If you have just learned that you, your child, a relative, or a friend has Gaucher disease, the odds are that this is the first time you have ever heard of this disorder. Gaucher disease is not very common, and until recently it has received very little public attention.
Uncertainty can breed concern and the anxiety many individuals have about the disease is due in part to a lack of information. In fact, since Gaucher disease was first identified over 100 years ago, much has been learned about the nature of the disease, as well as how the symptoms and psychological effects can be managed.
Research conducted over the past 30 years has also led to new approaches to treatment that can reverse the major symptoms of the disease. Gaucher disease (pronounced go-shay disease) is an inherited disorder.
Symptoms of the disease can vary from very mild to severe, and they can appear at any time, from infancy to old age. In affected individuals, however, the genetic cause is present from the time of conception.
Individuals of any ethnic or racial background, including blacks and Hispanics, may be affected but it is more prevalent among people of Jewish origin.
How is the disease diagnosed?
The Gauchers Association is:
A Registered UK Charity, Registered Charity Number: 1095657
A Registered Company Limited by Guarantee in England and Wales Number 446823.
The Registered Office: 86-90 Paul Street, London EC2A 4NE
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 of the enzyme deficiency, a fatty substance called glucocerebroside accumulates in the spleen, liver, bone marrow and sometimes in the central nervous system.
Find out ways that you can get involved with The Gauchers Association.
See the ways that The Gauchers Association can support you.
