Tuberous sclerosis is a lifelong condition that requires long-term care and support from a range of different healthcare professionals.
If your child is affected, an individual care plan will be drawn up to address any needs or problems they have. As your child gets older, the plan will be reassessed to accommodate changes to their needs or situation.
Their care plan is likely to include details about any treatment or support they need, as well as the routine tests that will be necessary to monitor their condition.
Read on to learn about how tuberous sclerosis is monitored and some of the treatments available.
Monitoring the condition
Regular testing is important for people with tuberous sclerosis. This is so the function of the organs often affected by the condition – such as the brain, kidneys and lungs – can be regularly monitored and assessed.
Tests and checks that may be recommended include:
- magnetic resonance imaging (MRI) scans to check for changes in tumours in the brain or kidneys
- ultrasound scans to check for heart and kidney tumours
- blood tests to check how well the kidneys are working and other things, such as vitamin D levels
- electrocardiograms (ECGs) to detect abnormal electrical activity in the heart
- computerised tomography (CT) scans to check the function of the lungs, such as measuring how much air a person can breathe out
- skin and eye examinations to look for any changes
- blood pressure measurements
- questions about your child’s behaviour and development
How often these tests are needed will depend on your or your child's age and the symptoms they have. Some are carried out annually, while others are done once every few years.
Epilepsy is a very common feature of tuberous sclerosis and can sometimes be difficult to control.
Medications to control the seizures (anti-epileptic drugs) will usually be tried first, although they're not always effective for people with tuberous sclerosis.
If the first medicine isn't effective, the dose can be increased. You can also try a different medicine, or you may be prescribed two medicines to take at once.
If medication doesn't control the seizures, one of the following procedures may be recommended:
- surgery to remove any tumours in your brain that may be causing the seizures
- vagus nerve stimulation (VNS) – where a small electrical device is implanted under the skin to send pulses of electricity to the brain
- a special diet (the ketogenic diet or a modified version of it)
Read about treatments for epilepsy for more information.
Behavioural and learning problems
If your child is experiencing behavioural problems or has a learning disability, they may be referred to a psychologist for an assessment.
A special educational needs plan may be drawn up to outline any extra educational support your child may require.
For some children, it may be possible for extra support to be given at a mainstream school, while others may benefit from attending a special school.
Read more about children with a learning disability and special educational needs.
Any brain tumours will be detected and monitored closely, so that treatment can be carried out if necessary.
A brain tumour may need to be surgically removed if there's a risk it could get too big and cause a build-up of fluid on the brain (hydrocephalus).
Research has also found that a medication called everolimus shrinks most brain tumours, preventing them from causing hydrocephalus and potentially improving epilepsy as well.
Everolimus is a type of mTOR inhibitor, which interrupts or blocks the chemical reactions needed for tumours to grow. They are a useful new treatment for some of the problems caused by tuberous sclerosis. Long-term studies carried out over several years have shown them to be very effective, and even longer-term studies are under way.
Abnormal growths or patches of skin don't usually present a serious health problem, but their appearance can affect a person's confidence and self-esteem.
Laser therapy can be used to improve the appearance of the skin if necessary. If the growths or patches return, repeated laser therapy may be required. Using sun cream is also important to protect the skin.
Research has shown the effectiveness of mTOR inhibitor cream in treating skin abnormalities caused by tuberous sclerosis. The rash also usually shows significant improvement in those taking mTOR inhibitors as tablets for their kidneys or brain tumours.
Treatment for kidney tumours and growths will depend on the problems they cause.
For example, if kidney tumours cause high blood pressure (hypertension), medicine can be used to help lower it. Read more about treating high blood pressure.
Everolimus may be used to stop tumours becoming too large, as large tumours can cause dangerous bleeding. However, as this is a relatively new treatment, the long-term effects are not yet fully known.
If a tumour bleeds, a procedure called embolisation may be recommended. A special substance is injected into the tumour to block its blood supply, which starves it of oxygen and nutrients, causing it to shrink.
Very rarely, if you have a severe or total loss of kidney function, you may require dialysis or a kidney transplant.
In most cases, heart tumours will not need treatment. Heart tumours in babies usually shrink as the child gets older, until they are barely detectable as adults.
However, in some rare cases, surgery may be required to remove the tumours if they begin to seriously affect the functioning of the heart.
Sometimes, the heart tumours affect the electrical conduction on the heart and cause abnormal heart rhythms. These problems occasionally need treatment with medication.
Women with lung tumours may require medication to shrink the tumours.
Research has shown that a mTOR inhibitor called sirolimus is effective, although it can cause side effects such as feeling sick and constipation or diarrhoea. It’s available to treat lung tumours caused by tuberous sclerosis through the National LAM Centre at the University Hospital of Nottingham.
If lung tumours lead to a collapsed lung, emergency surgery is required to repair the lung and drain any air that has escaped into the chest.
In very severe cases, a lung transplant may be required.
Eye tumours rarely need any treatment, because they don't usually grow big enough to impair vision. In rare cases, where vision is affected, a technique called photocoagulation can be used.
Photocoagulation is a type of laser surgery that uses lasers to burn away the blood vessels supplying the eye tumours with blood. Blocking the blood supply should shrink the tumours.