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The right to health care agency: Rare disease patients deserve treatment choice

Nearly one Canadian in 12 is living with a rare disease, and choice in treatment is important for every single one of them.

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James of Calgary is 14 years old and at the start of what will be a lifelong journey with Gaucher disease. Though there are several treatment options for the rare genetic condition, there’s no cure. For James, as for the millions of Canadians living with one rare disease or another, choice and agency are paramount when it comes to deciding the treatment plan that will shape his future.

James’ family had hoped that everything would get simpler once he was diagnosed. After all, it was the end of an 18-month period of uncertainty. It all started with a bout of the flu in 2017 that hit James far harder than it should have, and the subsequent discovery that he had an unusually enlarged spleen, a classic Gaucher symptom. “In the year and a half between that first illness and the Gaucher diagnosis, no one really knew what to do with him,” says James’ mother Lorna. “I know that the hardest part of the journey for James was not knowing what was wrong. The not knowing is almost worse than any diagnosis would be. No one wants to be diagnosed with a rare disease, but it was such a relief to finally be able to name it.”

Multiple treatments exist, but choice is a concern

With many rare diseases, patients are still waiting for even a single treatment to be developed and approved. Gaucher patients are fortunate to have multiple options. Gaucher disease is caused by a genetic change resulting in a specific enzyme not working as it should. That enzyme is usually responsible for preventing the build-up of harmful substances in organs and cells. Today, approved Gaucher treatments include three different enzyme replacement therapies (ERTs) delivered by IV as well as a newer class of medications which are taken orally and directly reduce the build-up of the harmful substances.

“If Gaucher disease isn’t treated, there can be serious health consequences from anemia to bone disease, severe pain, and a reduced life expectancy,” explains metabolic geneticist Dr. Aneal Khan, a key member of James’ care team. “So, treatment is very important, not only to control the progression of the disease, but also to improve quality of life.”

As new treatments become clinically viable, the obvious assumption is that patient choice would increase. But the reality can be more complicated, as therapies for a rare disease like Gaucher can be expensive and not all treatments are covered equally in all provinces. The result is that patients can find themselves at the mercy of public and private insurance plans. “What’s also happening in many provinces in Canada right now, is that a different product may be substituted for an existing proven treatment simply due to cost,” says Dr. Khan. “In many cases, it’s not unreasonable to switch a patient to a new treatment in a situation like this. The concern here is that these switches could result in reduced choice to drugs that have been working for patients for years.”

It’s not clear whether patients in some provinces who don’t respond to the lower cost treatment will have the option to switch back to the treatment that was working previously, and there’s a concern among patients that they may not be on the preferred therapy chosen by their doctor. 

When treatment options are available, doors are opened

James and his family are grateful for the ERT treatment and care that are currently serving him well, but they’re concerned about how limited choice in treatment might affect James’ life options in the future. “The possibilities for James are endless but there are still constraints placed on him by the practicalities of treatments,” says Lorna. “If he wants to go to school out of province, for example, there are all these logistics surrounding his treatment that most students don’t have to deal with. Even in the short term, because he has in-patient treatment every two weeks like clockwork, we basically have to schedule our lives around it.”

It’s a conundrum that other Gaucher patients can easily empathize with. Consider another Albertan, Tim, a new father who recently turned 40 and has been on treatment for Gaucher disease for most of his life. When he wanted to pursue his MBA at a top school in Australia, the scenario that Lorna imagines became his reality. Studying abroad while on ERT was a serious challenge, though he was able to overcome it. And, more recently, he’s been able to switch to an oral medication which has proven to be a better fit for his current active lifestyle. “I was fortunate to be a good candidate and to receive coverage for the medication through my work,” says Tim. “I recognize that not everyone is as lucky.”

Empowering patients through choice

Having lived so long with the disease and having personally experienced the advantages of choice in treatment, Tim has become a strong advocate for placing treatment agency in the hands of those it affects most. “Given that there are options out there, I don’t understand why the patients themselves aren’t the ones with the ability to make that choice,” says Tim. “The choice can impact the patient’s life directly and dramatically. I really believe that all patients in Canada should have the right to choose the treatment that works best for them.”

And, though James is only taking his first steps into treatment, his family is also heavily invested in ensuring that as many paths as possible remain open to him. “I’m a strong believer in providing the broadest possible choice for everyone in the health care system,” says Lorna. “People like James can find themselves effectively trapped in a province based on treatment availability. As a Canadian, he deserves to have the same choices and options wherever he goes.”

In order to ensure that all Canadians have equal choice in treatment—regardless of their disease, their place of residence, or their job—it’s essential that we collectively continue this conversation publicly. “My message to patients is that, despite what they might think, their voices are stronger than those of health care providers like me,” says Dr. Khan. “When patients organize amongst themselves and speak with one voice, it’s more likely their voices will be heard.”

The National Gaucher Foundation of Canada is dedicated to supporting the health and well-being of those afflicted with Gaucher disease, including the importance of maintaining patient choice in treatment. Please visit gauchercanada.ca to seek additional resources. 

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