Ishan Manerikar and his sister Shanaya have lived their entire lives with Spinal Muscular Atrophy (SMA), a rare and progressive genetic neuromuscular disorder that affects about one in every 6,000 Canadian children.
Now in their teens, their lives have been characterized by a steady loss of motor function that began in infancy. Without treatment, that progressive decline will continue until they are eventually unable to breathe on their own.
Because SMA is rare, diagnosis often comes as a surprise. “We noticed that Ishan, at six months old, wasn’t crawling, wasn’t rolling over, and wasn’t very active at all,” says Pradeep Manerikar, Ishan and Shanaya’s father. “Eventually we got to see a neurologist and, after the first visit, he said he wanted to do some tests for something called SMA.”
When the tests came back positive, an intense learning process began. “We had never heard of SMA before,” says Karen Kornelsenand, Ishan and Shanaya’s mother. “We didn’t even know it existed,” Manerikar says.
New treatment brings hope, and frustration
At the time of Ishan’s diagnosis in the early 2000s, there was simply no treatment available for SMA. But there was promise on the horizon. “When Ishan got his diagnosis, the doctor said there was treatment coming,” says Kornelsenand. “So I just held on to that hope that there would be something for them.”
In 2016 that promise was delivered in the form of the very first treatment shown to be effective at slowing, stopping, and sometimes even partially reversing the progression of SMA. But, to this day, it’s still not being made available to all who could benefit from it. “We waited and waited, and then finally there was something real and viable and we were so excited,” she says. “But now, it’s so frustrating because we can’t access it. I feel like our government has inadvertently told everyone with SMA who isn’t eligible for treatment that their lives don’t have value.”
With progressive diseases, every day matters
According to Susi Vander Wyk, Executive Director of Cure SMA Canada, time is of the essence for patients with the disease. “Our patients have waited far too long to access the only treatment ever to come available for Spinal Muscular Atrophy. Some of our patients have been declining steadily since their diagnoses, making them more dependent on others for tasks they used to be able to perform themselves,” she says. “If a drug is able to change this outcome for a patient, why is Canada withholding treatment?”
Vander Wyk’s 22-year old daughter Holli lives with these challenges on a daily basis. As a type 2 SMA patient, she finds strength in a community of others with SMA. “I have always said that I have my blood family and my SMA family,” she says. “Because your SMA family supports you and understands you like no one else can.” Despite treatment being on the horizon, the younger Vander Wyk has been unable to access it as a Type 2 patient. “I have faced tremendous difficulty accessing treatment as an adult with Type 2. I would love to have the opportunity to take it to increase my strength and decrease my progression,” she says. “In the future, I hope that every individual has the ability to access whatever treatment is created. Everyone deserves the chance to better themselves and their lives are one and the same.”
Waiting for treatment
When it comes to the lives of those with SMA, including teens like the Manerikars, waiting for the scope of treatment to be expanded may not be an option. “At the rate that I’ve declined, I think I’ve only got about a decade of decent quality of life left,” says Ishan. “Ten years isn’t very long when you’re dealing with the government.”
From the perspective of an SMA family, there is no justification for letting red tape keep young people from the treatment that could save their lives. “A lot of children with SMA have passed away while we’ve been waiting,” says the elder Manerikar.
SMA has no cognitive effects — it’s heartbreaking to see bright and engaged young Canadians watching their bodies decline knowing that treatment exists. The siblings, like all teenagers, have dreams for their future. But unlike most, they’re waiting for the government to decide if they’ll get a chance to pursue them. “My plan is to go to university, get a master’s degree, get a job as a teacher or a counsellor, and hopefully have a family and a couple of kids,” says Shanaya. “But I have to accept that this might not be viable in the future. Treatment could make the difference.”
