What is TSC
Tuberous Sclerosis Complex (TSC) is a genetic disorder that causes tumors to form in many different organs. The organs mainly affected are the brain, eyes, heart, kidney, skin and lungs. The term TSC is used in scientific literature to distinguish Tuberous Sclerosis Complex from Tourette’s Syndrome.
TSC affects people differently, some severely, while others are so mildly affected that it often goes undiagnosed. Some people with TSC experience developmental delay, mental retardation and autism. On the other hand there are many people with TSC living independent, healthy lives who enjoy challenging professions such as doctors, lawyers, educators and researchers.
Current estimates place TSC affected births at 1 in 6,000. Nearly 1 million people worldwide are known to have TSC. It is estimated that approximately 700 people in Ireland, may be affected. There are many undiagnosed cases due to the obscurity of the disease and the mild form symptoms may take in some people.
Tuberous sclerosis complex is transmitted either through genetic inheritance or as a spontaneous genetic mutation. Children have a 50 percent chance of inheriting TSC if one of their parents has this condition. At this point, only one-third of TSC cases are known to be inherited. The other two-thirds are believed to be a result of spontaneous mutation. The cause of these mutations is still a mystery. People with mild cases of tuberous sclerosis complex can produce a child who is more severely affected. Some people are so mildly affected that they may only find out they also have TSC after their more severely affected child receives a diagnosis of TSC.