What is Batten Disease?
A fatal, genetic disorder of the nervous system that begins in early childhood. It is not contagious or preventable. It is also knowsn as Juvenile Neuronal Ceroid Lipofuscinoses (JNCL).
How many people are affected?
Classified as a rare disease, there are less than 200 children in the United States affected by Juvenile Batten Disease.
What causes the disease?
The genetic defect is linked to a protein that regulates amino acid. In Batten Disease, the lysosomes cannot correctly dispose of cellular waste. The malfunctioning lysosomes result in the death of more and more brain cells, which show up as seizures, loss of eyesight, inability to speak or move, and death by the early 20's.
How is the disease diagnosed?
Because vision is an early sign, Batten Disease may be first suspected during an eye exam by detecting a change in the macula or by a seizure. The disease is then confirmed by DNA testing. A team consisting of a pediatric neurologist, a geneticist, and a pediatrician are needed for support and advice.
Is there any treatment?
No specific treatment is known that can halt or reverse symptoms of Batten Disease.
What research is being done?
The federal government, through the National Institudes of Health, is the major supplier of funding for research. There are currently less than a dozen research groups working on Batten Disease, and they have yet to pinpoint the cause or a treatment to slow the progression of disease. In 2004, Juvenile Batten Disease received $1.3 million dollars for research through the NIH. The Batten Disease Support and Research Association (BDRSA) provide an additional $400,000+ each year for research through private donations. Private funding is where the future for research on Batten Disease lies.
