Ataxia Telangiectasia (A-T) is a genetic neurodegenerative condition, which causes increasingly severe disability and premature death. Children are born apparently healthy but from around two years old their balance and coordination deteriorate and they are often described as ‘wobbly’ or ‘clumsy’. Most children with A-T require the regular use of a wheelchair before their teenage years and as time progresses, need full-time care. Children will often have problems reading and speaking but their minds are unaffected. The condition also affects the immune system, leading to frequent chest and lung infections and a high risk of leukaemia and other cancers. Currently there is no cure and children with A-T are there is a high risk of early morbidity.
The impact of A-T on individuals and families is devastating. One in 200 people unknowingly carries the A-T gene, and in almost every case the diagnosis will come out of the blue. Parents not only have to cope with the prospect of increasing disability and the challenging medical and care needs of their child, they must be ready at any time to face the prospect of severe illness and possible death. Click here for a basic overview of A-T in various languages or vist the links below for further information.
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