“Time is neurons”: Each passing day means lost function for Canadians living with Friedreich ataxia

Myriam Perreault

_“When I was a child, my knees were turned inwards and I had back problems. So I saw a podiatrist and I saw a chiropractor. I got plantar orthotics. Nothing really helped. Walking became harder and harder. Other kids kept being able to do more and more, but each year I could do less and less. When I was finally diagnosed with Friedreich ataxia, I had to accept that things were only going to keep getting harder.

At 12 and 13 years old, I was able to keep walking, but only by leaning on the arm of a friend. At 14 years old, I used a walker. By the following year, at 15, I had to accept that it was time for a wheelchair. That was probably the hardest part for me. But I was fortunate that the kids and teachers in my school were very kind. I was never bullied.

I did my best to persist, to keep pushing forward. I was able to finish high school, then college, and then I started my career as a legal technician. But there have always been new challenges. For quite some time I was living independently in college residence, but it got progressively harder for me to transfer myself from bed to wheelchair, from wheelchair to toilet. I’m only 22 now and last year I was able to put on my own shoes. This year I can’t. And so, as everyone else my age is becoming more autonomous, I’ve had to move back into my parents’ house. It’s a weird feeling — and incredibly heartbreaking to give up independence that I once had.

Even with all that I’ve lost, I’m so happy to be alive. There’s so much I can still do, if I put in the effort to adapt activities to my mobility. I’ve been downhill skiing, cross-country skiing, and skating. I’m hoping to get an all-terrain wheelchair soon so I can do even more outdoor activities. I love to travel and I have a busy social life. I have a beautiful service dog named Luna who is a wonderful companion and helps a lot with my independence. I have a job I’m good at.

I try not to think too much about the future because it can be very scary for someone with my disease. But when I do, I just hope that research and new treatments can somehow help me keep what I have now. This disease progresses quickly and I’ve witnessed firsthand how much can be lost in weeks and months, let alone years.

For now, I’m living one day at a time, making the most of each. I’ve learned that anything I might want to do, anything new I might want to try, I need to do today. Because I don’t know if I’ll be able to do it tomorrow.”

François-Olivier Théberge

_“Maxime was six years old and he was very active, into all the highly physical things that six-year-old boys like to do. We’d throw the ball around, play hockey in the street. He did trip and fall more often than other kids his age, but he always bounced back up. We just figured he was a little clumsy. Surely he’d soon learn to adapt to his growing body. He was happy, carefree.

When we received the diagnosis of Friedreich ataxia, it was like a strike of lightning in a blue sky. Everything was fine, and then the world was split in two. The picture the doctors painted of Maxime’s future was devastating. Loss of mobility, cardiac involvement, shortened lifespan. But the worst part was the blunt acknowledgement that, not only was there no cure, there were no treatment options at all.

I’m an engineer, a problem-solver by nature, so my coping mechanism was to go all in on research and fundraising. If there were no treatment options for Friedreich ataxia, that was a problem to be solved. And maybe, with enough people working on it, it could be solved in time to help my little boy. I certainly didn’t want to look back in 10 years’ time and wonder if I could have made a difference.

Today, I am looking back, 10 years on, and I know I’ve given it my all. I’m General Manager at Ataxia Canada now. I’ve seen the international ataxia research community grow from a few people to hundreds of researchers and an engaged industry. I’ve seen clinical trials and new molecules deliver real hope to Friedreich ataxia patients for the first time.

As Maxime grew, every time he had questions about his disease, we would try to be as honest as possible. He was eight when he asked us if this was going to be forever. “Yeah.” At 10, he asked if it was going to keep getting worse. “Yeah.” It broke our hearts each time. And these last couple of years have been especially difficult for Maxime, as he has transitioned into a wheelchair and begun needing more help just at an age where he naturally wants to assert his independence. Watching your child lose abilities they worked so hard to gain is something no parent could ever prepare themselves for.

It’s a hopeful time to be talking to families who have just received a diagnosis, because there’s every reason to believe they’ll have options that others haven’t. But, for those of us who have been in the thick of it for years, promoting research and putting in the work, it remains to be seen whether things are going to move fast enough to help our families get the upper hand on this disease.

We’re at an inflection point where we have to collectively decide if the generation we’re going to help is this one or the next one. I hope it’s this one, because time is slipping away for Maxime and so many others. There’s no way to turn back the clock on the progression of his disease. The function Maxime has today is the most function he’s ever going to have. If we can preserve that function, his future looks very different than if we can’t.”

Dr. Xavier Rodrigue

_“I’ve been working with Friedreich ataxia for 13 years and am currently following 30 patients, so I’ve seen the way this disease evolves. I’ve seen patients slowly lose their mobility, lose their independence, not be able to finish school, not be able to work. I’ve seen the pain and the frustration at the lack of treatment options, with only symptom management available at best. I’ve seen so many teenagers trying desperately to hold on to just enough function just long enough to launch their futures. And I’ve seen the relentless progression of this disease render that impossible over and over again. I’ve also, unfortunately, seen too many patients die from this disease, mostly at around 40 years old.

With a disease like this, any new research or development that gives hope of slowing this disease is game-changing. And what’s incredible is that we’ve seen advancements in recent years that have brought the possibility of slowing down the progression of this disease within reach for many patients. Not stopping the disease, not reversing it, not yet. But slowing function loss, even just for a couple of years, could be very meaningful for patients.

Remember, the classical presentation of this disease sees people losing their mobility at around age 15, becoming confined to a wheelchair before they finish high school. If we can give these young people the ability to hold on to their function just a little longer, so that they can finish their studies, begin their careers, and become active members of their communities, it would make an significant difference for the rest of their lives. Even if the disease did eventually begin to once again progress more quickly, they may have already established their independence. They may have already broken free of the worst of the isolation this disease can bring.

Just as critically, slowing neuron loss would also buy these patients time for new innovation to make its way through the research pipeline. Once treatments start to appear for a rare disease like this one, there are almost always more to follow. The more function one will lose, the less likely they will be to benefit from whatever comes to market next. With this disease, time is neurons.

It was very hard these past 13 years to tell patients that there is no meaningful way of slowing disease progression. It’s even harder to have to tell them that, yes, treatment may soon be possible, just not yet. I do believe the day will come where I can give good news to my patients. It’s just a question of how much time has passed, and how much function each patient has lost, by the time that day arrives.”