Gaucher disease is a rare inherited enzyme deficiency disorder, symptoms range from mild to severe and can appear at any time, from infancy to old age. The most common form of Gaucher disease is type 1 and affects 1 in 100,000 of the general population. In the rare neuronopathic (types 2 and 3) Gaucher disease, neurological symptoms occur. Children with type 2 Gaucher disease usually die within the first few years of life.
The Gauchers Association is the only registered UK charity providing support to individuals and families affected by Gaucher Disease, acting as the centre point for the Gaucher community working alongside medical professionals, scientists and the pharmaceutical industry to meet our aims:
- To support those individuals and their families affected by Gaucher disease through our patient and family advocacy service.
- To provide information to patients and families regarding all aspects of Gaucher disease
- To advocate on behalf of patients and families to ensure access to appropriate treatment and specialised care through the Centres of Excellence in the UK.
- To promote research into the causes; effects and treatments for the three types of Gaucher disease.
- To raise awareness and promote education in the medical profession of Gaucher disease to improve diagnosis and the impact of the condition on patients and families lives.