Today, February 28, 2018, is Rare Disease Day. Since 2008, the last day of February has been designated as Rare Disease Day. It began in Europe and Canada and soon thereafter, other countries followed suit.
This is the day that countries throughout the world raise awareness of the 1 in 12 people who have a rare condition. Here in Canada, many advocacy groups will be raising awareness of a particular rare disease and more broadly, asking the community to understand that while each rare disease represents a small population, as a whole the 7000+ rare diseases account for about 8% of the population.
The campaign this year is a positive one in which patients are asked to #showyourrare and be proud that they are participants in ground-breaking research that is changing the medical landscape. For example, the recent approvals of gene therapy in the United States are for rare conditions.
These positive affirmations are in stark contrast to a concerning trend that seems to be present in Canada – namely to not properly recognize rare diseases as different. There is a reason that the zebra is the symbol of rare diseases. Zebras are rare and while the doctors are growing more and more aware that when they hear hoof beats (symptoms) that is may not be a horse (common condition) but rather a zebra (rare disease), the government of Canada seems to be less inclined to separate rare from common conditions. There is currently no definition of a rare disease in Canada. Furthermore, they do not plan to have one in the foreseeable future. More troubling is that the recent proposal by Patented Medicine Prices Review Board (PMPRB) to amend how it reviews drugs and pricing does not even acknowledge rare diseases or orphan drugs but is trying to fit these highly expensive drugs into a model more suited for larger populations. This is well documented in a recent report by the Canadian Organization of Rare Disorders (CORD) who eloquently state their concerns the that proposed PMPRB changes are not only bad for rare disease patients but they are also bad for Canadian research.
So while we celebrate this day with a positive outlook and frivolity (see below), the growing trends in Canada to try to make a small zeal of zebras fit into a large herd of horses is very discerning.