Tuberous sclerosis is caused by one of several mutations in genes that regulate cell growth throughout the body. The condition affects people differently and symptoms can range from barely noticeable to completely disabling. People with it commonly develop one or more of the following:
Tumors, often in the brain, heart, and kidneys. Technically benign, they can be dan-gerous if they impinge on crucial functions.
Autism, all along the spectrum, from socially awkward to nonverbal and/or intellectually disabled.
Epilepsy, beginning in infancy, which can be mistaken for a startle reflex and ignored for months. Untreated, these seizures can disrupt the developing brain and cause intellectual disabilities.
SOURCES: Dr. Mustafa Sahin, Boston Children’s Hospital; Steve Roberds and Kari Luther Rosbeck, Tuberous Sclerosis Alliance