TSC, a rare disease?

Tuberous Sclerosis is a genetic disease, generally with random distribution, with no parental age effect.

TSC is a rare disease, but it is not exceptional because its frequency is about 1 case in 6,000 births. About 60,000 people are affected by the disease in Europe, about as much in the United States and probably more than two millions worldwide. TSC is one of most wide-spread rare diseases. As a comparison, prevalence (number of patients) of cystic fibrosis or haemophilia is almost twice lower than that of TSC.

Tuberous Sclerosis Complex remains little known by the public and, regrettably, very often by the medical community in general. The main reasons are that it has a large diversity of expressions, but also little exposure to the media in many countries. Tuberous Sclerosis remains a disease with complex mechanisms and the symptoms may vary between the individuals and their age.

Some patients will be slightly affected and will live an almost normal life; others, more heavily affected, will need all the support of their family to develop their capacities at best. Each individual affected by TSC has his own story.