What is it like for siblings if their brother or sister has tuberous sclerosis (TSC)?

Lots of siblings get on really well with their brothers and sisters who have TSC. Other siblings can feel sad that their brothers and sisters can’t always play with them like other people do. They can also find it quite frightening if their brothers or sisters display behaviour that challenges because of their TSC. It can make them feel worried about what is going to happen next.

What causes TSC?

Each cell in your body contains thousands of little parts called genes. These are like blueprints, telling your body what it should be like – things like what colour skin, hair and eyes you have, how tall you are, whether you are a boy or girl, even whether you can curl your tongue into a tube. In TSC one of these genes is faulty. This is one which controls how the skin grows and also helps the body stop tubers growing. People are born with TSC, they cannot catch it. Sometimes it is because the mother or father has TSC, but sometimes it just happens. Some people with TSC may not know they have it, others will find out when new lumps grow, while some have problems from when they are born.

What does it mean?

The effect of TSC depends entirely on where the lumps grow. This might be on the skin and may be lumps, thick patches or areas of a different colour. They may not look nice, but hardly ever cause any other problems. They may grow on the heart and lungs. These don’t very often cause problems. Lumps in the heart of a baby may even get smaller as they grow older. Lumps in the lungs can sometimes cause a cough that doesn’t go away. They may grow in the kidneys,  the part of your body which helps get rid of anything you have eaten which is waste. So lumps here may make someone feel tired or generally unwell, or cause tummy aches and back pain. They may also grow in the brain and these can cause lots of problems such as epilepsy, learning disabilities, autistic behaviour and behaviour that challenges, headaches, dizziness, blurred sight, tiredness or feeling sick. Some people with TSC hardly know they have it, others have a serious disability.

What treatment is there?

TSC cannot be cured but doctors can help with some of the problems. They may:

• take pictures of the inside of the body (called MRI scans or CT scans) to find out where the lumps are
• do an operation to remove some lumps that are causing trouble
• test other family members to make sure they don’t have it as well

Information approved by the Tuberous Sclerosis Association March 2024