GAUCHERS ASSOCIATION

Gaucher's disease is an inherited enzyme deficiency disorder. Symptoms range from mild to severe, and can appear at any time from infancy to old age. They may included 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, degeneration and fractures.

The most common form (Type 1) affects 1 in 100,000 of the general population, but 1 in 450 of Jewish (Ashkenazi) descent, although it is estimated that not all those who have the disease will show symptoms. In the rarer Types 2 and 3, neurological problems will occur.

The Gauchers Association was formed in 1991 to meet the needs of those suffering from this disorder. It aims to:

• provide information about the disorder and keep families and specialist advisers up to date with latest developments.
• encourage the availability of treatment including enzyme replacement therapy.
• keep families in touch for support.
• compile a register of those affected by Gaucher's, which will help assess the prevalence and distribution of affected families.
• actively encourage medical research

The Gauchers Association
25 West Cottages
London
NW6 1RJ

020-7433 1121
support@gaucher.net
http://www.gaucher.org.uk/

Associated Medical Information