Juvenile Batten Disease

What is Juvenile Batten Disease (JBD)?

Batten Disease describes a group of rare inherited neurodegenerative disorders that occur in children and adults, and tends to be referred to as Neuronal Ceroid Lipofuscinoses (NCL).

Juvenile Batten Disease occurs because of a recessive genetic disorder. This particular disorder prevents the metabolism of complex fatty protein that is particularly necessary to enable nerve cells to work effectively. Without this protein, nerve cells and in particular brain cells are unable to function. Added to this, the function of key chemicals that help brain cells talk to each other are affected. Currently there is no cure for Juvenile Batten Disease.

Juvenile Batten Disease usually begins at early school age. It often begins with vision problems. Later short-term memory loss, epilepsy, motor problems and declining school progress become apparent. Life expectancy is limited to between late teens and mid thirties.

What makes Juvenile Batten Disease different from many other disabilities is that all the young people have known a ‘normal’ life before the first signs of their condition, clumsiness and falling over appeared. Tests show sight problems and after further tests with an Ophthalmologist, Juvenile Batten Disease is diagnosed. Click here for more detailed information about the Disease.

What are the symptoms and side effects of the condition?

The leading symptom is the onset of visual failure due to retinal degeneration.

Loss of memory, awareness and altered ability to think and understand becomes evident several years after the onset of visual problems. Speech gradually becomes strange and understandable only to the family. The severity of Epilepsy is quite variable, and most young people have a first seizure at an average age of 11, but this can vary between the age of 5 and 18.

By their mid teens, children may develop signs of Parkinisonism a motor disorder. They show a characteristic standing posture with bent knees and have some degree of stiffness and difficulty moving.

Sometime after the onset of visual loss, psychiatric disturbances of various types may occur, which can cause behavioural problems. Often the young child experiences what can be described as 'night terrors' and many lose their normal sleep rhythms.

Below are some guidelines written from experiences gathered at Heather House:

Guidelines about the later stages of Juvenile Batten Disease

Treatment guidelines for symptom crisis in Juvenile Batten Disease

SeeAbility support

SeeAbility provides a unique specialist nursing and social care service for young adults with Juvenile Batten Disease. It is the only one of its kind in the UK.

Heather House was opened in 1999 and quickly established itself as an inspirational and pioneering service. SeeAbility works in partnership with Guys and St. Thomas’ Trust supported by the Batten Disease Family Association and plays a key role in the Batten Professional Interest Group to improve the care and treatment of young people with Juvenile Batten Disease around the world.

We understand how best to support people who have this disease.

Treatment depends on each person. Juvenile Batten Disease manifests itself differently for each person. For some, the condition is quite aggressive while it is less so in others. An individual’s personality also plays a part in how a person responds to the varying stages – a calm person can find it easier to cope than anxious individuals who find it much more difficult. We recognise this and work with each person on an individual basis.

Externally to Heather House we are able to offer assessments for local and health authorities, based where necessary on a full assessment on an individual, as well as training packages.