What is Rare Disease Day?
Rare Disease Day, which takes place on February 28th, is a day to raise awareness about rare diseases and their impact on patients’ lives.
What is a rare disease?
A rare disease is defined as a condition affecting fewer than 1 in 2000 people. There are more than 7000 diagnosed rare diseases and many more undiagnosed diseases. Nearly three million Canadians have a rare disease.
In North America, NMO affects 4 in 100,000 people. Currently Canada has 2000 NMO patients. 200 of those NMO patients reside in British Columbia.
How does having a rare disease affect patients?
Financial and administrative barriers deter physicians, researchers and scientists from submitting funding requests for small patient markets. Standardized drug trials require a certain number of subjects for a specified length of time. Due to the small patient market of a rare disease population, there are limited drug discovery initiatives funded by pharmaceutical companies. Therapies may be available but are not distributed or developed further due to the limited demand. This means that the drugs available to a patient are severely limited and often the drugs used to treat their diseases are used “off label”, meaning they were developed for a completely different illness. This can lead to a lack of drug coverage by the Canadian government.
For example, the current drug therapies approved in BC for NMO are two immunosuppressant drugs in pill form, which were developed as anti-rejection drugs for kidney transplant patients. A third drug which is administered as an infusion is being used in the US, but does not currently have coverage in Canada. If the two immunosuppressant drugs in pill form fail for any reason, there is no back up drug for an NMO patient to turn to. My NMO specialist in BC is working hard to change this by lobbying the provincial government for coverage.