May 15th marks TSC Day - a global awareness day for the condition Tuberous Sclerosis Comples.
Tuberous Sclerosis Complex (TSC) is a rare genetic condition which affects approximately 1 in 6000 people. There are approximately 700 people in Ireland today with TSC according to TSC Ireland - the national support group for people with TSC and their families.
TSC causes tumours or growths in the organs including the brain, eyes, kidney, lungs and heart. These tumours are usually not cancerous but the effects they can have vary greatly between people with TSC. Some people will have a mild from of the disease with barely noticeable symptoms. For others, the tumours can lead to a wide variety of medical problems.
Epilepsy is the most common medical problem in TSC affecting 90% of cases. When tumours cause epilepsy in a person with TSC the impact also varies between people who can experience a range of seizure types. Where seizures present before 1 year of age, one of the syndromes associated is Infantile Spasms (West Syndrome). In this regard early diagnosis and treatment of seizures when they emerge in early life is very important. Other types of seizures common in TSC are focal, myoclonic, atonic, tonic clonic and absences. In people with TSC seizures can become difficult to treat.
TSC may also lead to hydrocephalus, intellectual disability, autism, kidney and lung problems and skin abnormalities. In addition to these medical conditions there can be effects on behaviour and anxiety may be a problem. There is a wide spectrum of impact, from mild to severe, in terms of how symptoms will present. Although TSC is present from birth it may not be obvious from the outset and may only be diagnosed later as symptoms emerge.
TSC is caused by genetic mutations. These may be unique to the person or they may be inherited from an affected parent. There is no cure for TSC but the conditions it causes may be treated with a range of therapies including medication, surgery, or educational and behavioural supports.
Epilepsy Ireland are happy to support our colleagues and friends on TSC Day to raise awareness of this rare condition. For further information or support regarding TSC, please vist TSC Ireland's website or their facebook.