type 1, they're not succumbing to the disease. They're surviving," said Bodman.

What isn't promising is the price. 

We don't know the price yet in Canada, but in the United States, the first year of treatment would cost $750,000 US and then every year after that is $375,000.- Maylia Bodman

"We don't know the price yet in Canada, but in the United States, the first year of treatment would cost $750,000 US and then every year after that is $375,000."

An independent regulatory body reviews new drugs yearly in Canada and makes recommendations to provinces on what drugs they should cover. After that, provinces usually negotiate with drug makers on prices, said Bodman. 

So even though the drug to treat SMA is approved for use in Canada, its prohibitively high cost prevents access to it at the moment. 

"With Braelynn with Type 2, it's not as urgent but still, every moment counts."

Bodman said she and parents like her are praying the drug will be covered in Manitoba shortly. In the meantime, they are participating in the Georgia's Journey of Hope Run-Walk on Sunday to help raise funds and awareness about the disease. 

The event will take place at Island Lakes Community School Sunday at 9 a.m. and will go ahead rain or shine, said Bodman. Those who want to participate can register at the walk for $25.