About Rare Diseases
A disease is considered rare when it affects fewer than one in 2000 people, in other words most often a few hundred or a few dozen patients for a given disease.
Although the diseases are rare, patients with these conditions are numerous because there are 5,000 to 8,000 rare diseases. A total of 3 million people are affected in France and 30 million in Europe.
- Characteristics of rare diseases
Rare diseases are extremely diverse: neuromuscular, metabolic, infectious, autoimmune diseases, rare cancers ... 80% of them are of genetic origin.
About two-thirds are serious and disabling. Almost half of cases are life-threatening. The occurrence of motor, sensory or intellectual deficit is observed in half of them.
- Consequences for those affected
- Delayed diagnosis due to a lack of familiarity with these diseases, difficulties of referral in the health system, and scarcity of expertise.
- Need for followed-up in an expert centre in order to receive quality care from specialised professionals.
- An absence of curative treatment for most rare diseases and inadequate research.
- A feeling of isolation experienced by patients and their families.
- Day-to-day difficulties in exercising their rights and participating in social activities.
- The scarcity of high-quality, suitable information sources.
- More information on rare diseases
One of the Maladies Rares Info Services Helpline listener-counsellors