This section contains information about Tuberous Sclerosis Complex especially for newly diagnosed teenagers and adults.

If you live in the UK and would like more information after reading this page, or you simply wish to talk to someone, contact one of our Specialist Advisers. Click here to go the contact us page for all contact information.

What is Tuberous Sclerosis Complex (TSC)?

Most people have never heard of Tuberous Sclerosis. Even many doctors know very little about it. This section of the website has more information about living with TSC and, if you live in the UK, where you can go to get more information and support.

For general information about TSC, diagnosis, physical effects and genetics visit the Tuberous Sclerosis pages of this website.

TSC can be diagnosed at any time, usually depending on what signs and symptoms present. People with TSC have growths, sometimes called lesions, in organs of the body (eg. brain, heart, eyes, skin, kidneys, lungs). For some people, these growths may not cause any problems but for others they can result in specific problems in the functioning of one or more of the organs. As a result of the growths in the brain many people with TSC have epilepsy and some have learning and/or behaviour problems. However over half of people with TSC do not have learning disabilities. Most people affected by TSC will live a normal lifespan and any problems related to their condition will be monitored and managed by their doctors.

Living with Tuberous Sclerosis Complex

The effects of TSC brain growths
The presence of TSC brain growths in some individuals results in epilepsy and learning problems. However not everyone with TSC has epilepsy. Although epilepsy can start at any age, most people who have TSC and epilepsy start seizures in childhood. It is much less likely that someone will develop epilepsy for the first time in adulthood.

For some children who have TSC growths in the brain and epilepsy, their development and learning can be affected. However over half of people with TSC do not have learning difficulties and older children and adults without learning difficulties will not develop them later.

Some TSC related problems
Some people with TSC who have completely normal intellectual abilities find they have problems with some specific areas.
Memory - many people with TSC have memory-related problems. Difficulties with memory may be related to epilepsy, side effects of medication or underlying brain growths. Stress and anxiety can also affect memory.
Information processing and organisational skills - people with problems in this area may find it difficult to plan tasks and complete things on time or cope with changes in routines. Some of these difficulties are sometimes referred to as ‘executive control processing’ deficits.
Attention and concentration - ADHD (attention deficit hyperactivity disorder) is more common in people with TSC compared to the general population but even those with out ADHD may find themselves easily distracted, impulsive and fidgety.
Sleep problems - people with TSC may wake more often in the night and experience less efficient sleep.
Mood swings - people with TSC are more likely to experience mood swings including aggression and self harm.
Depression and anxiety - is more common in adults with TSC. This can range from mild symptoms of depression or anxiety to severe symptoms that may require mental health assessment and treatment.
Social skills - there are high rates of autism and Asperger’s syndrome in TSC. Some people with TSC find it difficult making and keeping friends, even if they may not have autism or Asperger’s.

It is often difficult to get help with these sorts of problems. Contact your TSA Specialist Adviser if your doctor is unable to help you or if you are uncertain about who may be able to help you. It can sometimes be helpful to talk to others with similar experiences. Click here to visit the website on-line discussion forum which is also an opportunity for people affected by TSC share experiences.

Medical care
Adults with TSC will be under the care of different doctors depending on which aspect of TSC affects them - dermatologists for skin treatment, kidney specialists for kidney problems, neurologists for epilepsy or psychiatrists for mental health problems. Children are under the care of a paediatrician who monitors them throughout their childhood and works with other specialists they may need to see from time to time. Regular monitoring is important to identify any potential problems.
The Tuberous Sclerosis Association (TSA) has published Clinical guidelines for the care of patients with TSC. Click here to download a copy: your doctor may find it helpful. There are a small number of specialist TSC clinics in the country and also a number of doctors with a particular interest in the condition. Your doctor can refer you to one of these specialists or seek their advice about particular problems. Click here for information about clinics.

Planning a family
TSC is a genetic disorder and an affected person has a 50/50 chance of passing it onto any child they may have. A blood test is available which may find the affected gene in an affected person. This information can be used to test a baby during pregnancy. However the test will only show whether the baby has the altered gene. There is no way of knowing whether a baby with TSC will grow up to be mildly affected like its parent or be more severely affected.

A new technique is now available called pre-implantation genetic diagnosis (PGD for short). Couples having this treatment conceive using IVF (in vitro fertilisation also known as test tube babies). The embryos are tested for TSC before being placed in the mother with only unaffected embryos being used. It is a relatively new technique so is not available everywhere and some or all of the costs may need to be paid for privately. Other options may be egg or sperm donation. If you are considering starting a family and would like advice ask your doctor to refer you to your regional genetics centre.

