rare disease day 2025: slow movement on billion-dollar pledge for rare disease drugs is leaving canadians behind
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madi vanstone, left, lives with cystic fibrosis, while stephen parrot, second from left, has two daughters, pictured, that live with von hippel-lindau syndrome.
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close to two years ago, the government of canada announced $1.5 billion in funding for the first-of-its-kind national strategy for drugs for rare diseases. the funding was designed to break down barriers for the roughly 1 in 12 canadians living with various rare diseases so that they could access lifesaving or life-changing treatment.
currently, many canadians living with various versions of rare diseases have to contend with barriers, including the postal code lottery and the cost of these highly effective drugs, and these barriers make living life excruciatingly difficult.
living with rare disease without access to treatment
madi vanstone, a young photographer with a dream of breaking into the public relations world, has lived with cystic fibrosis since she was a young child. before she got the medication she’s on now that manages her condition, she says that life was “really difficult.”
“i had a very different childhood than most. i missed lots of school, so maintaining and making friends and friendships was really difficult,” she said. “i pretty much grew up in the hospital between admissions and regular checkups, and when i was out of the hospital, i did spend a lot of time at home sick.”
she recalls her childhood being less than positive due to her dealing with the symptoms of her condition and not having access to proper medications that could have changed all that.
today, madi considers herself one of the lucky ones because she has access to a gene modulator that controls her symptoms, allowing her to experience life as a woman in her early 20s as relatively typically as possible. but it took years of advocacy for her and her family to get the drug that solved a lot of her symptoms.
“it was not covered by the provincial formulary,” said beth vanstone, madi’s mom. “and it was not covered by our insurance plan. so, we lost access to the drug, and we were going to have to see her health go right back to where it was, and obviously, that wasn’t something we were prepared to do.”
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beth notes that she had gone through all avenues she could, contacting her insurance company, working hard, and trying to find any way to pay for the drug that cost $350,000 per year. eventually, the insurance company was going to cover 50 per cent, with the manufacturer agreeing to a 30 per cent copay, but that still left the bill for madi’s care at roughly $6000 a month, a figure most people couldn’t fathom affording, including beth, who said that “it was still not doable.”
beth and madi turned to their community, who raised money to help keep maddie on the drug, but that type of support often runs out eventually, and not everyone who lives with a rare disease could follow that path.
the reality is that madi is just one of thousands of people who go through these issues day in and day out, trying to get life-changing drugs added to provincial formularies so that they can access them without having to take on more jobs, raise funds, or worse—cope without it.
stephen parrott, a parent of two girls with von hippel-lindau (vhl) disease, works in the rare disease space with the canadian rare disease network, the canadian organization for rare disorders (cord), the ontario institute for cancer research (oicr) patient and family advisory council and kidney cancer canada.
his personal experience with his daughters having vhl disease, a type of rare disease that causes tumours to develop throughout the entire body, combined with his professional experiences within the rare disease space, has given him a glimpse of what it’s like to be on both sides of the coin.
he notes that, while his daughters have the disease and it’s been tough for them, they fall into the more fortunate group of people living with rare diseases for two reasons: they can now access the drugs they need, and they were lucky enough to grow up close to toronto sick kids hospital, a medical facility that pioneered new screenings for vhl and so was well-versed in the disease.
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“we’re just very fortunate to a) be in ontario, be close to toronto, get to sick kids, have all this monitoring,” he said. “the girls, they never had any symptoms based on their pancreatic tumours whereas others that have had that type of tumour, my nephew, for example, he had one that grew to be about the size of a baseball on his adrenal gland, and it caused him to faint, sweating, i mean, he really suffered. people could die from that.”
the discrepancies between how his daughters received care against others who couldn’t access it came down to a simple postal code lottery, which is the term used to describe how if you’re lucky enough to live in a specific area, access to care will be far better for you than those with the same disease who live elsewhere.
people like madi, beth, stephen, and his daughters hoped the new pledge announced two years ago could pay for viable change, but not much has happened since then.
slow-paced change for rare disease in canada and the consequences
the national strategy for drugs for rare diseases was first announced in march of 2023, with funding being available in 2024.
