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Understanding Batten Disease

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Batten disease is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (NCL). These disorders are fairly rare in the United States occurring in approximately 3 out of every 100,000 births.

Batten disease is an inherited disorder of the nervous system that starts showing symptoms during childhood. At this time, there is no cure or treatment to stop or reverse Batten disease. However, with continued research, scientists may find the genetic cause and hopefully an effective treatment.

Batten disease is caused when a child inherits two copies of the defective gene, one from each parent. If both parents carry the defective gene their child will have a 1 in 4 chance of inheriting the disease. However, the child also has a 50 percent chance of becoming a carrier. If the child becomes a carrier they will not develop the disease, but he or she could pass the defective gene to their own children. Parents can now be tested to see if they are carriers before they start planning a family.

The disease occurs when there is an irregular increase of lipopigments in the nerve cells of the brain, as well as in other body tissues. Symptoms of Batten disease typically become apparent between the ages of 5 to 10. Occasionally, symptoms may be subtle and include loss of balance, clumsiness, and behavioral or personality changes. If your child’s doctor suspects Batten disease he may refer you to a neurologist. The neurologist will take multiple tests to determine whether the disease is present. These tests include a blood and urine test, a skin or tissue sample, an electroencephalogram (EEG), and brain scans. Eventually, children that are affected will suffer mental impairment, loss of sight, seizures, and diminished motor skills. Unfortunately, Batten disease is often fatal by the late teens or twenties.

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HERWriter Guide

Thank you for this information, I have not heard of Batten Disease before and as a parent, it's very disturbing, especially to read that it's usually fatal.

It's good to see that it's a pretty rare disease but thanks for informing us about the symptoms - you never know - someone may Google this kind of thing and read your share, which can start the ball rolling in terms of getting their child some help.

Do you know how much research is being done on this condition and is there hope for a cure?

April 11, 2009 - 5:57pm
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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.