Pregnancy and TSC
Many women with TSC have a normal, healthy pregnancy but there are some potential health complications to be aware of. Women with kidney and lung problems may find that these conditions worsen during pregnancy so it is important to talk to your doctor before starting a family. Some anti-epilepsy drugs (AEDs) can affect the development of the unborn baby and some are not recommended if you plan to breast feed. Talk to your doctor before getting pregnant and s/he can change your AEDs to drugs that are safer for the baby. If your pregnancy is unplanned don’t stop taking your AEDs suddenly but talk to your doctor first.

Help and support

Because the effects of TSC are variable, the amount of support people may need is also variable. Some individuals with TSC don’t need any additional help while others do. Some people with TSC may experience difficulties with the following issues:

Education
Many people with TSC have no difficulties at school or college and gain qualifications and jobs, but some find that their TSC affects their learning (see above). In the UK young people with special educational needs and disabilities can get extra help at school and at college. Every school has a special needs co-ordinator (SENCO) who should be able to help. UK Careers and Connexions services can also help young people aged 13 to 19 (up to 25 for those with disabilities) with education and finding work. To find your local service call Connexions (England) 080 800 13 2 19 or click here to visit their website, Careers Wales on 0800 100 900 or click here for their website, Careers Scotland on 0845 8502 502, click here for their website, Careers Service N.Ireland on 028 9044 1781, click here for their website.

Employment
Some people with TSC may find it difficult to get and keep work. This is sometimes because of problems with epilepsy, poor health or mental health problems. In the UK it is unlawful for employers to discriminate against someone because of their disability. If you think you have been discriminated against the Equality and Human Rights Commission can give advice and help you make a complaint, phone 08457 6100 (England), 0845 8810 (Wales), 0845 5510 (Scotland).

Disability discrimination
Many individuals with TSC, living in the UK, will have rights under the Disability Discrimination Act 1995. It makes it unlawful for you to be discriminated against in employment, access to goods, facilities and services, buying and renting property and education. If you think you may have been discriminated against the Equality and Human Rights Commission can give advice and help you make a complaint, phone 0845 6100 (England), 0845 8810 (Wales), 0845 5510 (Scotland)

Travel
In the UK many adults with TSC-related conditions (such as epilepsy, autism or other disabilities) may be eligible to apply for a Disabled Person’s Travel Pass, which provides free access to public transport (buses, trains etc). The pass is generally issued to anyone who would be refused a driving licence on medical grounds. To find out if you are eligible, you will need to contact your local council, complete an application form and show how you meet the eligibility criteria. Contact your TSA Specialist Adviser for more information.

Insurance
People with medical conditions like TSC sometimes find it difficult to get reasonably priced travel and life insurance and can be refused cover. The TSA is unable to recommend specific insurance providers but keeps a list of UK specialist brokers who provide travel cover for people with pre-existing medical conditions. Click here for a copy of the list.

Financial Support
Disabled people and their carers in the UK may be entitled to extra benefits from the government. These include benefits like Disability Living Allowance and Carers Allowance and extra amounts added to Income Support and Tax Credits. Call the Benefit Enquiry Line on 0800 882200 for more information and to get application forms. Your local Citizen’s Advice (CAB) or Disability Advice Centre can help you fill them in. There are also trusts and charities that will fund special equipment and holidays. Contact your TSA Specialist Adviser for more information.

Support from the TSA
TSC is a complex condition that is very variable in the way it affects people. It can be difficult for individuals with TSC and their families to understand and come to terms with. If you live in the UK, the TSA is available to help. TSA Specialist Advisers can provide you with information, advice and support on the telephone, by email and through home visits. They can liaise with the professionals and organisations involved in your care to help you get the best service.

The Outlook Group
The TSA Outlook Group supports those adults with TSC who are relatively mildly affected and interested in contacting and developing friendships with other TSC adults across the UK. Outlook members work in a variety of everyday jobs and professional careers. Some have children themselves. Outlook provides an ‘extended sense of community’, confidence, support and friendships. It gives people the chance to speak to someone else who understands what living with TSC is all about. The group holds an annual weekend away and many members meet up informally throughout the year. Outlook’s motto is: ‘I may have TSC but TSC doesn’t have me!’

Click here for more information about the work of the TSA.

If you live in the UK and would like to talk to someone about anything you have read here or any issues this information has raised please click here to find your nearest Specialist Adviser.

A leaflet on this topic is also available. Click here to download in PDF format.

Page created by TSA staff June 2008 from text reviewed by Dr Chris Kingswood FRCP, Royal Sussex County Hospital, May 2008