february 28: it's world rare disease day

What is a rare disease?

In France, a disease is called

rare

when it affects less than one person in 2,000, or less than 30,000 patients per condition. 80% of these diseases are genetic in origin while the others are caused by infections (bacterial or viral), allergies or environmental factors. Most often, they are severe, chronic, of progressive evolution and considerably affect the quality of life of the sick. The 7,000 rare diseases identified to date concern more than 3 million people in France. Half of them affect children, causing severe disabilities because they prevent them from breathing (cystic fibrosis), from moving (myopathies), from seeing (retinitis), from understanding (Fragile X syndrome), or from resisting infections, etc. These diseases affect in total as many patients as cancer, all types, and more than type 2 diabetes.

Given the small number of cases in each of them and their great diversity, the clinical diagnosis of these diseases is often complex and the management difficult. Medical and scientific research is essential. Indeed, many of these conditions are also called

orphans

That is, there are no drugs that can cure them or relieve the symptoms they cause.

Why a rare disease day?

The main objective of the Rare Disease Day is to improve the general public's knowledge of these diseases and their impact on patients' lives. It also aims to raise awareness among policymakers, governments, industry representatives, researchers and health professionals of the challenges they face in better managing patients.