Batten disease is a family of rare diseases caused by autosomal recessive genetic mutations resulting in the body. These genetic mutations disrupt the cells’ ability to dispose of wastes. Cells are thrown out of balance with the build-up of proteins and lipids (fats) resulting in
Progressive vision loss leading to blindness
Seizures
Movement disorder
Dementia
Developmental skills such as standing, walking, and talking may not be achieved or are gradually lost. Other symptoms that continue to worsen over time include learning difficulties, poor concentration, and progressive loss of language skills and speech. Most children become bedridden and unable to communicate.
There are 13 known forms of Batten disease and it's estimated that 2-4 births per 100,000 in the U.S affected by Batten disease. Unfortunately Batten Disease is a degenerative and fatal diagnosis with little to no funding for research or clinical trials.
The BDSRA is a foundation is dedicated to funding research for treatments and cures, providing family support services, advancing education, raising awareness, and advocating for legislative action.
