Welcome to Gaucher’s Chat, the Gaucher’s Disease support network for people with Gaucher’s Disease and their families. Our site is open to anyone with Gaucher’s Disease, family members and friends of people with Gaucher’s Disease. People of all ages may join. Here you can find one on one support from people just like you. We offer a sanctuary where you can feel comfortable to communicate openly about having Gaucher’s Disease, get answers to your questions, and meet people like yourself. We welcome you with open arms. We welcome physicians, nurses, and all medical staff to join and help support the Gaucher community. We offer links to main support sites where you can get assistance with insurance or financial needs, join the Gaucher registry, find information about Gaucher’s Disease treatment options, and much more. We also welcome your feedback and knowledge. If you have information you would like to see added to our support network, just contact us. Membership is free so apply for an account today!
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Gaucher's disease (pronounced /ɡoʊˈʃeɪz/) is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases.:536 It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase). The enzyme acts on a fatty substance glucocerebroside (also known as glucosylceramide). When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells (mononuclear leukocytes). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.
~Quoted from Wikipedia