Not so rare: The fight for rare disease treatment - Macleans.ca

Not so rare: The fight for rare disease treatment

For Canadians with rare diseases, issues of timely and continued access to treatment are paramount.

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Rare diseases are by definition uncommon. But, collectively, rare diseases like Gaucher, Pompe, Fabry, and MPS (mucopolysaccharidosis) affect millions of Canadians. Many of these diseases can be very serious and even life-threatening, and yet, even when an effective treatment exists, obtaining prompt and affordable access to it can be a challenge in Canada. This is something that health care experts and advocates are working to change.

“In rare diseases, access issues begin with diagnosis,” explains rare disease specialist Dr. Aneal Khan, Medical Geneticist in Calgary, Alberta. “Although every physician will at some point encounter a patient with a rare disease, these patients often fly under the radar. A lot of the standard medical tests that get ordered don’t test for rare diseases, so the diagnosis is often delayed, in some cases for many years. And when you do get the right diagnosis, there may not be a treatment available, or the treatment may be very expensive.”

The smaller market for rare disease medications is behind both the dearth of developed treatments and the often-exorbitant costs associated with them. This is why it’s so important that we, as a society, ensure that government policies are aligned to make sure that Canadians with rare diseases aren’t left behind. “The fundamental problem is that we assume the benefit for the patient is the same, no matter which disease they have,” says Durhane Wong-Rieger, President and CEO of the Canadian Organization for Rare Disorders. “So we see these patients with rare diseases and we see that their treatment is more expensive, and we use the same yardstick we would use for other patients with more easily-treated conditions. It’s like looking at a child with physical and learning disabilities and saying, ‘We could educate 200 kids without disabilities for the same price, so it’s not worth it to bother educating this one at all.’ We don’t do that in education, and we shouldn’t do it in health care.”

Real lives are at stake

Christine White, President of the National Gaucher Foundation of Canada, has two daughters with Gaucher disease. Gaucher is a rare genetic condition in which the body’s system of recycling substances does not work efficiently, and a substance called glucosylceramide builds up to high levels in cells, leading to the disease in the liver, spleen, bone, and other areas of the body. There are effective treatments for Gaucher which, when used before the organ disease is severe, can drastically improve the health of an affected individual. For many years, there was only one therapy, but recently new treatments have been developed. This should be great news, but these new treatments have brought with them restricted access to older therapies. When patients face limitations in terms of the treatment they can receive, Canada’s health care system fails to deliver on its promise. Patients must have early and continuous access to the treatment that is deemed best by their health care provider. “No individual drug is going to suit everyone,” emphasizes White.

While Christine’s daughters, now both in their twenties, were able to gain access to treatment at a very young age, many others aren’t so lucky. Delays in treatment approval mean that many patients with progressive conditions like Gaucher find that when treatment finally arrives, it’s already too late. “My daughters were very fortunate to get access to therapy early in life,” says White. “It has prevented some of the more severe consequences of the disease. They do suffer from fatigue, but you wouldn’t know they had the disease by looking at them. Unfortunately, there are many adults with Gaucher whose bodies have already been ravaged by the disease by the time they’re able to begin treatment.”

A new dialogue

It all comes back to the need to encourage innovative research into rare disease treatments, and to ensure that those innovative therapies are available in both a timely and ongoing manner for the Canadians who need them. This is why we must be so careful not to make decisions that result in pharmaceutical companies not bringing their rare disease drugs to Canada. Recent pricing decisions are running the risk of making Canada a less ideal market for innovative treatments. Though these drugs can be very expensive, we must also acknowledge the higher cost burden of developing treatments for smaller populations. “If we scare companies away from bringing their products to Canada, of course it’s going to restrict the access Canadians have to different drugs,” says Dr. Khan. “I see that as a real danger. We need to engage in a broad public discussion about what the system should be doing and what the criteria should be for buying expensive medications. We need to have good policy on this matter that’s consistent across the country.”

For Gaucher and other rare diseases, we need a new way of thinking about medical access that looks first and foremost at the value a treatment brings to patients. In Canada, no one should be forced to watch their body waste away with the knowledge that there’s a treatment out there that could help them. “In our conception of who we are as Canadians,” Wong-Rieger reminds us, “we don’t make those sorts of decisions about whose life is worth how much.”

The Canadian Organization for Rare Disorders (CORD) is dedicated to supporting the rare disease community in Canada. Please visit www.raredisorders.ca to seek additional resources.

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