What is a rare disease?
The Rare Disease Cause
The most startling aspect of rare diseases is that collectively, they impact many lives. In fact, more than 30 million Europeans suffer from a rare disease.
There are between 5,000 and 7,000 distinct rare diseases, defined as a disease that affects less than 1 in 2000 people in Europe. Rare diseases are chronic, degenerative, disabling and ultimately life-threatening.
In addition to hardships caused directly by their disease, people living with a rare disease face many common challenges, such as delayed or inaccurate diagnosis, difficulty accessing care, financial burden and a tremendous feeling of isolation for patients and families. Lack of knowledge or access to expertise and services often leads to greater suffering and earlier death. This is especially tragic in cases where it is possible for patients to maintain a normal quality of life if their disease is diagnosed on time and patients can access treatment.
The European Commission has made rare diseases a public health priority, as the nature of these challenges calls for a pan-European response.