Why Aren't Children with Rare Diseases Getting Access to Treatment?
Patient Perspective Parents with children with rare diseases such as spinal muscular atrophy (SMA) are fighting for equal access to treatment.
Every parent knows the gut-wrenching feeling of helplessness that comes when your child is sick, and you can’t make them immediately better. Anne Belanger of British Columbia has been asking that question for her son’s entire life. Miles is 12 years old and has type-2 spinal muscular atrophy (SMA), a rare and progressive neuromuscular disorder that affects about 1 in 6,000 children. But Anne isn’t letting the feeling of helplessness win. She’s fighting.
Miles was diagnosed with the disease when he was just 13 months old. His parents knew something was out of the ordinary because he had not started to crawl and seemed weaker than he should be, but they had no way to be prepared for what the test results would show. “We had never even heard of SMA. No one in my circle of friends and colleagues had ever heard of it.”, says Anne. “The likelihood is that many SMA parents will bury their children. No parent wants to think about that. It’s not the natural order of things. You mourn everything that will never be.”
Decades of research, hunting for a treatment
Without treatment, the course of SMA is a progressive deterioration of motor neurons that sap mobility and motor function until even breathing becomes impossible. At the time of Miles’ diagnosis, there was no treatment at all. “You feel like if nothing happens for your child on any given day, then they are just actively dying in front of you,” says Belanger. “We always knew in the background that research was being done. We would read about progress being made and be hopeful, but it was just never there.”
Soon it was. Researchers had known for over a decade that SMA was caused by a genetic mutation of the SMN-1 gene. They also knew that there was a second, inefficient partner gene called SMN-2 that was almost identical. In 2016, a drug that could successfully turn SMN-2 into a working version of SMN-1 arrived on the market and for the first time, there was a drug for SMA. “Prior to this treatment, we basically treated patients symptomatically,” says Dr. Craig Campbell of the London Health Sciences Centre. “There was nothing we knew of that would even slow the progress of the disease.”
Anne describes learning about the new drug for the first time as a “godsend,” and Dr. Campbell describes what has followed as a dramatic paradigm shift in how the medical community sees SMA prognoses. “We’re starting to think about patients actually being able to improve over time, whereas previously we hadn’t even been talking about stabilisation,” says Dr. Campbell.
“Now, when we are doing management for kids, we have to start thinking about preparing their bodies for possibly gaining milestones, rather than making decisions with the understanding that their motor function would be only continuing to deteriorate.”
Treatment is here, but not for everyone
Unfortunately, in one important way, Anne’s earlier caution about getting too hopeful has proven itself warranted. Though the drug has been approved by Health Canada for all SMA patients, the pathway for public reimbursement remains long and complex. In December, the Canadian Drug Review recommended reimbursement for an extremely limited set of newly diagnosed patients, which means gaining access to it will be nearly impossible for many living with SMA. “Miles, at this moment, according to the recommended public criteria for who gets treatment, would not be approved,” Anne says. “It is physically impacting him. He’s been losing strength for 12 years, and what little he has left is being taken away.”
While they fight for access to the treatment they’ve awaited for so long, the Belangers take solace in the active and involved community of other SMA families, where they have found extremely close friends over the years. “The SMA community is very important to us,” Anne says. “All of us stay in touch and support each other. But at the same time, it’s always so hard to hear about another child getting treatment while we still wait. This might be Miles’ only chance for a bright future. We just want him to be able to live independently, have a career, meet someone and make me a grandmother. He shouldn’t have to be wondering each year if it’s going to be his last.”
It’s difficult for many SMA families who do not yet have access to reimbursement to see a bright future for their child held just out of reach. But the challenge is also reinvigorating SMA advocates like Anne to redouble their efforts in the fight for equal access. Globally, Canada is an outlier, as many other nations’ public health care plans have all chosen to pay for treatment in a broad SMA population, including the United States, Italy, Germany, France, Sweden, Austria, Greece, Israel and most recently, Spain, and Norway. Parents of children with SMA have fought for so long when hope was dim, so they are not about to stop now that it brightens.