Tuberous sclerosis complex (TSC) is a rare genetic disease that affects people at all stages of life. Every individual’s experience with TSC is different—many live independently while others require complex care. The TSC Alliance is working toward a future where every person and family affected by TSC has what they need to live their fullest lives. TSC causes tumors to grow in different organs and
can impair their function, primarily the brain, heart, kidneys, skin, and lungs. Changes in the brain caused by TSC have the biggest impact on quality of life, from seizures and developmental delays to intellectual disabilities, behavioral challenges and autism. Some people live with few symptoms while others need continual support. Most people with TSC live normal lifespans. But we know at least two babies born each day in the United States will have it. Nearly one million people worldwide are estimated to be living with TSC, with approximately 50,000 in the United States. The TSC Alliance connects them. TSC is the leading genetic cause of epilepsy, including infantile spasms. A strong correlation also exists between TSC and autism—an estimated 40-50% of individuals with TSC have autism spectrum disorder. When TSC presents itself in the brain, it can seriously affect quality of life. TSC-associated neurological disorders (TAND) include a wide range of cognitive, behavioral and psychiatric challenges linked to the disease’s impact on brain function. Autism spectrum disorder (ASD), intellectual disabilities, neuropsychological deficits, aggressive behaviors and more can impact people with TSC and their families. The more we understand about TSC, the more we understand about other diseases. TSC is a linchpin disease, meaning its genetic pathway also plays a role in other diseases and disorders. Advancements in TSC research have enhanced treatments for autism, epilepsy, and cancer—diseases that affect nearly 27 million people in the US alone. For example, autism in TSC mimics autism generally in terms of how it affects the brain. This means research around TSC and autism will lead to breakthroughs for autism more broadly as well. Everyone should know about TSC, especially healthcare professionals. Too many people go undiagnosed or misdiagnosed for years because of a lack of awareness, even though TSC is as prevalent as ALS, cystic fibrosis and Huntington’s disease. Early diagnoses change lives because they enable early interventions, which may prevent symptoms like developmental delays. More research improves more lives. In the last decade, the TSC Alliance has helped coordinate and fund research that resulted in two new FDA-approved drugs for TSC manifestations: to shrink tumors in the brain and kidneys and to treat seizures associated with TSC. Working together to create progress like this will lead to even more breakthroughs and enable more people with TSC to thrive on their own terms.
