Tuberous sclerosis

‘Tuberous sclerosis complex’ is a genetic condition that causes tumours to grow in the body. These tumours are mostly always benign but the presence of the tumours in organs such as the brain, kidneys, heart, etc often leads to other health conditions, since these organs are unable to function as well as they should.

Tuberous sclerosis is present from birth, but may not cause symptoms until later in life, during childhood or adulthood.

It is quite rare, and only around 1 in every 6,000 people are born with the condition.

There is no cure for the condition but there are treatments for tuberous sclerosis available, depending upon where the tumours occur and what problems they are causing.

For more information on tuberous sclerosis, visit the NHS website.

Tuberous sclerosis is a genetic condition. This means that mutations (changes) in genes are what causes tuberous sclerosis to develop. The specific genes that are affected have been identified as the TSC1 or TSC2 genes, which are responsible for managing the growth of cells within the body. When TSC1/2 mutate, they do not control cell growth as they should, which leads to tumours developing throughout the body.

Mostly, the genetic mutation happens randomly. However, in 25% of cases, the mutated gene is inherited from one of the person’s parents. There are different levels of tuberous sclerosis. Sometimes, a person may have the gene plus a mild form of the condition and not even realise it, hence they pass it on to their child.

For more detailed information about the genetics of tuberous sclerosis, visit the Rare Diseases website.

Symptoms of tuberous sclerosis include tumours in the brain, skin, kidneys, heart, eyes and lungs which can lead to:

Tuberous sclerosis symptoms can cause lung tumours, which tends to happen more in women living with the condition, but surprisingly these often do not cause a problem.

For more information about tuberous sclerosis symptoms, download the Introduction to TSC leaflet from Tuberous Sclerosis Association.

Tuberous sclerosis may be diagnosed as a result of other conditions and symptoms of those conditions. For example, a child displaying symptoms of autism or learning disability who also has kidney problems may eventually be diagnosed with tuberous sclerosis.

If your doctors suspect you have tuberous sclerosis, they may refer you for scans and examinations to explore if you have tumours anywhere in the body. They may also conduct a genetic test to confirm their diagnosis.

It may be difficult to hear that you or your child has tuberous sclerosis. Genetic Disorders UK can offer support for tuberous sclerosis patients, through their UK helpline.

One type of drug, called mTOR inhibitors, can help reduce the growth of tumours and are a fairly new treatment for tuberous sclerosis. Read more about this drug here.

There are different treatments available for the various conditions that can arise as a result of tuberous sclerosis. Some of these conditions include:

For more information about tuberous sclerosis treatment, visit the NHS website.

People with tuberous sclerosis are likely to be able to live independently but will need medical care and attention throughout their lives to monitor their condition and growth of tumours. Some people report that it is difficult to live with a condition where they do not know how it will progress or develop. The condition can be life limiting, depending on its severity and what areas of the body are affected.

Some people who are affected severely by tumours, which may develop in the brain for example, will have a very different experience of tuberous sclerosis compared to other people with the same condition. Some people do require care to live independently.

If you are a parent or carer for a young person with tuberous sclerosis, you may have lots of concerns, worries and questions about how best to provide care whilst also looking after yourself. Carers Trust are a charity supporting unpaid carers, who provide information on money, benefits, carer assessments, health and wellbeing, laws and rights, and much more.

Some people find it helps to understand tuberous sclerosis if they hear other people’s stories and experiences. This US-based tuberous sclerosis charity provides videos of people who are affected by the condition, which may be of interest to you.

There are some aspects of daily life that may become difficult if you have tuberous sclerosis symptoms, or related conditions such as epilepsy or kidney problems.

These challenges differ so much from person to person, it is impossible to list all the potential symptoms, but here are some examples:

You may wish to seek an assessment and support from an Occupational Therapist, who may be able to look at the tasks you are having difficulty with and recommend ways to adapt these to make them easier for you. They may also be able to recommend daily living aids for tuberous sclerosis that may help undertake everyday tasks more easily. Read on to find out more about these products for tuberous sclerosis.

Young people affected by tuberous sclerosis may have special educational needs.

Here, we suggest some tuberous sclerosis aids that may help with daily activities, which may have become difficult due to tuberous sclerosis symptoms. Daily living aids are designed to make tasks easier. At Healthcare Pro, we are experts in supplying daily living aids and below, we suggest which products may help with certain areas of daily life.

If you would like to speak to one of our Occupational Therapists to find if there are any daily living aids that may help you or someone you care for, please email them productadvice@healthcarepro.co.uk or telephone 0345 121 8111.

It is important for a person with tuberous sclerosis to exercise regularly in order to help their organs and body function to the best of its ability. Exercise can help improve mood and wellbeing, which some people find are affected due to having a long term health condition. Exercise will help the heart, lungs and kidneys to function – which are often sites of tumour growth. Exercise will help reduce the risk of other conditions developing.

Many people are able to enjoy team sports or individual exercise. Remember that any activity counts, so walking, housework and dancing all count as ‘exercise’. Whilst tuberous sclerosis exercise may be limited for some people due to their symptoms or related health conditions, there may be ways to keep the muscles active and undertake movement.

A physiotherapist may be able to recommend a suitable programme of exercise for tuberous sclerosis patients – speak to your GP or specialist consultant to find out if you are eligible for a referral.

It is important for someone with tuberous sclerosis to eat a healthy, varied, balanced diet. This will help their general health and wellbeing and help reduce the risk of developing other conditions. For advice about eating a balanced diet, visit the NHS website.

Some people with tuberous sclerosis will be able to work and others will not. It depends entirely on how severe the condition is for each person, and how it affects their abilities and daily life. If you are unsure what your rights are as a person living with a long-term health condition who is either in employment, needs to find work or is unable to work, visit the Disability Rights UK website.

Rare Connect – an online community for people who have rare diseases, such as tuberous sclerosis, to share their experiences

Tuberous Sclerosis Alliance Facebook Group – this public group is open to people from around the world who wish to share information, support and advice about tuberous sclerosis

Epilepsy Society – a UK charity supporting people with epilepsy, with a website featuring lots of information about diagnosis, treatment and living with the condition as well as a variety of support options

Genetic Disorders UK – a charity funding research into genetic disorders as well as providing information about genetics

NHS – source of official UK medical advice and information about tuberous sclerosis and related conditions

Rare Disease UK – a charity campaigning for people with a rare condition

The National Autistic Society – the main UK charity supporting people with autism and their families, with information about the condition, an online forum and a range of services for home and education

Tuberous Sclerosis Association – the only UK charity dedicated to supporting people with the condition, providing information about symptoms, diagnosis, treatments, as well as local support groups and family days, and funding research projects

Arrhythmia

– irregular heartbeat i.e. slower or faster than it should be

Benign

– referring to a non-cancerous growth of cells, known as a tumour

Cells

– the materials in the body that create structures, organs, and keep us alive

Genes

– the building blocks of the body, which are passed to us by our parents through DNA

Heart failure

– serious heart condition where the heart is not strong enough to continue pumping blood

Hydrocephalus

– fluid build-up on the brain which can happen due to head injury, birth or illness

Hypomelanotic macules

– skin lesions that look like discoloured, light patches, caused by tuberous sclerosis

Inherited

– given genetically from one or both parents to their child

Photocoagulation

– a procedure using lasers to burn away blood vessels in the eye that are supplying tumours with blood in order to shrink the tumour

Tumours

– an abnormal mass of tissue in the body. In TSC, tumours are benign (non-cancerous)

Ungula fibromas

– lumps that appear on the skin, mostly around fingernails and toenails, as a symptom of tuberous sclerosis