4 Great Facts to Know When You Have Gaucher Disease

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.

A.k.a. this handsome devil right here. Source: commons.wikipedia.org

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.