A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population. Most rare diseases are genetic, and are present throughout a person’s entire life, even if symptoms do not immediately appear.
According to the Canadian Organization for Rare Disease (CORD), 1 in 12 Canadians are affected (or impacted) by rare disorders, while many are at risk, but remain undiagnosed and unaware. This is why it is vital to raise awareness for those stricken by rare disease to ensure that they are provided with the tools, resources and support required to overcome common obstacles and break through isolation.
Ontario legislation dictates that drug and treatment funding decisions be based on the best clinical and economic evidence available. By definition, few people suffer from rare diseases and as a result there is little long‐term information available to evaluators. There are not enough patients to conduct formal clinical trials that could provide strong evidence of efficacy using statistical methods.
The cost of drugs and treatment is usually very high due to the small market from which to recover the high costs of development and training. A resulting lack of national data means it is difficult to demonstrate the cost-effectiveness of treatment despite individual experiences pointing to treatment reducing health care system reliance, and the comparative costs given the small numbers of patients for whom treatment is available. As a result, many treatments for rare diseases fail to be approved under the current funding model.
Many studies have concluded that the most responsible way forward is a specific model for funding drugs, treatments and training for rare diseases.