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Tuberous Sclerosis Complex
Because tuberous sclerosis complex (TSC) is a lifelong condition, it is important for all individuals with the disorder to be followed medically from infancy through old age.
A tuberous sclerosis complex (TSC) diagnosis prompts many questions. You will likely talk through many of your questions with various physicians, including primary care doctors and specialists. Another important resource is a genetic counselor, who can provide you with specialized information about TSC in a context that extends beyond clinical diagnosis and treatment.
Since the early 1990s, scientists have made great progress in tuberous sclerosis complex research, gaining insights about the underlying cause, especially the role genes and proteins play in abnormal cell development related to TSC. A key part of this work was finding the specific genes that, when mutated, result in TSC. In 1993, researchers identified the TSC2 gene on chromosome 16. Five years later, the TSC1 gene was identified on chromosome 9. Because of this research, the first genetic test for TSC became available in 2002.
An important part of living with tuberous sclerosis complex (TSC) is learning how to talk about the disorder. This includes talking with affected children about TSC, as well as with members of the immediate and extended family, friends, teachers, and medical professionals.
Caring for a child with TSC, or living with TSC yourself, can be challenging. There is much to learn about the disorder, from the wide range and variability of its symptoms, to the lifelong monitoring and medical care required to manage these symptoms. TSC's effects also typically change with age, making the disorder unpredictable. Not knowing what to expect can be unsettling and at times overwhelming. This page provides information about resources and strategies that may help to demystify TSC and help you create a network of support for you and your family.