Ataxia-telangiectasia is a neurodegenerative disease that affects speech and muscle control, weakens the immune system, and increases the risk of cancer. There is no cure, and treatment involves boosting immunity and giving additional doses of vitamins. The disease is inherited in a recessive manner, and genetic counseling is recommended for siblings of children with the disease.
For parents, getting a diagnosis that their child has ataxia-telangiectasia is extraordinarily difficult. The disease is neurodegenerative, because the parts of the brain that control the speech centers, the cerebellum, progressively degenerate, making it difficult for children to speak without slurring, and eventually impossible for children to speak or write. Subsequently, children with ataxia-telangiectasia lose control of most muscle movements and many are wheelchair-bound within a few years of being diagnosed with the disease.
There are additional difficulties with ataxia-telangiectasia. About 70 percent of children who get the disease also get cancer, and most children with the condition have weak immune systems, making them especially prone to respiratory infections. Children who don’t succumb to cancer or disease still have remarkably short lifespans. They can live to be 20, and some people with this disease have lived to be 40. In general, the life span of a child with this disease is incredibly short.
Despite the degeneration of the brain in terms of speech and muscle control, most of these children have average to above average intelligence. In some ways this seems even more tragic. Like stroke victims who suffer from ataxia, the inability to speak well or at all, a normal mind must endure the frustration of being unable to communicate by regular means and is fully aware that things that once came easily, like walking , running or playing, are now no longer possible. It is intense and difficult mental suffering that awaits a child with this diagnosis and their families who cannot prevent the progress of this disease or ever recover what the child has lost.
The disease is usually diagnosed when a child with ataxia develops telangiectasias, tiny red veins that appear in the corners of the eyes and sometimes on the cheeks and nose. Telangiectasias are not uncommon in perfectly healthy children. It is the combination of the condition with the ataxia that usually confirms the diagnosis.
Unfortunately, there is no prevention for ataxia-telangiectasia and no cure. Treatment may consist of giving children shots of gamma globulin to boost their immunity and giving additional doses of vitamins for the same reason. If children develop cancer, parents must decide whether to let them go or give them chemotherapy, which can be especially difficult since immunities to normal disease are low under any circumstances and worsen when chemotherapy or radiation is used.
This condition requires more research, more understanding, and the development of cures or prevention. Currently, the progress of the disease is understood as well as the fact that it is inherited in a recessive manner. Both parents must have a recessive gene for ataxia-telangiectasia to occur, and even when they do, each child has a 75% chance of not inheriting the disease. For siblings of children with ataxia-telangiectasia, it is usually recommended that they have genetic counseling before having children to determine whether their partners also carry a recessive gene.
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