Cortical tubers are ‘disorganised’ areas of the brain that contain abnormal cells. Some people living with TSC might have one or multiple tubers, whereas others could have none.

Cortical Tubers are thought to be one of the reasons why people living with TSC develop epilepsy. No new tubers grow following birth, with tubers developing during pregnancy.

It was previously believed that the number, size and position of a person’s cortical tubers, in combination with the kind of seizures they experienced, could influence the likelihood of an individual also having learning difficulties, developmental delay and mental health problems. However, we now know that genetic changes caused by TSC can directly lead to these issues, rather than tubers and seizure type only

SENs are small accumulations of cells (around 1cm in diameter) located in spaces around the brain that contain fluid. As a SEN grows, it might become large enough to block the normal flow of fluid in the brain, causing it to build-up. Fluid build-up on the brain can be serious and surgery could be necessary, often to implant a shunt – a thin tube connected to the brain that drains excess fluid.

SEGAs are non-cancerous brain tumours that around 15 out of every 100 people living with TSC will develop. It is possible for SEGAs to cause no issues, but SEGAs may also stop the flow of fluid in the brain, causing it to build-up (see SEN above). New or growing SEGAs can also lead to neurological problems or TSC-associated neuropsychiatric disorders (TAND), such as autism or depression.

SEGAs do not usually grow until later early-to-late teenage years or young adulthood, with SEGAs rarely growing once a person is in their mid-20s.

Treatment for SEGAs include surgery, or in certain circumstances it may be possible to shrink the growth through drug treatment