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Einstein Medical Center Philadelphia is offering free Tay-Sachs disease screenings to those of Irish descent. Screenings—which involve a simple blood test—are free to those who participate. To be eligible, participants must be at least 18 years of age and have at least three grandparents of Irish descent.
Tay-Sachs Disease is a fatal neurodegenerative disease that can be passed on to children when both parents are carriers of an altered gene. Babies born with Tay-Sachs disease appear normal at birth, and symptoms of the disease do not appear until the infants are about four to six months of age when they begin to lose previously attained skills, such as sitting up or rolling over. Children then gradually lose their sight, hearing and swallowing abilities. These children usually die by the age of five.
If the carrier rate turns out to be high, than large –scale screening initiatives—like those conducted through the Victor Center for the Prevention of Jewish Genetic Diseases at Einstein and other facilities throughout the country—could identify carriers before they pass on the Tay-Sachs gene.
For more information contact Amybeth Weaver, MS , CGC at 484-636-4197 or Irish@tay-sachs.org.