In March, a group of families descended on Ottawa intent on making their voices heard at Parliament Hill. They were there to raise awareness about spinal muscular atrophy (SMA), a rare and fatal neuromuscular disorder in which motor neurons progressively deteriorate, and to make clear their frustration that Canada is not expediting access to the new and long-awaited treatment for the disease.

At the head of this demonstration was Susi Vander Wyk, Executive Director of Cure SMA Canada, our nation’s largest SMA advocacy organization. Vander Wyk remembers very well what it was like when her daughter Holli was diagnosed with SMA. “It became clear early on that Holli was unable to do things her older brother had been able to do,” Vander Wyk says. “She did eventually gain the ability to crawl, but then she got the flu and lost that ability. That’s when we really got frightened, and started bringing her in for all these tests, until one day the neurologist sat me down and said: ‘It’s very serious. Holli has a disease called spinal muscular atrophy. She won’t be able to walk and she probably won’t live to see the age of eight.’ It was a terrifying time. I didn’t know a human could cry so much.”

Susi Vander Wyk, photographed at her office in Chilliwack, B.C.  (Contributed)

A treatment families have been waiting decades for
Vander Wyk says that her fear, anger, and sadness soon hardened into determination. She began advocating and fundraising for SMA research, work which led to her joining the board of Cure SMA Canada and eventually taking over its reins. Throughout this time, the primary focus was always on the development of effective treatments for SMA, as none existed. That all changed last year, when the first-ever treatment for SMA was approved by Health Canada. However, what should have been a time for celebration was quickly overshadowed by uncertainty. As with most innovative therapies that treat rare diseases, the new treatment’s cost puts it out of reach for most families. Unfortunately not one province has yet taken the step of covering it under their public health care plan.

Holli is now 21 years old, having so far survived 13 years longer than her doctors predicted. She’s attending university with the intention of becoming an elementary school teacher, but the future she’s planning for is entirely dependent upon gaining access to treatment. “After 21 years of fighting, hoping, preparing, and waiting, a treatment has finally arrived,” says Vander Wyk. “But we can’t access it. It’s just…”

She trails off because there is no word to describe what she feels as a parent of a child with SMA. And it’s a feeling of passion and urgency shared by many families across Canada. Sammy Cavallaro of Quebec is another SMA survivor, also currently attending college, but as his disease progresses, he’s slowly losing motor function that he will never regain. Without treatment, he will eventually lose the ability to breathe. “It’s critical that this drug be available yesterday,” says Sammy’s father, Aniello. “At what point do you put a price on somebody’s life? How can you say this is too much money but that is not? Especially when you have countries that are much poorer than Canada finding a way to get on board.”

Canada’s failing grade on rare diseases
There are now 37 countries* around the world that are funding this treatment, and many feel that it goes against our national identity and values that Canada is not among them. “We sit now at a poignant time,” says Alex Mackenzie, Senior Scientist at the Children’s Hospital of Eastern Ontario (CHEO). “Canada is unfortunately trailing much of the developed world in approval of and access to life-altering and life-saving SMA therapy. Lives are being shortened and lost because of the access hurdle we’re sitting at right now.”

For young adults like Holli and Sammy who are looking hopefully toward the future, and for the new families who are still in the early days of their SMA journey, every day matters. That’s why so many people came together on Parliament Hill in March, and that’s why the lack of government action in the months since is so frustrating.

These families aren’t going to stop the fight, though. They’ll be making their voices heard next month on the streets in Winnipeg, and then again and again wherever and whenever they need to until Canadian children and young adults stop dying from this treatable disease.

*As of publication on June 29, 2018.