First identified in 1957, Ataxia-Telangiectasia (A-T) is a rare genetic disorder that attacks children. It is a degenerative, multi-system disease that affects the neurological and immune systems of children that carry two copies of a defective A-T gene. Although an estimated 2.5 million U.S. residents carry the A-T gene, it is considered a recessive genetic disorder because carriers do not exhibit symptoms. Even more significant, two unsuspecting carriers have a 25% chance of bearing a child with A-T with each pregnancy. Little is known about the disease and misdiagnoses are common.
The gene which is responsible for A-T interacts with cell proteins to repair DNA. When the gene is mutated, it is unable to send signals to repair damaged DNA which results in the progressive breakdown in an A-T child's systems.
How Does A-T Affect You?
A-T exhibits features that are of major concern in medicine today: cancer susceptibility, immune deficiency, progressive neurological deterioration, and premature aging.
10% of A-T patients develop cancer including leukemias and lymphomas.
A-T patients suffer from progressive breakdown of the immune system that is relevant to other immunodeficiencies including AIDS.
A-T patients experience degeneration of brain cells
similar to individuals suffering from Parkinson's and