Tuberous sclerosis is a life-long condition that requires life-long care and support from a range of different healthcare professionals.
An individual care plan will be drawn up to address any needs or problems that your child has. As your child gets older, the plan will be reassessed to accommodate changes to their needs or situation.
You and your child will also be assigned a key worker who will be your point of contact with the various support services that are available. While your child is young, the key worker is likely to be a health visitor. However, as your child gets older and their needs become more complex, the key worker is likely to be a social worker.
See the box to the left for more information about the healthcare professionals who may be involved in your or your child’s care.
Screening
Someone with tuberous sclerosis will require regular screening tests throughout their life. This is in order to regularly monitor and assess the functions of the organs that are most vulnerable to the condition, such as the brain, kidneys and lungs.
Types of screening tests may include:
- a magnetic resonance imaging (MRI) scan – to check for changes in tumours in the brain or kidneys
- an ultrasound scan – this may also be used to check the kidney tumours
- blood tests – to check how well the kidneys are working
- an echocardiogram – a test that uses sound waves to build up a picture of the heart
- spirometry – a test to measure how much air a person can breathe out, and to check the function of the lungs
How often these screening tests need to be carried out will depend on your or your child’s age and the type and range of symptoms.
Epilepsy
Epilepsy is a very common feature of tuberous sclerosis. A number of medications, known as anti-epileptic drugs (AEDs), have proved successful in preventing seizures in people with epilepsy.
Epilepsy medicines do not work as well for people with tuberous sclerosis, although many people with the condition can use them to control their seizures. If the first epilepsy medicine is not effective, the dose can be increased. You can also try a different medicine, or you may be prescribed two epilepsy medicines to take at once.
Surgery for epilepsy
If epilepsy medicines are not effective, surgery for epilepsy may be considered.
Epilepsy in people with tuberous sclerosis is thought to be caused by tumours in the brain (epileptogenic tubers). If a brain scan can identify these tumours, you can have surgery to remove them. This may be an effective treatment for your epilepsy.
This type of surgery tends to be more successful if there are just one or two brain tumours, rather than several. One study found that over two thirds of children were seizure-free after having surgery.
However, not everyone with tuberous sclerosis is suitable for surgery. In some cases, no brain tumours can be found to explain the epilepsy.
Vagus nerve stimulation
An alternative to surgery for epilepsy is a treatment called vagus nerve stimulation (VNS). VNS involves surgically implanting a small electrical device, which is similar to a pacemaker, under the skin near the collarbone.
The device has a lead that is wrapped around one of the nerves (the vagus nerve) in the left side of the neck. The device stimulates the nerve by passing a regular dose of electricity through it. This can reduce the frequency and severity of the seizures.
Also, if you feel the warning sign of a seizure coming on, you can activate an extra ‘burst’ of stimulation, which can often prevent the seizure from occurring.
It is not fully understood exactly how and why VNS works, but it is thought that stimulating the vagus nerve alters the chemical transmissions in the brain.
See the Heath A-Z topic about Epilepsy - treatment for more information about these treatments and others, such as the ketogenic diet.
Behavioural and learning problems
If your child is experiencing behavioural problems or has a learning disability, it is likely that they will be referred to a psychologist. They will assess your child’s learning ability and their likelihood of developing behavioural problems.
As part of the assessment process, a special educational needs plan may be drawn up. The plan is designed to provide the most effective type of education that will meet your child’s strengths and weaknesses.
Some children with tuberous sclerosis may also benefit from attending special educational centres. Others will be able to attend a mainstream school but may need extra support during lessons.
See the Live Well section about children with a learning disability for more information about living with a learning disability.
mTOR inhibitors
Tuberous sclerosis causes tumours to grow in different parts of your body. For the tumours to grow, certain chemical reactions have to take place. Medicines that interrupt or block these chemical reactions may therefore be able to prevent the tumours from growing.
