Rare Diseases: A Common Problem

The importance of rare diseases stem from the fact that in many cases rare diseases are so rare that an individual physician may have never seen a single patient with that disorder. As a consequence, in many of these cases there is insufficient treatment and by the time a diagnosis is made, it may be too late to help the patient. The variability of presentation of these diseases makes it particularly difficult to recognise and diagnose. Furthermore, some of them may present with common symptoms that may be mistakenly attributed to a common disease. This leads to reduced awareness and a delayed diagnosis.