Canadian kids wait for treatment as their diseases progress - Macleans.ca

Canadian kids wait for treatment as their diseases progress

With rare diseases, a new treatment can be nothing short of a miracle. But limited accessibility and bureaucracy often keep these drugs out of the hands of those who need them most.

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Eight-year-old Mason Stewart with mom Jenna, brother Casey, and dad Eddie on the family farm in Perth, ON. They are joined by Eddie’s mother Amy Himmelman (left), Jenna’s mother Angie Webster (second from right), and her partner Jerry Edwards (right).
(Credit: Alexa Mazzarello)

Mason Stewart lives on a farm outside of Perth, ON. He’s eight years old and loves sports, animals and the outdoors. But Mason faces special challenges pursuing these interests because, like about one Canadian child in every six thousand, he has spinal muscular atrophy (SMA), a rare and progressive neuromuscular disorder.

Mason was born a healthy baby and, for a while, there was no sign that anything was wrong. “Mason was a normal kid,” says Jenna, mom to Mason and eleven-month-old Casey. “He hit all his milestones. He crawled and walked and did everything on cue. But when he walked, he had a bit of an awkward gait, a swagger in his hips.”

This and other small signs eventually worsened and led to a series of doctor’s visits, progressively further from the farm. Finally, after a five-day stay at a hospital in Kingston, Mason was diagnosed with SMA in 2011, just shy of his second birthday. “I didn’t even know what SMA was before we got to Kingston,” says Jenna. “When they said that they thought he had a neuromuscular disorder called SMA, my first question was, ‘How do we fix it?’ I remember them saying, ‘There’s no treatment. There’s no cure. And it’s progressive.’”

Mason’s family had to face the prospect of a future in which he would slowly lose what strength, mobility and independence he had acquired. Then, in 2016, the very first treatment for SMA hit the market in the United States and changed everything.

Hope where there was none

The new drug effectively converts an unused gene into a working copy of the gene that malfunctions in SMA patients. While it’s not a cure, the results of the treatment can be dramatic. In many patients, progression of the disease halts entirely, and some even regain mobility milestones they had previously lost.

“Our best SMA friends are in Texas and their daughter, Kadence, is only a day apart in age from Mason,” says Eddie, Mason’s dad. “Her parents fought hard with their insurance company and now she’s been on the treatment steadily for almost a year. She’s doing things she was never able to do before. For the first time, she can independently climb stairs. She can ride a bike.”

Children in Canada, however, continued to wait, as it took an additional six months for the treatment to be approved here. “It was hard watching her progress by leaps and bounds while Mason was still struggling at home, just because we live in Canada,” says Jenna. “We were happy for them, of course, but we couldn’t help asking why every child couldn’t get access to this drug.”

“We’re running out of time”

The fight didn’t end with Health Canada’s approval of the new treatment in June of 2017. As with many treatments for rare diseases, the costs can be too much to bear for most families, and both public and private payers have been slow to approve the treatment for reimbursement. As the months tick by, families like Mason’s feel the weight of lost time heavily. “At Mason’s age, it’s almost like we’re running out of time,” says Jenna. “He’s at the age where he’s getting quite tall and gaining weight, and he’s no longer able to do the things he could before. We live on a country farm so it’s hard for him to do things, especially in the winter.”

At the time of our conversation in January, Mason’s treatment had finally been approved by his family’s private insurance company after a lengthy battle. By the time of publication, that treatment will be underway. When I asked Mason how he felt about the treatment, he answered simply: “Happy and scared.”

For Mason, the thought of gaining even small amounts of additional mobility means the world. “He wants to help out around the farm,” says Jenna. “Honestly, his hopes and dreams right now are simply to be able to get up on his own if he falls, to go up a set of stairs himself and to get into his bed on his own—things that we all take for granted.”

Mason and his family are very much looking forward to the rest of the year and the new opportunities that it’ll bring. They’ve seen the results of the treatment in other children in the SMA community and, though cautious, they’re optimistic. “Most importantly,” says Jenna, “it gives us all hope and something to look forward to.”

Despite the very positive turn Mason’s story has taken, it’s important to remember that there are others in Canada who are still in that painful waiting period, watching as their diseases continue to progress. The Stewarts have not forgotten them. “If anyone in Canada is looking for guidance on how to fight for their own children, we’re going to help them,” Jenna insists. “I’m not going to stop fighting just because Mason got his treatment, when there are other children in Canada who are still waiting.”

In December, CDEC and INESSS published reimbursement recommendations for public funding in Canada. These recommendations are some of the most restrictive in the world to date, limiting access to a very small number of newly diagnosed patients. Unfortunately, for many hopeful patients like Mason, the reality of treatment may remain just out of reach.

Globally, 37 countries have provided funding for treatment. These countries appreciate how challenging this disease is for children and their parents, and they understand the huge unmet need for a treatment that could change patients’ lives and allow for children to live longer lives with a greater quality of life. We’re still waiting for Canada to make a decision on funding while we continue to watch our children deteriorate. We continue to be hopeful that the Canadian government will fund treatment, although our hope diminishes every day.

The Stewart family are active members of Cure SMA Canada, the leading patient group dedicated to advocating for the SMA community in Canada. Please visit www.curesma.ca to find support, additional resources, and ask questions. 

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