I forgot to add that in August 2007 our little Austin was diagnosed with tuberous sclerosis, TSC1. He has TSC but it doesn't have him.

Definition of Tuberous sclerosis
Tuberous sclerosis: A genetic disorder characterized by abnormalities of the skin, brain, kidney, and heart. The skin abnormalities are present in all cases and may include tiny benign tumors (angiofibroma) on the face and depigmented areas anywhere on the body. The brain abnormalities are mainly benign cortical tumors (tubers) which cause seizures, developmental delay, and mental retardation. The kidneys often contain multiple cysts and benign tumors (angiomyolipomas). The heart problems include arrhythmias and benign heart muscle tumors (rhabdomyomas).
The diagnosis of tuberous sclerosis is usually made by the medical history and clinical observation. For example, a child with a known seizure disorder is seen to have white spots on the skin visible under ultraviolet light.
Tuberous sclerosis is inherited in an autosomal dominant manner and results from mutation of either one of two genes: the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome 16. The TSC1 gene makes a protein called tuberin. These two proteins function together in cells to regulate and prevent the overgrowth of cells into tumors. When either the TSC1 or TSC2 gene is mutated, nonfunctional versions of hamartin or tuberin are made in the cell. As a result, the hamartin-tuberin protein complex does not form and cells divide too frequently, leading to the formation of noncancerous tumors. Two-thirds of cases of tuberous sclerosis are due to new mutations and the other third are inherited from a parent.
Common Misspellings: tuberous sklerosis, tuberous sclorosis, tuberous schlerosis, tuberous scleroses
Definition of TSC1
TSC1: The tuberous sclerosis 1 gene. The product of the TSC1 gene is a protein called hamartin. This protein interacts with tuberin, the product of the TSC2 gene. These two proteins form a complex and play a role in cell growth and division. TSC1 functions as a tumor suppressor gene.
Mutation in the TSC1 gene causes tuberous sclerosis. The mutant TSC1 gene produces an abnormal version of hamartin. This abnormal protein cannot form a complex with tuberin, the product of the TSC2 gene. Loss of this protein complex causes cells to divide too often, resulting in cell overgrowth and benign tumors. The TSC1 gene is located on the long (q) arm of chromosome 9 in band 9q34.