Tuberous sclerosis complex (TSC) in children

If you have tuberous sclerosis complex (TSC), your cells won't stop dividing when they should. This means that you have tumors in many places in your body. They are not cancer, but they can cause problems where they grow. There are treatments that can reduce swelling and make you more comfortable.

Each case is individual. You can have TSC in some parts of the body, and TSC can affect someone differently. Tumors can look like thick or clear patches on the skin, and if they are in the lungs, they can cause breathing problems.

Treatment can help you manage your symptoms and live an independent life.

Between 1 and 2 million people worldwide suffer from this disease.

Causes

You got TSC because of a gene problem. For most people, this is caused by changes that happened when your cells first came together or when you were just an embryo.

About a third of people inherit TSC from their parents. If one of your parents has it, you have a 50% chance of getting it.

Symptoms

Symptoms usually appear early, shortly after birth. But they may appear later in life.

Your symptoms depend on how many tumors you have, their size and location. When you have tuberous sclerosis, all of this can change throughout your life.

Tumors in the kidney can prevent it from working properly. They can also cause bleeding inside your body or high blood pressure.

Tumors in your heart usually appear when you are young and shrink over time. But they can block blood flow or cause heart rhythm problems.

Lung tumors can cause shortness of breath even after light exercise. They can also cause coughing or collapse of the lungs.

Tumors in the brain can cause:

Seizures, which can be mild at first
Behavior changes, such as temper tantrums, anxiety, or sleep problems
Nausea or headaches
Problems such as autism and developmental delays

Tumors in your eyes can cause you to see double vision or blurred vision.

Elsewhere on your body, you may have patches of skin of different colors and dark or light growths that may look like warts.

In the mouth, TSC can weaken tooth enamel or cause gum growth.

Getting a diagnosis

With so many different symptoms, diagnosing this condition can be difficult.

Your doctor will talk to you before doing any tests, asking you questions such as:

What did you notice that brought you here today? When did it start?
Have you had seizures? If so, what happens? How long do they last? How often?
How often do you have headaches? How bad are they?
Does anyone else in your family have seizures or epilepsy?
Does anyone in your family have TSC?

Your doctor may check your eyes and skin and ask you to take imaging tests. These may include:

A computerized tomography scan. This series of x-rays creates detailed images of your body to look for tumors and other disease-related changes.

Magnetic resonance imaging. This provides a more detailed image than a CT scan. Magnetic resonance imaging can show how blood and cerebrospinal fluid flow and can help pinpoint the location of tumors and other changes. The doctor may inject dye to make certain types of tissue look different on the x-ray. This helps them see changes faster and more clearly.

Echocardiogram - ultrasound of the heart. It shows tumors and other changes in the heart.

Gene tests taken from a blood sample can also confirm that you have tuberous sclerosis.

How fast might the tumors grow?
How do the tumors cause the symptoms?
How might my symptoms change over time?
What treatments are available? What are the possible complications from those treatments?
When do I need to go to the emergency room?
Should the rest of my family be tested?
If I have another baby (or if my child has a child), what are the chances that the baby will have TSC?
Is there a local support network for families affected by this condition?

Treatment

Your treatment will depend on your specific case. Doctors target places where tumors grow.

If TSC affects your kidneys, doctors may block or reduce blood flow to kidney tumors or give you medicine to help shrink them. You may need surgery to remove tumors. At some point, you may also need dialysis or a kidney transplant.

If you have brain tumors, sometimes drugs can shrink them or surgeons can remove them.

When a child with seizures is treated, it helps their brain develop and they can learn better.

Some people with lung problems due to TSC take the drug sirolimus, which affects your immune system.

Laser treatment (dermabrasion) can help "renew" or smooth the skin before tumor growth.

Taking care of yourself

Having a condition like TSC can be difficult, so find ways to reduce stress and keep doing what you love. If your child has tuberous sclerosis, remember that he is still young. Let him be a child.

Pay close attention to changes in your body and talk to your doctor about them. Keep track of your treatment and visit your doctor regularly to keep him informed of anything that worries you.

Talk to family and friends about the illness. They will want to know how they can help you. Ask him what you need, because he may not know what is most useful for you.

Joining a support group can help you cope better. Hearing from other people and families facing similar challenges can help you understand what's going on and feel connected. They can also give advice on managing symptoms.

If you're feeling overwhelmed or overwhelmed, ask your doctor if they can recommend a therapist or counselor who can help you.