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 may be affected but it is more prevalent among people of Jewish origin.
The timing and severity of symptoms vary greatly. Generally speaking, the later in life the first symptoms appear, the less likely that the disease will be severe.
