A genetic condition that affects around one in every 6,000 people in Ireland, and is responsible for conditions such as epilepsy and autism, is virtually unheard of here, experts have warned.

This lack of awareness and understanding means that those affected are not getting the level of care that they need.

Tuberous Sclerosis Complex (TSC) is a genetic condition which causes tumour growths to develop within the body. These growths can appear almost anywhere, although they are most commonly seen in the brain.

The condition is most commonly associated with epilepsy. In fact, 60-90% of people with TSC experience seizures at some point in their life. Those with TSC may also develop mental health, behavioural and learning problems, such as autism, attention deficit disorder and depression.

According to Ireland's national clinical lead for epilepsy, Dr Colin Doherty, who is also head of experimental research for epilepsy in Trinity College Dublin (TCD), it is generally accepted that TSC should be cared for in a multidisciplinary clinic, where different experts can come together to deliver appropriate care.

This method has allowed for ‘massive improvements in care and also the development of new research which has led to the first drug that can actually reduce the growth of tumours'.

"However in Ireland, the HSE has not reimbursed the drug because the lack of a cohesive multidisciplinary national service means that numbers of affected families and their needs remain invisible," Dr Doherty noted.

He pointed out that patients are getting care ‘from various services in an uncoordinated way and the burden on the health service remains unclear'.

In response to this, he is launching a research project to help those affected.

"Our research project in the Academic Unit of Neurology in Trinity will be a needs assessment of services for people and families with TSC, with the aim of developing a pathway of care and supporting the reimbursement of the first successful drug and other new emerging treatments for TSC," Dr Doherty explained.

Meanwhile, TCD is holding an awareness event on Friday (May 15) to mark TSC Global Awareness Day. Experts, including Prof Elizabeth Thiele, professor of neurology at Harvard Medical School in the US, will speak at the event, which will take place in the Stanley Quek Theatre, Trinity Biomedical Sciences Institute, 152-160 Pearse Street, Dublin 2, from 2-3.30pm.

This event is aimed at TSC patients, families and carers.