Gaucher disease has come a long way, but that doesn’t meant it’s easy to understand when you’re first diagnosed. Luckily, these facts can get you started:
Fact One: Gaucher disease affects one in 20,000 births. However, that number becomes one in 450 among the Ashkenazi Jewish population, where it is most commonly found.
Fact Two: Gaucher causes an enzyme deficiency (glucocerebrosidase) that prevents the breakdown of fatty tissue. As a result, fats accumulate in the liver, spleen, bone marrow, and in other organs, including the brain. Gaucher is inherited when both parents are carriers of a defective gene.
Fact Three: It was identified in 1882 by a French doctor named Philippe Gaucher.
And finally, Fact Four (the best one of all): According to the National Gaucher Foundation, treatment for this autosomal recessive disorder has come a long way, and as people become more aware, everyone’s hopeful that researchers will turn their attentions toward finding a cure.
If you’d like to learn more about the symptoms of and treatments for Gaucher, contact the NGF.
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