Batten Disease

• 4 children per year diagnosed in New Zealand
• Affects around 6 in every 100,000 live births
• Average life expectancy ranges from 8 years to 20 years

Batten disease is a fatal inherited disorder of the nervous system, which typically manifests between the ages of two and six. The disease has several different forms that share the same symptoms and causality but vary in severity and age of onset.

Batten disease is relatively rare, affecting 6 in every 100,000 live births in New Zealand. Children who have the disease most often develop normally up to the point where symptoms start to appear. However, the symptoms are devastating and progress quickly causing blindness, deafness and paralysis in children often before they are teenagers.

Because Batten disease is genetic, it may affect more than one person in a family. The rarity of the disease means that it receives relatively low levels of funding around the world when compared to other neurological disorders, which makes funding research in New Zealand so much more important.

Signs and Symptoms:

Batten disease is typically diagnosed when a parent or doctor notices that a child has started to progressively lose vision or develop seizures that were previously not present. Symptoms are often subtle to begin with and vary greatly, but can also include clumsiness and behavioural changes.

As symptoms progress, children will become blind, paralysed and unable to communicate. Life expectancy depends on age of onset but very few children with Batten disease survive beyond their late teens.

Causes and Treatment:

Batten disease is caused by a defective gene that causes fatty substances to build up in the brain, killing off brain cells and cells in other parts of the central nervous system. To inherit the disease, a child must have two parents who are both carriers of the defective gene. A child with two carrier parents has a 25% chance of contracting the disease and a 50% chance of becoming a carrier.

There is no known cure for Batten disease, but research is advancing rapidly at Otago and Lincoln Universities. Researchers at these two South Island universities have for some time now bred sheep with Batten disease to trial treatments, including most recently gene therapy. Gene therapy treatments have shown successful results in halting the advancement of Batten disease and it is believed that this treatment may soon lead to clinical trials. The Neurological Foundation has funded this research for the past 21 years, and with your support we can continue to help this incredible research move forward.