Are you getting lumps all over your body? Let's talk about Tuberous Sclerosis Complex (TSC)

You may have been scared when you suddenly noticed a few light-colored spots on your little one's body. Or you may have been worried about a symptom like a seizure that came on for no reason. These can sometimes be symptoms of a less-common condition called Tuberous Sclerosis Complex (TSC). First of all, don't panic. Once you have a clear understanding of this, you can live successfully with this condition. Let's talk about everything in simple terms.

Simply put, what is Tuberous Sclerosis Complex (TSC)?

Think of it this way: the cells in our bodies are like workers at work. They divide and grow when they need to, and then stop dividing when they're done. But in someone with TSC, there's a small defect in the process that controls these cell divisions. So, instead of stopping where they're supposed to, the cells keep dividing.

When cells divide uncontrollably in this way, tumors form in various parts of the body, for example, in the brain, kidneys , heart , lungs , skin, and eyes. The most important thing you need to know here is that these tumors are not cancer . But they can cause various problems depending on where they form. About a million to two million people around the world live with this condition. The good news is that there are good treatments today to control these symptoms and shrink the tumors.

What is the specific cause of TSC?

The main reason for this is a change (mutation) in our genes . This can happen in two ways.

1. Random genetic change: For most people, about two-thirds, TSC is not inherited. It can be caused by a random change in genes when the mother and father's cells come together to form a baby, or when the baby is developing as an embryo.

2. Inheritance from parents: About one-third of people inherit the disease from their parents. If one parent has TSC, their child has a 50% chance of developing the disease.

What are the symptoms? Are they the same for everyone?

No. The symptoms of TSC vary greatly from person to person. And these symptoms can change over time. Some people start showing symptoms almost immediately after birth. For others, they may appear later in life. Symptoms depend on the location, size, and number of tumors.

To make it easier to understand, let's see how this affects different parts of the body.

How does the doctor diagnose this disease exactly?

Because the symptoms of this disease are so varied, it can sometimes be a little complicated to diagnose. Your doctor will first talk to you carefully and ask you about the details. For example:

• What was the first difference you noticed? When did it start?
• Have you or your child ever had a seizure ? What happens when it happens? How long has it been?
• How often do you get headaches?
• Does anyone else in the family have seizures or TSC?

After that, the doctor will examine your skin and eyes and refer you for several more tests if necessary.

• CT Scan : A series of X-rays are used to take detailed pictures of the inside of the body. This can help find tumors.
• MRI Scan: This can produce clearer, more detailed images than a CT scan. It can even look at the fluid flow in the brain and spinal cord. Sometimes a special dye is injected to make the images clearer.
• Echocardiogram: This is an ultrasound test of the heart. It can check for tumors and other changes in the heart.
• Gene tests: This test, which is done on a blood sample, can definitively confirm whether you have TSC.

What are the treatment options?

Treatment depends on your symptoms and the location of the tumors. The main goal of doctors is to control your symptoms and help you live a comfortable life.

• For the kidneys: Medicines (such as `everolimus`) are given to block the blood supply to the kidney tumors or to shrink them. Sometimes the tumors may need to be removed surgically. In severe cases, dialysis or a kidney transplant may be necessary.
• For the brain: Some tumors in the brain can be made smaller with medication. There are special medications to control seizures. Some tumors are removed surgically. When a child's seizures are treated early, it can greatly help their brain development and learning ability.
• For the lungs: Some people with lung problems are given drugs that affect the immune system, such as sirolimus.
• For the skin: Skin bumps and blemishes can be smoothed out with things like laser treatment (dermabrasion) before they get bigger.

Things you should be aware of when living with TSC

Living with a chronic condition like this can be mentally challenging, but if managed properly, you can lead a successful life.

• Take care of yourself: Pay close attention to changes in your body. Tell your doctor immediately about any new symptoms. Take your medications on time and don't miss your doctor's appointments.
• Be prepared for an emergency: Talk to your doctor to be clear about what to do in an emergency and when to go to the ETU (Emergency Treatment Unit) .
• Let your child be a child: If your child has TSC, don't forget that they are still a child. Create an environment where they can play, learn, and be happy.
• Support from family and friends: Talk to your family and close friends about this situation. Ask them how they can help you.
• Mental health: It's normal to feel stressed and sad at times. If you feel this way, don't hesitate to seek help from a counselor.

Although there is still no complete cure for TSC, with proper treatment and management, most people with the condition can live a normal, active, and independent life.