Tefma is pleased to support its nominated charity, BrashA-T Ataxia. TEFMA supports BrAshA-T through raising awareness, fundraising at events and by donating to the the charity in lieu of speaker gifts at TEFMA hosted workshops and forums.
What is Ataxia-Telangiectasia?
Ataxia telangiectasia (A-T) is a primary immunodeficiency disease that affects a number of different organs in the body. It is a rare and incurable disease often described as the worst parts of cerebral palsy, muscular dystrophy and cystic fibrosis.
A-T occurs when a child is born with both copies of the “ATM” gene disrupted, which prevents his or her cells from producing any ATM protein. As children with A-T lack the ATM protein they are unable to properly repair or respond to certain types of DNA damage, giving rise to genetic instability and as a consequence, an increased risk of cancer, in fact, a risk 1,000 times greater than the general population. About one-third of children with A-T will develop cancer.
For reasons yet unknown, A-T affects the cerebellum, which is responsible for muscle control. As the cerebellum cells start to die, impaired muscle control results in difficulty with balancing, walking, co-ordination and fine and gross motor skills. This eventually leads to a loss of any movement or activity that requires the use of a muscle – eye movements, speaking, writing, swallowing, bladder control, breathing, coughing. Children with A-T are generally confined to a wheelchair between the ages of 8-10 years old, and rarely survive beyond their 20s.
BrAshA-T aims to raise awareness about A-T and to raise much needed funds for ongoing research currently in progress.
We encourage our network to donate here