Ataxia telangiectasia (A-T) is a rare and incurable disease often described as the worst parts of cerebral palsy, muscular dystrophy and cystic fibrosis. Throw in a dose of cancer and lung disease and you have a general picture of this relentless condition.
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. In healthy people who do not have A-T, this ATM protein plays a critical role in coordinating how cells detect and respond to certain types of DNA damage. DNA damage occurs in all humans on a daily basis. However, children with A-T lack the ATM protein and are unable to properly repair the 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. Children with A-T are also sensitive to radiation and are unable to undergo traditional cancer treatments such as chemotherapy. Unfortunately, most A-T children who develop cancer will succumb to its effects.
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.
In addition to the loss of muscle control, 60-80% of children with A-T also suffer from poor immunity, making them highly prone to serious infections, particularly lung infections. A-T reduces the ability of cells to repair themselves, making infections difficult to recover from, and often resulting in scarring on the lungs which can lead to serious complications and death. Children with A-T are often required to receive monthly gamma-globulin treatment to strengthen their immune system.
Difficulties of co-ordination in A-T can lead to an inability to cough, making it difficult to clear airways and resulting in more infections. Co-ordination issues can also lead to problems with swallowing, which can lead to particles of food or drink settling in the lungs, leading to serious infections such as pneumonia, which coupled with poor immunity, can be fatal. About one-third of A-T children will die due to respiratory complications. To reduce the risk of food settling in the lungs, most A-T children will be fitted with a peg to allow tube feeding directly to the stomach.
BrAshA-T aims to raise awareness about A-T and to raise much needed funds for ongoing research currently in progress in Australia. This is only possible through your valuable support, and for this, we thank you.