Unless your family has been touched by Tuberous Sclerosis Complex (TSC), it’s possible you’ve never heard of this rare genetic disorder. Here’s what you should know about TSC and how you can help raise money and awareness to find a cure.
What is Tuberous Sclerosis Complex (TSC)?
Tuberous Sclerosis Complex (TSC) is a genetic disease that hinders the body’s ability to suppress tumor growth. As a result, a patient with TSC develops benign tumors throughout the body. Most commonly, tumors associated with TSC are found in the brain, heart and kidneys. But, TSC can also manifest itself on the skin, lungs, and eyes.
Although TSC tumors are generally benign, that doesn’t mean they don’t cause problems for patients:
TSC tumors in the brain cause seizures, developmental delays, behavioral issues and autism. Seizures occur in about 85% of patients with TSC. They’re caused by benign tumors in the brain. Three types of brain lesions are seen in TSC:
- Cortical tubers, for which the disease is named, means multiple tumors on the surface of the brain. These tumors make it more likely a patient will develop epilepsy.
- Subependymal nodules and subependymal giant-cell astrocytomas (SEGA) are tumors in the walls of the ventricles (fluid-filled cavities of the brain). Despite being considered benign, SEGA may grow and block the flow of cerebrospinal fluid in the brain. This can cause a buildup of fluid and increased intracranial pressure – a serious medical condition.
Cardiac tumors, called rhabdomyomas, are seen early in life and are usually detected by routine fetal ultrasound during pregnancy. They can block blood flow in the heart, or produce abnormal heart rhythms and can lead to heart failure. Interestingly, these tumors are largest at birth, usually become smaller with time and don’t cause problems later in life.
TSC affects the kidneys by causing cysts and benign tumors called angiomyolipoma. As these tumors grow, they can cause pain, kidney failure and a risk for hemorrhage. Very rarely, a malignant tumor – called a renal cell carcinoma – may occur.
It’s quite common for TSC to manifest on the skin – and this often helps us diagnose the disease. The disease causes a wide variety of skin changes, including white patches called “ash leaf spots” that can appear anywhere on the body, reddish spots or bumps called facial angiofibromas on the face (sometimes resembling acne) and areas of thick leathery, pebbly skin called “shagreen patches,” usually on the lower back or neck. Other skin manifestations include benign tumors around or under nails, skin tags and “café au lait” spots.
How is TSC diagnosed?
In some cases, tumors of the heart and brain are discovered through routine ultrasounds during pregnancy. Other times, TSC is suspected in children who have seizures (especially infantile spasms) and also have white spots on the skin.
Your child’s doctor will study his clinical history and perform a physical exam that could show the skin abnormalities mentioned above. The doctor will also order imaging studies like an ultrasound to detect tumors in the heart and kidneys, or brain MRI to find tubers in the brain. A careful eye exam may show characteristic retinal lesions.
Is there a cure?
Currently, there isn’t a cure for TSC. But, we have many tools to help improve quality of life and prevent complications. We use antiepileptic medications to reduce or control seizures. In some people, specific medications can be used to shrink a tumor, if appropriate, so it has less impact on everyday life. Sometimes, surgery to remove tumors is a patient’s best option.
Early intervention services like physical, occupational and speech therapies can help children experiencing developmental delays learn the skills they need to thrive and be the best they can be.
Routine diagnostic imaging – such as MRIs, CT scans and x-rays – help doctors track tumor growth and a patient’s overall health and well-being.
What can you do?
First and foremost, if you know a family living with TSC, be there for them. TSC can cause mild impairment – and a patient lives a typical, productive life. Or, it can cause severe cognitive impairment and seizures which are difficult to control. Families have so much to learn and adapt to, not to mention juggling the myriad of specialties involved in their child’s care.
Our support of these families – and researchers working find an effective cure – is essential. Offer them a hand to help or a shoulder to lean on. Be part of a compassionate support network.
Become an advocate for the almost 50,000 Americans with Tuberous Sclerosis Complex. Contact your elected officials and encourage them to support research. Or simply join the Swedish Pediatric Neuroscience Center’s team at Step Forward to Cure TSC on Sunday, October 11, at Magnuson Park in Seattle. Join a team, donate to our team or come out to cheer us on!