0345 121 8111

0345 121 8111

Mon - Fri 8:30am - 5:00pm

My Account

Register / Sign In
 

Your Basket

FREE UK delivery on all orders over £40*

You have no items in your shopping cart.

Navigation Menu

Tuberous Sclerosis

Everything you need to know about living well with tuberous sclerosis

  • Introduction
  • Symptoms
  • Treatments
  • Daily Living
  • Support
  • Glossary

Introduction

If you or someone you know has been given a diagnosis of tuberous sclerosis, this guide will help answer some of your questions and provide some other sources of information.

You may be wondering, what is tuberous sclerosis? Here, we will explore the condition in detail, including what causes tuberous sclerosis, what the symptoms of tuberous sclerosis are, options for treatments for tuberous sclerosis and tuberous sclerosis support available to you.

Any medical information provided here is for informational purposes and does not replace medical advice given to you by a medical professional. If you are concerned that you may have any of the tuberous sclerosis symptoms discussed below, please see your GP.

Introduction

What is 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.

What causes tuberous sclerosis?

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.

Did you know... “Every month around 10 babies are born in the UK with tuberous sclerosis.”

Symptoms of Tuberous Sclerosis

Read on to find out the symptoms that tuberous sclerosis causes.

Tuberous sclerosis symptoms are very varied. Tumours may grow in lots of areas of the body, and this differs from person to person. Depending on where the tumours are, further health conditions may develop. We cover some of these here, but not everybody with tuberous sclerosis will experience these!

Everyone experiences the condition differently and to different degrees. Some people have a mild case of the condition and may not even realise they have it for a long time. Sometimes, tumours may not cause any problems within the body. Other people though, will find that tuberous sclerosis affects their daily life and health more severely.

Introduction

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

• Brain/cognitive conditions e.g. epilepsy, learning disability, autism, anxiety, depression, hydrocephalus

• Skin conditions e.g. hypomelanotic macules, ungula fibromas

• Kidney conditions e.g. kidney disease

• Heart problems e.g. heart failure, arrhythmia

• Eye problems e.g. visual impairments, blindness

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.

Diagnosis of tuberous sclerosis

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.

Did you know... “Tuberous sclerosis is a lifelong, genetic condition that causes non-cancerous tumours to grow in the body and organs.”

Treatments for Tuberous Sclerosis

There is currently no cure for tuberous sclerosis, but there are sometimes ways to treat tumours to reduce their size if required, or to treat the other conditions they are causing.

Each person with tuberous sclerosis will need an individual tuberous sclerosis treatment plan. There is no “one-size-fits-all” solution, and treatment is likely to change over time. Tumours may develop throughout a person’s life. The main aim of treatment for tuberous sclerosis is to manage symptoms and maintain function in the organs that are affected. People with tuberous sclerosis have to have regular checks to monitor their condition, so that early treatment for potential problems where tumours are growing can be started.

Treatments

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:

Epilepsy – there are a range of epilepsy treatments including medications and surgeries. For more information, visit the Epilepsy Society website

Brain tumours – read more information about treatments for benign brain tumours

Skin problems – some people feel the skin conditions that tuberous sclerosis causes affect their self-esteem. There are some options such as laser therapy, which can improve the appearance of the skin

Kidney tumours – these are sometimes caused by high blood pressure, which can be treated with medication. Read more about kidney care and treatments here

Heart tumours – these are usually harmless and cause few problems. Some even go away on their own. Occasionally, people need to have surgery if the tumours are affecting how the heart works

Lung tumours – medication is usually given to shrink these tumours

Eye tumours – these rarely need treatment and do not very often cause sight problems, but sometimes a method called photocoagulation is used if the tumour is impacting upon vision

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

Did you know... “Tuberous sclerosis can cause other health conditions to develop, such as epilepsy, autism and kidney disease as well as skin conditions.”

Living with Tuberous Sclerosis

Here, we explore what it may be like for people living with tuberous sclerosis.

