When Susi Vander Wyk gave birth to her daughter Holly in 1996, the last thing the young mother imagined was that her baby would be diagnosed with the largest genetic killer of children under the age of two in the world: spinal muscular atrophy (SMA).
But that’s exactly what happened.
“Babies with SMA are born without looking any different,” Vander Wyk explained. “But they don’t meet their physical milestones with other babies do.”
SMA affects the motor neurons in the voluntary muscles that are used for moving, neck control, and swallowing. Considered a rare disease, approximately one in 6,000 babies are born with a version of SMA, of which there are four types ranging from most severe—type one is fatal and diagnosed shortly after birth—to adult onset (type four), which can result in loss of mobility.
So while the parents of most toddlers were watching their children explore the world around them, Vander Wyk was told by doctors to take Holly home and love her as long as possible because she may not reach adulthood.
“But I thought to myself, ‘No way is any disease going to be taking our daughter from us!’” which inspired Vander Wyk’s mission to end SMA, not just for Holly, but for all families suffering through a similar diagnosis.
Through the creation of the charity Families of SMA Canada, which is now called Cure SMA Canada, Vander Wyk began raising money and rallying behind promising research.
“A year ago, we received the wonderful news that the first treatment ever was approved in Canada federally,” said Vander Wyk.
“Spinraza is the first (treatment) that’s made it all the way to the market … which is very exciting but very frustrating,” said Vander Wyk during a telephone interview. “Which is worse: not having a treatment or having one that we can’t get?”
In Canada, once a drug has been approved for use, the Canadian Agency for Drugs and Technologies in Health (CADTH) makes reimbursement recommendations for federal, provincial, and territorial public drug plans. In the case of Spinraza, CADTH recommended against government reimbursement.
So since being federally approved for use in Canada, explained Vander Wyk, patients with SMA have been able to access treatment privately, however, “the question we need to ask ourselves is: should it be up to Canadians to source treatments through private insurance or their own pocketbooks” because of government bureaucratics?
Created by American-based Biogen, Spinraza comes with a hefty price tag—in the USA it’s an estimated $750,000 for the first year—as it’s a lifetime process: druing the first year, patients are given spinal “loading doses” of the medication, and they require additional doses every year after that.
Normally, treatment options “are out of the realm of possibility for most people with rare diseases because there are usually no other treatments. (With SMA,) it’s either get this treatment or the disease is going to progress (and the patient) will likely die at some point.”
For the past year, Vander Wyk has been traversing the countryside trying to convince politicians on the provincial and federal level that covering the cost of Spinraza not only benefits the patients, but the country.
“We have a small amount of patients—maybe 200 in all of Canada,” Vander Wyk explained. “They will cost less to the medical system once they get treatment even though the medication (is expensive).”
For example, “a type two, six-year-old SMA patient was hospitalized for 265 days” last year, Vander Wyk continued. “That’s ICU, intubated, and a lot of high-end professionals taking care of his needs … and it cost (our government) close to a million dollars in medical fees.
“How much could be saved on health care when these patients are not utilizing hospital beds like they (normally) are?”
At the end of the day, Vander Wyk says her goal is simple: “To see all patients affected by SMA receive treatment and improve the quality of their lives.” However, for that to happen, the year-long negotiations between the pan-Canadian Pharmaceutical Alliance (pCPA) would need to finally resolve, or the original CADTH recommendation needs to be overridden so treatment can be affordable and accessible across the country.
“I feel exhausted and deeply hurt,” said Vander Wyk. “How can Canada let down its own citizens? How can it leave children dying? We’re not a third world country.”
But Vander Wyk says she’s still got plenty of fight left in her. “These people aren’t just letters on a page, it’s people whose lives have value … so tomorrow’s another day of trying to be heard.”
From province to province Vander Wyk travels rallying in front of government buildings and minister meetings, begging for them to hear. Because they’re based in Chilliwack, Cure SMA Canada has had good luck with the local MP and MLA, said Vander Wyk, but it’s still not enough.
“Truly, what we need is (more) people (supporting) our voice by writing to their MLA, signing our petition, or donating to the charity. We’re in desperate times because all of this advocating … (because) this treatment is safe, effective, has reversed symptoms, and no other treatments are even close.”
For more information about Cure SMA Canada, please visit CureSMA.ca. To sign the House of Commons petition, please visit Petitions.OurCommons.ca/en/Petition/Details?Petition=e-1635.