What is A-T?
A-T is a rare progressive multi-system genetic disorder that attacks the neurological and immune systems of children who carry two copies of a defective A-T gene - one copy from each parent. There are about 500 children in the U.S. with A-T. An estimated 1% of the general population are carriers of the defective A-T gene.
A-T affects energy, immune resistance, balance, handwriting, clear speech and coordination of eye movements. Children with A-T are of normal intelligence.
Toddlers with A-T are usually "wobbly" walkers. In their preschool years, children with A-T begin to stumble and fall. By age 8, most children with A-T use a walker; by age 10 a wheelchair. Over 38% of children with A-T develop cancer. Mothers of children with A-T have a 9-fold increased risk of breast cancer - what is learned about A-T will also contribute to the prevention and treatment of breast cancer.
As A-T progresses, a child with A-T also tends to experience the following:
- wheelchair use by age 10
- hand tremors and extreme fatigue
- dyscoordination of eye muscles making reading functionally inadequate
- high sensitivity to radiation including X-rays
- increased risk of respiratory infections
- need for a full time aide in school for handwriting and note taking
- a 100-fold increased risk of cancer
Cognition is not affected.