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What is Batten Disease?

Batten disease is an ultra rare fatal genetic disease which affects the nervous system, causing progressive neurological impairment. It’s currently incurable, so we’re trying to raise awareness and funding for vital research.

About Batten Disease

Batten Disease is the common name for one of a rare group of neurodegenerative diseases called Neuronal Ceroid Lipofuscinoses (NCLs). As a progressive disease, it typically begins in early childhood and worsens with age, caused by the buildup of fatty substances, called lipopigments, in cells. There are several different types, but all are fatal with a greatly shortened life expectancy.

What causes Batten Disease?

Our cells contain thousands of genes, most of which control the manufacture of at least one protein. These proteins perform different functions, including enzymes which accelerate molecular chemical reactions. NCLs are caused by abnormal genes which are unable to produce the required proteins. As a result, the cells don’t work properly, leading to the development of symptoms.

What are the symptoms of Batten Disease?

Children with the disease often appear healthy and develop normally before showing symptoms. Common symptoms include vision loss, seizures, dementia and abnormal movements. As the disease progresses, children may develop personality and behaviour changes, clumsiness, learning difficulties, poor concentration, and loss of speech and motor skills. Eventually, children typically become blind, wheelchair-bound, unable to communicate and lose all cognitive functions.

How is Batten Disease diagnosed?

It’s estimated all forms of NCLs affect 1 in 100,000 people worldwide. Currently, most diagnoses use genetic testing, a review of the person’s individual and family medical history, and a neurological exam. They may also take blood and urine tests, skin and tissue samples or electrical studies of the eye.

What treatments are available for Batten Disease?

There’s currently no cure, although a symptom relief treatment for one of the forms has been approved by the U.S. Food and Drug Administration and European Medicines Agency (EMA). Therefore, specialist symptom management and therapy is essential to assist in maintaining a good quality of life for children and their families. Holistic support for parents, siblings and wider family members is extremely important throughout their journey.

Useful resources

Here are some links to further support and information about Batten disease. Please click the logos to learn more.