What is Tuberous Sclerosis?

(TSC)is a genetic disorder which causes benign tumors to appear in many major organs of the body. The tumors typically appear in the brain, heart, kidney, eye and skin. The threat of the tumors is the irritation to the proper function of the affected organ.

For example brain tumors may cause epilepsy and mental impairment. It is estimated that: eighty percent of those with Tuberous Sclerosis suffer from seizures; fifty percent suffer from mental impairment of those twenty-five percent of those are autistic; eighty percent have some kind of skin manifestation through white patches, facial tumors, or thickened patches; sixty percent have kidney involvement and three percent have lung involvement; eighty percent have eye tumors and all TSC adults are noted to have pits in teeth. Other organs more rarely affected are liver, pancreas, lungs and skeleton.

There is no known cure for Tuberous Sclerosis only treatment for some of the symptoms.

The prevalence is estimated to be 1 in 10,000 in the general population and incidence of 1 in 6,000 live births. TS affects both sexes and all races and ethnic groups. There are approximately 25,000 to 40,000 individuals with TS in the United States and 1,000,000 worldwide.

It has been calculated that sixty percent of those affected by Tuberous Sclerosis are caused by a spontaneous mutation to the genes at conception. The other forty percent would be inherited at conception from a parent’s genetic make-up. There is presently no known cause of spontaneous mutations in Tuberous Sclerosis. An individual affected by Tuberous Sclerosis has a fifty percent chance of passing the gene on to a child. There is no test that can be performed on an individual to rule-out Tuberous Sclerosis.

Only examination of symptoms of typically affected organs can give an idea whether an individual carries the TS gene.

Research is vitally important to those affected by Tuberous Sclerosis. There are two known genes that cause TS. The gene on Chromosome 16 has already been found and mapped out. The gene on Chromosome 9 has been located and mapped at this time also.

A genetic test is now available for TS families and their children. When Luke was born, there was no genetic test available. We are very grateful for this breakthrough in research. It was determined that Luke’s cause of Tuberous Sclerosis is from a spontaneous mutation. Neither Luke’s father or myself have Tuberous Sclerosis and neither do our other children.

It is believed that “Tuberin” is the deficient protein in TS patients which normally should suppress tumors throughout the body. If this is the case and can be reproduced, genetic therapy could be administered thereby controlling tumor production in a patient with Tuberous Sclerosis and eliminating the complications.

Another benefit of genetic research would be genetic testing for TS which would result in early diagnosis and treatment. Symptoms like autism and epilepsy will be more completely understood through research and an increase in the overall understanding of other similar genetic disorders.

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