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It is estimated that about 50,000 people in the United States and one million worldwide have TSC. About 1 in 6,000 children are born with the disease each year.
TSC is caused by a change (pathogenic variant) in either the TSC1 or TSC2 gene. Scientists believe that these genes work together to suppress abnormal growth of cells. When a copy of one of the genes is altered, tumors and other abnormal tissues can grow in a number of different organs. Researchers have found that these genes also affect how brain cells grow, migrate, and connect with each other, which may be why children with the condition may have developmental and behavioral difficulties and seizures.
Most children with TSC live active, productive lives and have a normal life expectancy. Many of the complications associated with TSC can be managed effectively if caught and treated early. This makes it important for your child to be followed by a physician throughout his or her life.
There’s no simple answer, since each child is affected very differently by TSC. Many children do have some type of developmental delay, learning disability or behavioral problems. Autism spectrum disorder (ASD) is one of the most common developmental disorders seen in children with TSC, affecting about 50 percent of patients.
Early diagnosis and therapy can be very helpful to children with developmental difficulties. Therefore, your child’s medical team will watch his or her development closely. Talk with your doctor if you have any concerns about your child’s development or behavior.
TSC can affect people in different ways at different times in their lives. Some of the symptoms may get better as your child grows. For example, epilepsy often resolves or is well-controlled, and heart tumors usually shrink or disappear completely as children get older. However, kidney or brain tumors can often grow into adulthood and they can sometimes cause serious problems that require treatment. TSC can affect individuals at any point in their lives, which makes it important for your child to be monitored closely throughout his or her life.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”