Rare diseases are diseases that affect no more than one in 2,000 people. While each of them affects a limited number of individuals, they are nevertheless numerous. There are between 5,000 and 8,000 of them in the world.
About 80% of rare diseases are genetic - mostly hereditary diseases, such as cystic fibrosis, types of muscular dystrophy, hemophilia, etc. Rare diseases also include other types of diseases, particularly autoimmune diseases, such as scleroderma, infectious diseases, toxic diseases, malformative diseases and rare types of cancer.
Rare diseases can affect up to 8% of the Quebec population. They affect children, adolescents and adults alike.
Living with the disease
Rare diseases can be bothersome, cause disability and even be fatal. Many people with such a disease can suffer from chronic pain, have multiple affected organs or live with different forms of deficiency.
Moreover, these diseases are often not well known. As a result, they may be difficult to diagnose and treat. Many of them have few or no treatment options.