The Gauchers Association was formed in 1991, and is the only organisation in the United Kingdom that provides information and support to those with Gaucher disease, their families and health-care professionals.

The Association:

• Supports families and carers to ensure all individuals with Gaucher disease have access to best practice in diagnosis, treatment and care.
• Provides information on Gaucher disease and raises awareness of this rare disease.
• Promotes research into the causes, effects and treatments of Gaucher disease.
• Represents the interests of Gaucher patients at all times to ensure that the voice of the
• Gaucher patient is heard.

What is Gaucher disease?

Gaucher disease is a genetically inherited, enzyme deficiency disorder. Symptoms range from mild to severe and can appear at any time, from infancy to old age. They may include anaemia, fatigue, easy bruising and a tendency to bleed. An enlarged spleen and liver with a protruding stomach may also occur as well as bone pain, demineralisation and fractures.

People with Gaucher disease lack sufficient activity levels of an enzyme called glucocerebrosidase.
This Enzyme helps the body break down worn-out cells and as a result, a fatty substance called glucocerebroside accumulates in the spleen, liver, bone marrow and sometimes in the central nervous system.

The most common form of Gaucher Disease (Type 1) affects 1 in 100,000 of the general population but 1 in 850 of Jewish (Ashkenazi) descent, although not all those who inherit the mutated genes for this disorder will show symptoms.

In the rare Neuronopathic (Types 2 and 3) Gaucher Disease, neurological symptoms occur which include an eye movement disorder (oculomotor apraxia), unsteadiness (ataxia), fits, loss of skills and a central auditory processing disorder. Children with Type 2 Gaucher disease die within one or two years of birth.