According to a story from macleans.ca, eight-year-old Mason Stewart has been dealing with the effects of spinal muscular atrophy since he began to walk; he developed an unusual walking gait and began to demonstrate other symptoms that prompted his parents to seek professional guidance. He was not quite two years old when he was first diagnosed. While there are effective treatments available, Mason has been stuck waiting for approval from the Canadian health system.
Spinal muscular atrophy (SMA) is a disease characterized by the death of motor neurons and progressive wasting of muscles. This condition is caused by a genetic mutation and can vary widely in its severity. Thankfully, Mason is not dealing with most severe form of the condition, in which symptoms start even earlier and are often fatal. Symptoms can include loss of reflexes, poor muscle tone and weakness, problems standing, sitting, or walking (or developing an unusual posture in order to do so), and breathing issues. While most treatment in the past had involved supportive care, a new gene therapy treatment was recently made available. It is this treatment that Mason has been stuck waiting for. To learn more about spinal muscular atrophy, click here.
The drug nusinersen was the first treatment officially approved specifically for spinal muscular atrophy. The treatment works by converting copies of SMN2 gene into working examples of the SMN1 gene– the gene which fails to function normally in people with SMA.
Nusinersen is one of the most expensive drugs in the world. A single dosage costs $125,000. Canada’s federal government approved the treatment, however Common Drug Review only approved reimbursement for a very small group of patients with SMA. While Mason was able to finally access the treatment through a private insurance company, most Canadians affected by SMA aren’t able to receive it.
Before the drug’s approval, Mason’s family was convinced that they would have to witness a slow but steady decline in the boy’s condition. His parents have become friends with another family affected by SMA from Texas. Their daughter, Kadence, was also diagnosed with SMA.
After a battle with insurance, Kadence has been receiving treatment for about a year. Now, she can climb stairs and ride a bike with ease. The Canadian health system ultimately approved the treatment in June 2017, but Mason was only able to start treatment this past January. This is because the entities responsible for reimbursing on the drug’s heavy price tag were slow and reluctant to cover it.
Now, the Stewart family is looking forward to hopefully seeing Mason’s movement ability improve, or stop deteriorating. However, it is important to be aware of the difficulty of being forced to wait for treatment. Many drugs that treat rare diseases carry a heavy price tag just like nusinersen, and the great expense can often slow down the approval process on the part of insurers and health systems. Hopefully, the price of new treatment will be less of a problem in the future.
Susi Vander Wyk, Executive Director of Cure SMA Canada, the national charity supporting Canadians affected by SMA states “The Canadian SMA community is devastated and appalled that Canadians with rare disease have a price tag on their heads. Our patient’s lives have value and the clock is ticking. As it ticks, we lose abilities and lives. Why would the government hold back the only treatment available for SMA?”
If you would like to learn more about the fight for SMA treatments in Canada, check out the leading organization, Cure SMA Canada here. The Stewarts are members of Cure SMA Canada, which advocates for patients and families affected by this rare condition.
