“Why not me?”: Many SMA patients left without access to disease-modifying medicines due to age, geography

Bryan Weatherall

“I’ve been on the farm pretty much my whole life. I did move to a 20,000-person city for a year and I couldn’t stand it. They always say something like ‘you can take the boy off the farm, but you can’t take the farm out of the boy.’ I can attest to that.

I love the nothing out here. No traffic, no rush, just birds chirping around you. I love my rural community and everything that comes with it. The fishing, the four-wheeling. About the only thing I don’t love is how hard it can be to get around, particularly if you’re disabled.

I’ve got to have one of the mildest cases of SMA I’ve ever heard of, though. I’ve met hundreds of people with this condition, and I’m one of the only ones who made it to 30 still walking, still hiking, still doing hard physical farm work. Personally, I think part of it comes from growing up with three brothers. Even though I was diagnosed with SMA when I was two years old, they never went easy on me.

Everything changed for me about two years ago, though, when I fell and broke my femur. I’ve been in a wheelchair ever since. I can’t get in my truck anymore. I can’t get onto my four-wheeler. I can’t get to the good fishing spots. We’ve had to completely redesign our farm so I can keep doing as much of my work as possible. I tend the crops, mind the beehives, collect the maple syrup, and feed the animals all from my chair now.

And, while I can take my chair down the country road to the village where I sell produce—strawberries, corn, peas, squash, garlic, cucumbers, asparagus—I can only do it when the weather’s nice. In the winter and on rainy days, I’m stuck inside. I’m a bear. I hibernate. I have no choice.

Brooklyn Marx

“Recently, I got it in my head that I was going to bake banana muffins. My partner, Trevor, looked at me in my wheelchair, with my one good arm, and asked if I’d ever made muffins on my own before. ‘No,’ I said with a big grin on my face. ‘It’s going to be a disaster.’

But he set me up in the kitchen all the same. He laid out the ingredients and then he left for a couple of hours to run errands. When he got back, the kitchen was a mess, I was exhausted, but there were banana muffins. The pride of those muffins lasted me all week.

Being able to do things on my own has always been so important to me. Cooking, going out, grabbing coffee with friends, drawing, working with clients, being creative, and being productive. The idea of losing the physical ability to do any of that independently is really scary. And with SMA, there’s no way to know when that might happen.

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Trevor and I are trying to plan our future. We’re looking to buy a house together, we’re thinking about kids. But, when we talk about what parenthood will look like with SMA, there are no concrete answers. My function 10 years from now could be similar to today, or it could be so much less.

What’s infuriating is knowing there are multiple Health Canada-approved treatments for SMA, but that not everyone can get access to them. When I was 27, SMA medications were approved for general use in my province but only for those 25 and under. It’s an incredibly terrible feeling to have such big dreams, and then to be told more than once that I’ve just missed the window for access to treatments that might help me achieve them, all because of my age.

The fight for access in rare disease communities is never-ending. I put as much energy as I can spare into that fight, but I also need to conserve energy for my career, for my relationships, for getting groceries, for getting through the day. Tomorrow still needs doing, whether I have access to treatments or not.

As a registered psychotherapist, I work with a lot of disabled people in my practice. This injustice is unfortunately so common. Some people put their whole being into the fight for access, and that’s beautiful. But then I wonder… what’s left for baking banana muffins?”

Jeremy Bray

“I was diagnosed with SMA at 15 months old, and I was in a wheelchair by the time I was three. I can’t remember things being any other way.

I always did very well in school but, by high school, I found myself wondering why I bothered. As my disease had progressed, I’d slowly lost the ability to do the things that gave me a sense of joy and independence. I couldn’t play video games. I couldn’t feed myself. I started dealing with a lot of depression. What did it matter how well I did in school if I wasn’t going to be able to work—to contribute—with what I learned?

What saved me, what helped me get my mental health back on track, was setting achievable short-term goals three to five years at a time. Graduate high school with a 90-plus average, and then figure out what’s achievable next. Graduate university with a computer science degree, and then figure out what’s achievable next. Find a job I can excel at despite my disability, and then figure out what’s achievable next.
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And what was achievable next kept surprising me, even as my function declined. Today, at 29 years old, my physical mobility is almost entirely confined to my left thumb. But, with that one thumb, I can operate my wheelchair, my phone, my computer. I have a job writing code and analyzing data for a school division, and I’m really good at it. I’m able to contribute after all.

But I know it could all disappear quickly. The first thing I do when I wake up each morning is move my thumb around, to check that it still works. If I lose function in my left thumb, I stand to lose my livelihood, my purpose, and my hope.

I spend a lot of time thinking about the future. My sister had a baby just a few months ago, and now I’m an uncle for the first time. I want to be around to see my nephew grow up. More than that, I want him to grow up seeing me still working, contributing, being positive and proactive. I want him to look at me and see what disabled people are capable of. That’s my short-term goal right now and I hope I can get the help I need to make it an achievable one.”