What Is Tuberous Sclerosis?
If you have tuberous sclerosis complex (TSC), your cells don’t stop dividing when they should. This means you get tumors in lots of places in your body. They aren’t cancer, but they can cause problems where they’re growing. There are treatments available that can shrink the tumors and make you more comfortable.
Every case is different. You might get TSC in certain parts of your body, and TSC might affect someone else differently. The tumors can look like thick or light patches on your skin, and if they're in your lungs, they can cause breathing problems.
Treatments can help you manage your symptoms and live an independent life.
Between 1 million and 2 million people around the world have this condition.
You get TSC because of a problem in your genes. For most people, it’s caused by changes that happened when your cells were first coming together or when you were just an embryo.
About a third of people inherit TSC from a parent. If one of your parents has it, you have a 50% chance of getting it.
Symptoms usually show up early, shortly after birth. But they can also appear later in life.
Your symptoms depend on how many tumors you have, how big they are, and where they are. When you have TSC, all of that can change throughout your life.
Tumors in your brain could 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
In other places in your body, you may have patches of different color skin and dark or light growths that might look like warts.
Getting a Diagnosis
With so many different symptoms, diagnosing this condition can be tricky.
Your doctor will talk with you before doing any testing, asking 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, as well as ask you to get imaging tests. These can include:
- A CT scan. This series of X-rays creates detailed pictures of your body to check for tumors and other changes related to the disease.
- An MRI. This makes a more detailed image than CT. An MRI scan can show how blood and spinal fluid are flowing, and can help pinpoint locations of tumors and other changes. The doctor may inject a dye to make certain kinds of tissue look different in the image. That helps them see changes faster and clearer.
- An echocardiogram is an ultrasound test of the heart. It shows tumors and other changes in the heart.
- Gene tests, done from a blood sample, can also confirm that you have TSC.
Questions for Your Doctor
- 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?
Your treatment will depend on your particular case. Doctors target the places where the tumors are growing.
If TSC is affecting your kidneys, doctors may be able to block or reduce blood flow to kidney tumors, or give you drugs to help shrink them. You may need surgery to remove the tumors. At some point, you may also need dialysis or a kidney transplant.
If you have tumors in your brain, sometimes drugs can shrink them, or surgeons can remove them.
The drug Afinitor (everolimus) is approved by the FDA to treat specific types of brain and kidney tumors caused by TSC, too.
When a child with seizures gets treated, it helps their brain develop, and they can learn better.
Some people with lung problems from TSC take the drug sirolimus, which works on your immune system.
Laser treatment (dermabrasion) can help "refinish," or smooth your skin before tumors become large.
Taking Care of Yourself
Having a disease like TSC can be tough, so find ways to reduce your stress and keep doing the things you love. If your child has TSC, remember they're still a little one. Let them be a child.
Pay close attention to changes in your body, and tell your doctor about them. Keep up with your treatment, and make regular visits to your doctor, letting them know about anything that concerns you.
Talk with your family and friends about the condition. They'll want to know how they can support you. Ask them for things you need, as they may not know what's most helpful for you.
Joining a support group can help you manage better. Hearing from other people and families who face similar challenges can help you understand what's going on and make you feel connected. They can also offer tips for dealing with symptoms.
If you feel overwhelmed or depressed, ask your doctor if they can recommend a therapist or counselor who can help you.
What to Expect
Although there isn’t a cure for TSC, your doctors can help you avoid problems.
With the right treatments, most people with TSC can expect a normal life span. Many have active, productive, independent lives.
The National Organization for Rare Diseases or the Tuberous Sclerosis Alliance can help you find a TSC clinic and an online or local support group.