At every TYCI live event, we support a different charity. For our special (sold out!) Christmas event on 21 December, we have chosen children’s charity The AT Society, an organisation which helps sufferers of a rare genetic disorder and their families.
Ataxia-Telangiectasia (‘AT’) is a rare and complex genetic disorder. It is often referred to as a ‘multi-system’ disorder because it affects a number of different systems within the body. Amongst the most significant of these are:
– Increasing difficulty in controlling and co-ordinating movements (ataxia)
– Reduced efficiency of the immune system leading to more frequent infections (immunodeficiency)
– An increased risk in developing cancers, in particular leukaemia and lymphoma
– Prominent blood vessels often in or around the eyes (telangiectasia)
– Increased sensitivity to x-rays and similar radiation
These problems can have knock-on effects, including difficulty coordinating movements which can make it difficult to eat, which can lead to children being underweight, or to particles of food getting into the lungs.
AT is caused by a defect, known as a ‘mutation’, on a particular gene. When this gene is not working, the body cannot properly produce a particular protein called ‘ATM’ which should be present in every cell. ATM plays an important part in the way each cell functions and when it is absent or not working as it should, this gives rise to the wide range of symptoms of AT.
The AT Society aims to improve the quality of life and quality of care for people living with AT whilst actively promoting research to lengthen lives and find a cure.
For more information on the charity or to donate yourself, visit The AT Society website. For more information on the TYCI event which will raise money for the organisation, check out the Facebook event.