New research is being carried out into medicines called mTOR inhibitors, which can block the chemical reaction that causes the tumours to grow. There are two mTOR inhibitors:
These have already been shown to shrink:
- angiomyolipomas (AMLs) – the tumours in the kidneys; they are made up of blood vessels, muscle and fat
- subependymal giant cell astrocytomas (SEGAs) – the tumours in the brain; this may mean that brain surgery would no longer be necessary
- lymphangioleiomyomatosis (LAM) – the tumours and cysts inside the lungs
The mTOR inhibitors are also being tested to see if they can treat:
- epilepsy
- problems in the brain to do with thinking and learning
- red skin lesions on the face
Explained below are treatments for the different types of tumours that tuberous sclerosis can cause.
Subependymal giant cell astrocytomas (SEGAs)
If one or more subependymal giant cell astrocytomas (SEGAs) are detected in the brain during routine screening, it may be necessary to surgically remove them. SEGAs are large benign (non-cancerous) brain tumours. If the SEGAs are not removed, they can cause a build-up of fluid on the brain (hydrocephalus).
Everolimus
Some research has found that everolimus, a type of mTOR inhibitor, can shrink SEGAs and allow them to cause seizures (fits) less often. This may reduce the need for brain surgery. More long-term studies are needed, but this may be a useful new treatment.
Skin lesions
Skin lesions do not usually present a serious health problem, but they can look unsightly and affect a person’s confidence and self-esteem.
Laser therapy can successfully treat skin lesions. It involves using a focused beam of light to remove the lesions. The lesions can sometimes return, so repeated laser therapy sessions may be required. Studies are now underway to test the effectiveness of the new mTOR inhibitors in treating skin rashes.
Heart tumours
In most cases, heart tumours will not need treatment. Heart tumours in babies often shrink as the child gets older, before disappearing altogether. However, in some rare cases, surgery may be required to remove the tumours if they begin to seriously affect the functioning of the heart.
Kidney tumours
If kidney tumours cause symptoms of high blood pressure (hypertension), medicine can be used to help lower it. See the Health A-Z topic about High blood pressure - treatment for more information.
If individual kidney tumours continue to grow larger than 3cm, they can cause dangerous bleeding. It may be possible to stop their growth using a process called embolisation.
Embolisation
Embolisation is designed to stop the blood supply to tumours.
During embolisation, the surgeon will insert a small tube, known as a catheter, into your groin at the top of your leg. They will use X-ray images to guide the catheter into the blood supply of your kidney.
A special substance will be injected through the catheter to block the blood supply to the tumour in your kidney. By blocking the blood supply the tumour will become starved of oxygen and nutrients, and it will shrink.
Following on from early successful trials, some worldwide studies are underway to assess the safety and effectiveness of mTOR inhibitors in shrinking kidney tumours.
Further kidney treatment
Very rarely, if you have a severe or total loss of kidney function, you may require:
Lung tumours
Women with multiple lung tumours who go on to develop lymphangioleiomyomatosis (LAM) will usually require medication. Until recently, some people were prescribed progesterone (a female sex hormone) because some people with LAM respond to this. However, this is no longer frequently used.
In more serious cases of LAM that lead to a collapsed lung, emergency surgery will be required to repair the lung. In very severe cases, a lung transplant may be required.
Sirolimus
New trials have just shown that a type of mTOR inhibitor called sirolimus can successfully halt the progression of LAM. After a year, women with LAM who had been taking sirolimus had:
- reduced symptoms
- improved quality of life
After the women stopped taking sirolimus, their lung function started to get worse again. Sirolimus can also cause a number of side effects, such as feeling sick, constipation or diarrhoea.
Sirolimus is not yet licensed to treat LAM (see box, right) and more research is needed before it becomes an established treatment. However, the early results look promising.
Eye tumours
Eye tumours rarely need any treatment because they do not usually grow big enough to impair your vision. In rare cases where eye tumours affect vision, they can be treated using a technique called photocoagulation.
Photocoagulation is a type of laser surgery that uses lasers to burn away the blood vessels that supply the eye tumours with blood. Blocking the blood supply should shrink the tumours.
