Leading up to Rare Disease Day on February 28, some of Canada’s top rare disease advocates share how advocacy became a part of their lives, what they are fighting for and how they find optimism in difficult times.
Spinal muscular atrophy (SMA) is a genetic disorder with four primary types — Type 1, 2, 3 and 4 — with Type 1 being the most severe. SMA is a progressive disorder that causes muscles to weaken over time, and symptoms can range from weakness in the arms and legs to being unable to breath independently or swallow. The prevalence of SMA in Canada is estimated to be 1 in 10,000 live births.
Healthing spoke with Catherine Boivin, who lives with SMA, to learn more about the disorder and her life as an advocate.
This interview has been edited for length and clarity.
What are some challenges faced by the SMA community?
In the past there wasn’t any treatment for SMA, but today a few are available, so one of the big challenges is making sure everyone has access to these treatments.
In 2017, Health Canada approved Spinraza, which is a medication that is injected with a needle into the lower back and administered every four months. Quebec was the first province to make the drug accessible to everyone with SMA, regardless of age. So in a way that was a big win, but it was also hard to then look at our peers across Canada and see that they didn’t have access to this treatment yet.
In 2020, another therapy called Zolgensma was approved, which is the only gene therapy approved by Heath Canada to treat SMA. It’s a one-time treatment that’s given before a child reaches the age of two and it replaces the missing or faulty gene that results in SMA. Unfortunately, it’s very expensive — $2.91 million dollars — and not every province has it publicly funded. It’s unfortunate that there always has to be this sort of piece-by-piece, province-by-province battle.
What is your role in the advocacy world and what are some of the things you’re currently advocating for?
I have a passion for volunteering. I am part of the advisory committee for Muscular Dystrophy Canada and I am a board member with the Canadian Organization for Rare Disorders. I became very involved in advocacy back in 2017 when Spinraza was approved, which I currently take.
One of the main things I am advocating for is equitable access to treatment for all patients. There is now access across the country to Spinraza for children up to the age of 12, but not every province is funding this drug for older patients. We’re also fighting for access to the latest treatment called Evrysdi which was approved by Heath Canada last year.
Aside from getting access to treatments, there has always been a need to advocate for access to the best standard of care across Canada, whether it’s medical specialists, occupational therapy, or access to personal support care which is a reality for many SMA patients.
How has being on Spinraza helped you?
I am 41 years old and when I was diagnosed with Type 2 SMA at around 18 months old, there were no treatments at the time.
I’ve been lucky and definitely felt some improvement since being on Spinraza. It’s not necessarily something that can be easily measured or quantified which is another struggle we have sometimes as advocates — how do we measure success in terms of outcome for patients using these treatments? In the adult population, our main concern is progression of the disease. If we have a treatment that can stabilize or stop that progression, it’s already a big relief and a big step forward. I’ve felt at a minimum a stabilization, a sort of stop in my decline, but I’ve also seen some benefits.
Advocating for rare diseases can be tough. What advice do you have for other advocates and how do you stay optimistic?
I would say stay connected with your community and look at what other people are doing and find inspiration in that. Try not to put the weight of the world on your shoulders. In terms of staying optimistic, I try to take the approach of one day at a time or one battle at a time. I also remind myself that advocacy is a collective effort — you’re never fighting alone.
What do you do for self-care?
I would say sleep is my number one priority for self-care.
And your favourite treat?
I would have to say chocolate!
February 28 is Rare Disease Day, a global movement focused on improving equity in social opportunity, health care, and access to diagnosis and therapies for people living with a rare disease. For ways you can support Canadians living with rare diseases visit the Canadian Organization for Rare Disorders. Click here to join CORD as it launches the Year of Action to bring Canada’s Rare Drug Strategy from Vision to Reality on February 24.
Vanessa Hrvatin is a B.C.-based freelance writer.