The joy of being told you have a normal healthy newborn can at times be overshadowed by concern about whether the baby has a yet-to-be-discovered disease. Medical technology has helped ease these concerns through its exceptional progress in testing newborns and its ability to discover many new diseases at or before birth.
The year-round goal of the National Gaucher Foundation (NGF)l is to be a resource to patients, their families, and the community in providing information about the disease. The month of October, however, is national awareness month and the NGF literature is crammed full of “all of the above” plus patient updates, patient stories, and more.
The NGF descriptive brochure with valuable information on all aspects of the disease is available here.
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About Gaucher Disease:
The disease is an inherited lysosomal storage disease whereby enzyme deficiencies allow toxic materials to accumulate in cells. The lysosomes in Gaucher patients are unable to break down specific fats causing the undigested molecules and harmful substances to build up. Symptoms may occur at various locations throughout the body. There are five types of Gaucher disease each related to a specific organ system. Early detection generally mitigates severe symptoms.
One in every 20,000 live births is affected by Gaucher. Type 1 is the most common occurring mostly in people of Ashkenazi Jewish descent. In this population, the statistics change drastically to 1 in 450 people with Gaucher and 1 in 10 as carriers. It is important to know that being a “carrier” of Gaucher disease does NOT mean a person has Gaucher but under certain conditions, they can pass the Gaucher gene to their children. Information on testing for Gaucher may be found in Gaucher’s descriptive brochure.
About NGF
NGF is a nonprofit that is dedicated to assisting Gaucher disease patients and their families through patient services, educational programming, and financial assistance.
