Ataxia-telangiectasia is a rare genetic, progressive degenerative disease that usually manifests in young children about the time they’re learning to walk and affects a wide range of systems within the body as the part of the brain called the cerebellum begins to degenerate.
Wobbling or swaying when toddlers walk, stand or sit is the most common initial system, according to the A-T Children’s Project, a nonprofit organization that supports biomedical research, scientific conferences and a clinical center searching for therapies to improve victims’ quality of life and, ultimately, a cure.
By the time they’re in preschool or kindergarten, children with the disease have trouble shifting their gaze normally, develop slurred or distorted speech and have difficulty swallowing, all the result of the “ataxia” portion of the disorder.
As it progresses, the disease causes their speech to become more slow and slurred and reading to become impossible. They also lose their ability to write, and most are confined to a wheelchair by the age of 10.
Soon after the ataxia symptoms start, victims develop the “telangiectasia” effects — tiny red “spider” veins that appear in the corners of the eyes and on the surfaces of the ears and nose when exposed to sunlight.
About 70 percent of those with A-T will also develop an immunodeficiency that leaves them vulnerable to lung infections that are resistant to antibiotics and can lead to life-threatening cases of pneumonia, according to the A-T Children’s Project.
Children with A-T also have an increased risk of cancer — up to 1,000 times greater than the general population has of developing blood malignancies. Lymphoma and leukemia are common among A-T patients, yet the disease also makes them more sensitive to radiation, so they can’t tolerate normal therapeutic levels that would be used to treat cancers.
Other problems often afflicting A-T patients include diabetes mellitus, slowed growth, choking and drooling because of the difficulty in swallowing and hair becoming prematurely gray.
Despite their physical symptoms, their intellect is unaffected, and they are socially aware and skilled.
There is no cure for the disease, which the A-T Children’s Project calls “unrelenting,” and there is no way to slow its progression. The only thing doctors can do is alleviate some of the symptoms through physical and speech therapy, and injections of gamma globulin to support the immune system along with high doses of vitamins.
The disease itself is so rare — estimated at one in 40,000 to 100,000 births — it’s called an “orphan” disease. Few people know of it, data on beneficial pharmaceuticals are extremely scarce and the funds available for research into potential cures and therapies are a fraction of those available for high-profile diseases.
For more information about ataxia-telangiectasia, visit the A-T Children’s Project website at www.atcp.org.