Tuberous sclerosis is a lifelong condition, and may affect a person’s life in lots of ways. Some people do live with the condition into adulthood, without a diagnosis. Others may be given a tuberous sclerosis diagnosis in childhood. Everyone will experience tuberous sclerosis symptoms differently, and it will affect their lives in different ways.

Read on to find out more about the changes and effects that tuberous sclerosis can have on daily life.

Introduction

Impact on daily living

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:

Autism caused by tuberous sclerosis: a child or adult with autism may present a host of behaviours that are challenging, and may find it difficult to deal with everyday social norms, expectations and communication

Epilepsy caused by tuberous sclerosis: symptoms may include seizures, which may be unpredictable and raise issues of safety, care, inability to drive, and so on

Skin conditions caused by tuberous sclerosis: may mean a person has problems with self-esteem and confidence, which can affect lots of areas of their life

Lung tumours caused by tuberous sclerosis: more common in women, these can cause breathing difficulties similar to chronic obstructive pulmonary disease (COPD). Breathlessness can lead to difficulty getting around and so on

Brain tumours caused by tuberous sclerosis: these can lead to lots of different symptoms and difficulties with day-to-day life. Depending on where the brain is affected, tumours can cause problems with speaking, eating, drinking, mobility, motor skills, thought processes and behaviour

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. Read more about issues related to having tuberous sclerosis as a child here.

Products for tuberous sclerosis

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 NRS Healthcare, we are experts in supplying daily living aids and below, we suggest which products may help with certain areas of daily life.

Mobility aids for getting around:

o Walking stick

o 3-wheel rollator

o Walking trolley

o 4-wheel rollator with a seat

o Transit wheelchair

o Attendant controlled wheelchair

Toileting, showering and bathing aids if mobility is an issue:

o Bath lift

o Bath step

o Bathroom rail

o Toilet frame

o Traditional commode

o Folding commode

o Shower stool

Sensory aids for autism and learning disabilities:

o Chew Toys

o Dark Den

o Visual Effects Sensory Bag

o Body Massage Bag

Safety devices:

o Simple SOS mobile phone

o Personal alarm

o Key safe

If you are unsure what tuberous sclerosis aids may help you, contact our Occupational Therapist product advice team by calling 0345 121 8111 or emailing productadvice@nrshealthcare.co.uk

Exercise for tuberous sclerosis

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.

Diet for tuberous sclerosis

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.

Tuberous sclerosis and employment

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.

Did you know... “Some people are diagnosed in childhood, whilst others may live for a long time without knowing they have the condition, or without symptoms.”

Tuberous Sclerosis Support

Remember – you are not alone!

We hope this guide to tuberous sclerosis has been helpful and informative. The condition is quite rare and, as such, it may sometimes feel as though nobody understands what the condition is, or that there is little support available. In this final section, we point you to lots of other sources of tuberous sclerosis support and information, which you may find useful. If you are affected by the condition, you may feel as though you wish to talk to other people who also have a tuberous sclerosis diagnosis, or who are caring for family members with the condition. We also include below some tuberous sclerosis help forums, where you can share experiences, stories and advice with other people in similar situations.

This guide to tuberous sclerosis is not intended to replace medical advice given to you by healthcare professionals. You should always contact your GP if you are concerned about any aspects of your health, or that of your family.

Introduction

Communities

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

Resources

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

Did you know... “There is a new treatment available called mTOR inhibitors available that can help reduce tumour growth.”

Glossary

Unsure what something means? Checkout our Glossary section below.

Although we always try to explain things as simply and as clearly as possible, sometimes it’s necessary to use the correct medical terminology. Medical terms are often known for being tricky to pronounce and if you’re not an expert in the subject, they can also be a little difficult to understand. Below, we’ve put together a list of terms used on this page along with a brief explanation of what they mean to help make your understanding of tuberous sclerosis as straightforward as possible.

Introduction

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


Last updated on 18/09/2018

Get the heads up on discounts and more

Be the first to receive top deals and blog-worthy news on independent living

It's in the bag!