Tuberous sclerosis complex (TSC), is a rare genetic disease that causes non-cancerous (benign) tumors to grow in different areas of the body, most commonly the brain, kidneys, skin, heart, and lungs. The name tuberous sclerosis comes from the characteristic tuber or potato-like nodules in the brain, which are affected by calcium with age and become hard or sclerotic.
TSC is a lifelong condition. Currently there is no cure for TSC, but some symptoms can be treated. The prognosis for individuals with TSC is highly variable and depends on the severity of symptoms. Some people with TSC are able to lead independent, productive lives, while others have symptoms that can affect everyday life and even be life-threatening.
TSC affects people differently, some severely, while others are so mildly affected that it often goes undiagnosed. Some people with TSC experience developmental delay, intellectual disability and autism. On the other hand there are many people with TSC living independent, healthy lives who enjoy successful careers.
Current estimates are that 1 in 6,000 babies are born with TSC. 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 symptoms that occur 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 may have 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.
It’s important to understand that different aspects of TSC affect an individual’s life at different times. For example, you may be concerned about the heart tumours in a newborn baby who has just been diagnosed with TSC, but a person in his or her 40s may be more concerned about the kidney tumours.
We are raising funds to help provide information and support to Patients, Families and Carers affected by Tuberous Sclerosis Complex.
We also want to encourage and support research into the causes and new treatments, as well as improve awareness of this rare condition within the healthcare system and advocate for improved, more co-ordinated and evidence based care .