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"What is Gaucher disease?"


I'm an Ashkenazi Jew, so my children at very high risk, according to my doctor for some rare conditions. Apparently I should get prenatal testing, when I become pregnant, for Gaucher's Disease? What is this? If I'm at such a high risk, is it a safer plan to avoid having children at all?


Gaucher disease is a rare autosomal recessive genetic disorder in which the person lacks a specific enzyme called glucocerebrosidase. There are approximately 1 in 50,000 people affected in the population. Being an Ashkenazi Jew puts you at a much higher risk than the rest of the population.

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To inherit the disease, both the mother and father must have one abnormal copy of the gene that must and must pass on only that copy to their offspring. If two carriers mate, the odds of the offspring having the disease is 25%, whereas the odds of the offspring being a carrier is 50%. If only one copy of the gene is passed along, the offspring does not show signs of the disease but is considered to be a carrier. There are three main subtypes of the disease which is outside the scope of this discussion. Some of the symptoms of the disease include bone pain and fractures, cognitive impairment, enlarged spleen, and heart problems. There are blood tests that can be done during the prenatal testing period to assess whether you and your partner are carriers of the disease. Of course, only your primary care doctor or ob/gyn can best evaluate you and your risk factors and counsel you on your options in terms of high risk pregnancy.

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