Embarrassing Illnesses

Tuberous sclerosis is a life-long chronic condition that requires life-long care and support from a range of different health professionals.

An individual care plan will be drawn up in order to address any needs or problems your child has. As your child gets older, the plan will continually be reassessed in order to accommodate changes to their needs and situation.

You and your child will also be assigned a keyworker, who will be the contact point between yourself and the various support services that are available. While your child is young, the keyworker is likely to be a health visitor. As your child gets older and their needs become more complex, it is likely that the keyworker will be a social worker.

Screening

If your child is born with tuberous sclerosis, they will require regular screening tests. This is so that the functions of the organs that are known to be most vulnerable to the condition, such as the brain, kidneys and lungs, can be regularly monitored and assessed.

Types of screening tests include:

• A magnetic resonance imaging (MRI) scan: to check the function of the brain.
• An ultrasound scan: to check the function and state of the kidneys.
• An echocardiogram: a test that uses sound waves to build up a picture of the heart.
• Spirometry: to measure how much air a person can breathe out. It is also used to check the function of the lungs.

How often these screening tests will need to be done will depend on your child’s age and the type and range of their symptoms.

Treating symptoms of tuberous sclerosis

Although there is no cure for the underlying causes of tuberous sclerosis, many of the symptoms can be controlled.

Epilepsy

There are number of medications, known as anti-epileptic drugs (AEDs), which have proved successful in preventing seizures in people with epilepsy.

Unfortunately, AEDs do not seem to work as well for people with tuberous sclerosis, and many of them will continue to have seizures despite taking a combination of AEDs.

Surgery for epilepsy may be recommended if your child continues to have frequent seizures despite taking AEDs. Before having surgery, your child may have a scan to see if there are tumours present that could be causing the seizures. These epilepsy-causing tumours are known as epileptogenic tubers.

If an epileptogenic tuber is found, it can be surgically removed. This type of surgery tends to be reasonably successful. A study that looked at 170 people with tuberous sclerosis, who underwent surgery for epilepsy, found that 57% were free of seizures following surgery. A further 18% experienced a 90% reduction in the frequency of their seizures.

However, not all people with tuberous sclerosis are suitable for surgery. In some cases, no epileptogenic tuber can be found to explain the person’s 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 your child’s skin, near to their collarbone.

The device has a lead that is wrapped around one of the nerves (the vagus nerve) in the left side of your child’s neck. The device stimulates the nerve by passing a regular dose of electricity through it. This can help to reduce the frequency and severity of the seizures.

If your child feels a seizure coming on, they can also activate an extra ‘burst’ of stimulation that can sometimes prevent the seizure from occurring.

It is still not fully understood exactly how and why VNS works. It is thought that stimulating the vagus nerve alters the chemical transmissions in the brain.

Behavioural and learning difficulties

If your child is experiencing behavioural or learning difficulties, it is likely that they will be referred to a psychologist who will assess their learning ability and whether they are likely to develop any 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 both your child’s strengths and weaknesses.

Some children with tuberous sclerosis may benefit from attending special educational centres. Others will be able to attend a mainstream school but may require some extra support during lessons.

Subependymal giant cell astrocytomas (SEGAs)

If one or more subependymal giant cell astrocytomas (SEGAs) is detected in your child’s brain during routine screening, it may be necessary to surgically remove them in order to prevent hydrocephalus from developing.

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 has proved successful for the treatment of 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.

Heart tumours

In most cases, heart tumours will not need any treatment. As your child gets older, the tumours will usually shrink before disappearing altogether. In some rare cases, surgery may be required in order to remove tumours if they begin to seriously affect the functioning of the heart.

Kidney tumours

If kidney tumours lead to symptoms of high blood pressure (hypertension), medicine can be used to help lower it.

If multiple kidney tumours begin to seriously affect the functioning of the kidney, it may be possible to stop or slow their growth using a process called embolisation. Embolisation is designed to stop the supply of blood to any tumours.

During an embolisation, the surgeon uses an X-ray camera to guide a wire into a blood vessel, before passing a coil down the wire in order to block the blood vessel.

Very rarely, dialysis or a kidney transplant may be required if a person suffers a severe or total loss of kidney function.

Lung tumours

Women with multiple lung tumours, who go on to develop lymphangioleiomyomatosis (LAM), will usually require an inhaler to assist them with their breathing. The inhalers are similar to those that are used to treat asthma.

In more serious cases of LAM that lead to a collapsed lung, emergency surgery will be required to repair the lung.

Eye tumours

Eye tumours rarely require any treatment because they usually do not grow big enough to impair a person’s vision. In the rare cases where eye tumours do begin to impair 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 supplying the eye tumours with blood. Blocking the blood supply should shrink the tumours.