each province was given the choice to sign on to the strategy to receive funding, with recommendations on where to spend it. they were given a list of drugs to make available to the public and were allowed to pick and choose which ones they added to their formulary based on demand. the funding was also recommended to contribute to improving screenings for rare diseases and enhance support systems that improve access to rare disease drugs.
even with over a billion dollars at the table and six provinces signing on to receive the funding to provide actionable change for people living with rare diseases across the country, those same provinces have failed to put that money to good use.
durhane wong-rieger, president and ceo of cord, works to create solutions to bring to the provinces that give them data-backed ways to provide support for the rare disease community, but since the $1.5 billion pledge, she notes that change is virtually non-existent.
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“nothing has changed in terms of being able to set up a system where these patients are on the drug faster because they’ve been approved,” she said. “they still go through exactly the same process. there’s still no investment in awareness, no investment in diagnosis, et cetera.”
wong-rieger notes that even now that the money’s there, there’s no way to tell what they’re going to be doing with it in the rare disease space, and no plan has been given to rare disease organizations such as cord that allows them to breath a sigh of relief that the correct problems are receiving solution-level funding. she also notes that she doesn’t want to scoff at the money because “how do you feel bad about $1.45 billion?” but the way it’s set up, things are not moving fast enough.
because the provinces are seemingly dragging their feet on getting things moving, people with rare diseases are left lying in wait for drugs they desperately need.
“there are drugs that canadians with rare diseases do not have. access to that could be saving their lives and improving their lives, and it’s a canada problem. it’s a provincial problem,” said beth. “it’s something that needs to be changed in order for rare disease patients in canada to live their best lives and have the same access that most of the other developed countries have.”
many people unaffected by rare diseases are unaware of how dire the situation is for people, but madi has seen firsthand why change is needed sooner rather than later.
“everyone’s fighting to get these medications (and) these people are passing away. it’s happened to some very close friends of mine,” she said. “we’re all kind of connected, so you do make friendships, especially online, you get to know other people, and you make relationships with other people and then over the years, we’ve seen so, so many people pass away because the system is flawed, and they can’t get what they need to live.”
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stephen notes that with the ambiguity faced by people in the rare disease space regarding where the money will be spent, programs need to be in place that support canada-wide uniformity in how drugs are made available because some areas don’t have the same demand for certain drugs as others.
for example, british columbia has a higher demand for a drug for vhl, but in pei, where one of stephen’s daughters’ lives, the demand is much lower. this leaves people with her disease in the province vulnerable to provincial decisions that could discount their needs for a medication that allows them to live a relatively normal life simply because the numbers aren’t high enough.
“there’s a lot of precedents that are going to be set over the next year about what’s acceptable to spend that money on,” he said, later continuing, “there needs to be interprovincial medical agreements on funding.”
advocating for change and the right platforms to be implemented
while the provinces toil away at finding the right way to approach rare disease funding, advocates and rare disease professionals such as beth and madi, stephen, and wong-rieger continue to do their part in improving the issues that 1 in 12 canadians with rare diseases deal with.
according to wong-rieger, it’s all about taking the money and allowing those who know what the rare disease space needs to build something viable.
“all we got was a box of legos,” she said regarding the funding. “and they said, ‘okay, you got legos.’ so, it’s up to us to figure it out. they gave us the legos. now, let’s see if we can build something and sell it. this is my challenge, is to make something worthwhile, but at least i got the legos. up until now, i didn’t have the legos.”
according to beth, progress, no matter how small, is still a step in the right direction.
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“any progress is good progress, and we’re going to be happy and thankful and appreciative, but it’s really like a tiny band-aid right now,” said beth. “we need a lot more. we can only view it as the door being open and hoping that we can nudge our way in and say, ‘let’s address all the issues.”
in the meantime, stephen recommends people with rare diseases lean on community as much as possible, and reach out to centres that are available now, such as irarecentres.
“the irarecentres is, i think, the key because that’s a 1-800 number across canada patient support,” he said. “we are so blessed to have that, and so few people know about it.”
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