What is a rare disease?
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.
Most rare diseases are genetic, and are present throughout a person's entire life, even if symptoms do not immediately appear. In Europe a disease or disorder is defined as rare when it affects less than 1 in 2000 citizens.
They are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.
Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis.
None of us is protected by statistics
The fact is that while a disease might be labeled as “rare”, the number of persons in Europe suffering from a rare disease is estimated at over 30 million.
Rare diseases do not only affect those diagnosed, but their families, friends, care takers and society as a whole.
While one rare disease may affect as few as 1 in 50,000 people, rare disease patients collectively comprise 6 to 8 % of the EU population.