If you have a rare disease, the search for a diagnosis can often feel like the longest detective investigation - with no clues, lots of blind alleys and, occasionally, disbelieving authorities. It may seem like things are going nowhere, even for years.
Sometimes this is because information on the condition just isn’t available and not enough research has been done; other times it’s difficult to find someone knowledgeable enough to spot the signs of a rare disease. After all, these diseases are so rare that many doctors have never come across them in their careers. Either way, a person with a rare disease can end up playing investigator in their own personal medical mystery – and in some situations even end up solving the case, or devising treatment, for themselves!
Read some stories from patients.