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Ashkenazi Jews Should Be Screened for Canavan Disease
Ilene Springer
Prospective Jewish parents have another disease they should be screened for: Canavan Disease, a fatal genetic childhood disease for which there is no known cure. The American College of Obstetricians and Gynecologists recommends that carriers of the disease--primarily Ashkenazi (Eastern European-descent) Jews should be tested for the gene before contemplating pregnancy or during very early pregnancy. As with Tay-Sachs disease, another fatal genetic disorder, screening requires only a small blood sample that is evaluated by a laboratory with expertise in genetic testing and counseling. During pregnancy, testing for the genetic defect can be done with either chorionic villus sampling (CVS) or amniocentesis. Canavan disease starts manifesting itself in early infancy with low overall muscle tone and lack of head control. Mental retardation results and speech never develops. Blindness, seizures and severe feeding problems also arise. Many children do not live to reach adolescence. If both parents are carriers of the disease, there is a one-in-four chance that each pregnancy will result in a child with the disease. For more information on the disease and a list of testing sites contact the Canavan Foundation, 600 West 11th Street, New York, NY 10025. 212-316-6488.