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Santa Claus is coming to town!

Nov 06 2009

We are continuing our 30th Anniversary celebrations with a 5K Santa Fun Run in Greenwich Park on 6th December. This is a ‘men only’ run and we want 30 men to take part – one for every year.
There are still some places available – so if you want to join in, and run, walk or crawl in a Santa red robe and false beard (with 999 other Santas) please email maggie.mooge@cafamily.org.uk. We are asking £20 deposit and then to raise £100 in sponsorship.
It will be fun!

 

Ataxia-Telangiectasia

Background

Ataxia-Telangiectasia (A-T) is a very rare familial neurodegenerative disorder. Signs of the disorder usually become noticeable between one to four years although occasionally not until the teenage years. Affected children have problems of balance control (ataxia) and so unsteady walking is observed, as well as prominent blood vessels most commonly seen on the conjunctiva of the eyes in early childhood (telangiectasia). Speech problems occur but, after a period of deterioration, a stable state is reached and speech is always understandable. There is often a gradual loss of power as well as other co-ordination problems over the decades. Intelligence is normal. There is a lot of variation in how severely individuals are affected which can now be explained to some extent by recent developments in genetic understanding.

Other features of the disorder include: frequent infections due to a defect in the immune system; short stature and an increased risk of cancers.

How is it diagnosed? View How is it diagnosed?

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated July 2005 by Dr S Ritchie, Associate Specialist in Clinical Genetics, City Hospital, Nottingham, UK.

 

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