Battens disease is a very rare illness that affects the brain and starts in young children. It is a part of the disorders known as neuronal ceroid lipofuscinosis. Battens disease usually refers to the infantile form of NCLAAs but some doctors call all forms of NCL battens disease.

This disease only affects 1 in every 100,000 births and tends to appear more in certain countries than in others. Because it is an inherited gene, more than one person within the same family can be affected by battens disease.

When a child is between the ages of 4 and 10 symptoms of the disease begin to manifest themselves. The child will begin with vision problems, and in some cases seizures. He will experience slow learning, repetitive speech and even regression. His head may grow slowly, and he will experience circulation problems in his legs. He will begin to lose weight and his spine will begin to curve. A child who has battens disease will begin severe teeth grinding, and breath holding.

As the illness progresses children will suffer mental problems and worse seizures, and his sight will worsen. Eventually he will become bedridden, and blind. This disease diminishes the lifespan of all children who have it.
Battens disease was not discovered as such until 1903 when it was also discovered that it is an inherited disease. The illness causes an excessive amount of lipofuscins in the body. These are proteins and fats that form in a certain way. A physician will diagnose Batten disease after having seen these special deposits in skin samples.

Up until recently there was no known treatment for batten disease. There were only methods of minimizing the convulsions and minimizing the effects of the disease, but in the long run the outcome has always been the same. In June 2004 new research found that certain gene therapy seemed to have some positive effects on the disease. The medical research community found that fetal neuronal cells that were injected into children affected by the disease had a drastically positive affect on children. So much so, that severely affected children began to regain speech ability and mobility. Many of these very ill children were able to return home.

The following year, the FDA approved the transplant of these fetal cells into the brains of children affected with Battens disease. Suddenly, there is hope for both parents and children that suffer from this terrible disease.

If you are looking for more information on these trial treatments the Battens Disease and Support organization can offer more information and help locate a genetic counselor for you.