Nick's Battle

What is Juvenile Batten Disease??

Juvenile Batten Disease is a autosomal recessive disorder.

This Disease is not contagious in any way. It can only be passed on to a affected or carrier child by their parents.

The affected means that both parents had the same defective gene, and both passed on that same gene to their child. This disease will cause children to go blind, become bedridden, and will eventually die an ugly death. They will also suffer mental and physical disabilities and seizures that are both seen and unseen. There is no cure for Juvenile Batten Disease at the present time. The affected's life expectancy is usually late teens to early twenties. It has been noted that some will live into their thirties. The only thing that can be done is to treat the symptoms and lessen the pain.

A carrier will only have one defective gene a will not be affected by the disease. However, they can pass this on to their children. Remember it takes both parents to pass the same gene to be defective to become affected. Some families can have either affected, carriers, or normal, no defective gene whatsoever.

They only way to find out is for genetic testing for the disease.

However, research is ongoing. The gene and chromosome responsible have been found. What is happening is that the normal body has a gene which tells a certain protein to create an enzyme. That enzyme eats away fatty acids and proteins that build up around the brain. A child with Juvenile Batten Disease has a defective NCL3 gene. The defective part is that the gene does not know what the protein is. Therefore, that fatty acid builds up on the brain and becomes toxic to it.

What needs to be done next is to find the protein and the enzyme. There is research going on, but it takes money.

The Batten Disease Support and Research Association is an extremely good source for information about Juvenile Batten Disease and it's related forms.