My name is Nancy, and my daughter Atenea is three years old. She was diagnosed with Tuberous Sclerosis Complex (TSC) when she was 15 months old. Tuberous sclerosis complex is a rare genetic disorder that causes non-malignant tumors to grow in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. You will see the condition referred to both as tuberous sclerosis (TS) and tuberous sclerosis complex (TSC). The term TSC is used in scientific literature to distinguish tuberous sclerosis complex from Tourette’s syndrome.
TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.
The disease affects some people severely, while others are so mildly affected that it often goes undiagnosed. Some people with TSC experience developmental delay, mental retardation and autism. However, there are also many people with TSC, living independent, healthy lives.
Despite Atenea’s condition, she is a happy and intelligent little girl!!
For more information on TSC, watch this video made by the Tuberous Sclerosis Alliance.