A disease is considered as rare when it affects less than one in 2,000 people. It corresponds to 3 million people in France and nearly 30 million in Europe.
In France they represent a major public issue as the 7,000 to 8,000 rare diseases identified affect 4.5% of the French population. Half of them affect kids younger than 5 years old and they are responsible for 10% of the total death of kids between 1 and 5 years old.
80% of them are genetic and the other one are caused by infections (bacterial or viral infection), allergies or environmental factors.
Most of them are severe, chronic and progressive thus considerably impacting patients quality of life. They could lead to a motor, sensory or mental deficit in 50% of the cases and a complete loss of autonomy in 9% of the cases. Each rare disease affect a limited number of persons and its is characterized by a variability of symptoms from one disease to another, but also from one patient to another with the same disease. Because of this rarity, they have specific issues.
An average diagnosis wandering of 4 to 5 years
Rare diseases can be hidden behind relatively common symptoms, leading to misdiagnosis.
Lack of effective treatment
In a lot of cases, the lack of effective treatment increases the suffering and distress of patients and families.
Most of the patients affected by a rare disease encounter similar issues during their are pathway. Access to quality care, comprehensive social and medical care, coordination of care between hospitals and family doctors, autonomy, professional and civi integration are also very challenging for patients with a rare disease.
The Rare Diseases Platform brings together 6 structures to move forward efforts on rare diseases: AFM Téléthon, Alliance Maladies Rares, Orphanet, Maladies Rares Info Service, Eurordis and Foundation For Rare Diseases.
The Rare Diseases Platform: www.rarediseaseplatform.org