Stories from the frontlines of the fight for access to innovative therapies

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Approximately one out of twelve Canadians lives with a rare disease. These conditions impact patients, their families, and their caregivers deeply. Unfortunately, even when treatments that might dramatically improve the quality of a patient’s life exist, they often remain out of reach for a host of different reasons.

In March of 2023, the Government of Canada announced the National Strategy for Drugs for Rare Diseases to help bring innovative therapies to patients across Canada. Now, as advocates continue to wait for a tangible plan to be implemented, we want to introduce you to three Canadians whose lives hang in the balance. These are their stories.

Stephen
Von Hippel-Lindau (VHL) Syndrome

“In 1998, I was in Florida with my daughters Ehvan and Julia and my nephew Eric. Eric wasn’t doing so well. When his mother took him to the doctor, it turned out that he had tumours on his adrenal glands. He wasn’t the first in the family to have these tumours.

Over the next three years, genetic testing of the family uncovered Von Hippel-Lindau (VHL) disease, a rare genetic condition in which tumours grow spontaneously on organs throughout the body, often starting at the adrenal glands. Ehvan and Julia were healthy children, no outward signs of any medical issues. But they had VHL.

And so the screening began, constant MRIs, occasional X-rays, checking their adrenal glands, their brains, their spines, their eyes, their kidneys for tumours. It’s very difficult to explain to your young children why they have to go to the hospital so often, and why they’re always being seen in the ward with the people who don’t have any hair.

By the time they were in university, both girls had been in surgery to have their adrenal glands removed. Living without adrenal glands brings its own complications, need for medication, and risks.

Overall, they have been extremely fortunate. Fortunate to have had such a rare disease identified so early. But the burden of treatment remains substantial. The screenings are without end, and specialized care is heavily localized. Julia lives in PEI now, but she has had to resign herself to coming back to Toronto for treatments, for screenings, for follow-up.

Even more frustrating is the fact that novel treatment for this disease remains stalled in the approval process. My daughters are 30 and 27 years old now. They’re wrestling with the idea of having children while living with a genetic disease. It’s daunting. But it would be less scary if they could be confident that research was progressing and new treatment was on the way.”

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Bryce
Spinal Muscular Atrophy (SMA) – Type III

“I remember being at the doctor with my mom as a teenager and him asking if I was active in sports. My mom laughed. ‘Is guitar a sport?’

I’d never been able to keep up with my peers in sports or active play. I tired easily, I was clumsy, and I fell a lot. But we always just thought I wasn’t particularly athletic. We had no idea there was a chronic and incurable illness lurking behind it.

When I finally got the diagnosis of type 3 spinal muscular atrophy (SMA), I was in denial for a long time before I really began to grieve. I was still relatively healthy and there was so much hope in the treatment research that was being done. I just carried on with my life, telling myself that there would be an effective treatment available long before the disease became a problem for me.

I’m 29 years old now and the disease has become a very big problem. It’s terrifying, actually. I have so much trouble with stairs. I can only walk on flat surfaces, really, and I don’t know how much longer I’ll be able to do that. It’s only a matter of time before I’m in a wheelchair.

I don’t pick up my nieces anymore. There’s so little strength or dexterity left in my arms that I’m afraid I might drop them. And I’m going to be pushed out of my job very soon because I work in health care and, ironically, it’s an extremely unforgiving field when illness and disability put limitations on what you can do.

And what’s so frustrating is that the research I was counting on did pay off. The treatments are here, they’ve been approved by Health Canada, but they’re not available to me because of my age and my SMA type. I’ve fought so hard for access, but at this point, honestly, I’m not holding out hope anymore. The treatments may become available, but it’ll be too late for me.

All I want is to be independent. To be able to work and contribute to society. To be a father some day and be able to hold my kids. To have my future wife be my partner rather than my caregiver. But I’ve accepted that those things are too much to ask.”

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Julie
Cholangiocarcinoma (CCA)

“I started 2022 with my life in order. I had a rewarding career as a surgical sales representative, three thriving children in their twenties, and lived an active lifestyle. I was happy and—I thought—healthy.

But cholangiocarcinoma, or CCA, progresses quickly and often without symptoms. I’d probably had cancer for two and half years without ever realizing anything was wrong. By the time they found it, it had spread from my bile ducts to my liver. Inoperable. They gave me six months.

Suddenly everything that I had been building in my life, everything I had been trying to accomplish—the house, the cottage, the career—they meant nothing. All that mattered were the people in my life and the time I would have left with them. The next day, I was sitting around the table with my kids, my boyfriend, my sister, my parents, breaking the news to everyone. Telling them that it was time to plan for my death.

And then I got a surprise call saying that surgery may be possible after all. In five days’ time, I went from “you’re dying and there’s nothing we can do” to “we’re going to operate immediately.” It was the most incredible emotional whiplash.

One year later, I’m recovering well from surgery and chemo. And I can’t stop thinking about how lucky I have been. Unlucky to get a rare cancer, of course, but so lucky to have had undergone lifesaving surgery. Lucky that it worked.

Most people diagnosed with cholangiocarcinoma in Canada are given next to no options at all. The most frustrating part is that there are innovative approaches being developed and introduced elsewhere in the world. New molecules, new therapies, advances in genomic testing. But so little of it comes to Canada. Or, if it is available here, it’s so hard to access that it might as well not exist.

I’ve been involved in the Canadian CCA community for one year, and I’ve already lost so many friends. They go fast. I’ll be forever in the shadow of a recurrence myself. When it happens, I’m screwed. I know I am. We’re out here fighting for awareness, but the truth is, we need more than awareness. We need a plan; we need a solution. We need our country to prioritize our lives.”

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Patient Voice would like to thank Stephen, Bryce and Julie for sharing their stories. To learn more about Von Hippel-Lindau syndrome, or to seek local support, contact the Canadian VHL Alliance. To learn more about spinal muscular atrophy, or to seek support, visit Cure SMA Canada. Finally, to learn more about cholangiocarcinoma (CCA), or to seek support, visit the Cholangiocarcinoma Foundation (CCF).

A community-based initiative by Patient Voice.