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  • Irish ancestry focus of Tay-Sachs families

    Published: 01/28/2013

    A Philadelphia doctor is trying to determine how prevalent Tay-Sachs is in the Irish community.

    Dr. Adele Schneider, director of Einstein Medical Center’s clinical genetics, is leading a study to determine whether carrier screening should be recommended for anyone of Irish descent. The goal of the study is to determine how high the carrier rate of the disease is in people of Irish descent.

    Tay-Sachs Disease is a fatal disease that is passed on to children when both parents are carriers of the gene mutation.

    While children born with the disease may appear normal when born, but symptoms of the disease will appear when the child is about four to six months old. They begin to lose growth skills, like sitting up or rolling over, which will progress to loss of sight, hearing, and ability to swallow. Children diagnosed with the disease usually die by five years old.

    “It’s devastating,” said Schneider.

    Historically, the disease has been prevalent in Jewish populations, however Dr. Schneider recently noted an increasing prevalence of the disease in Irish populations, such as with the Manning and Harney families of Chester County.

    Kathryn Harney, whose son, Nathan, was diagnosed with Tay-Sachs Disease when he was 10 months old, said that had she known that she and her husband could have been carriers, they would have gotten screened.

    “I wish we would have known earlier, but I’m glad we know now,” said Kathryn, a resident of Downingtown. “I mean, it is what it is. We can’t change it but I’m just glad we got a diagnosis and that we can be part of making sure that this stops.”

    Kathryn and her husband Aaron encouraged their relatives to get tested, and two of Kathryn’s sisters were found to be carriers. The Harneys are trying to raise awareness about the research being led by Schneider and Einstein Medical.

    Schneider said that after hearing about Nathan’s diagnosis, along with that of two other Irish children, she became aware for the need of information about Tay-Sachs Disease in Irish populations. Of those three children, only Nathan is still alive.

    (To read the whole story by Daily Local News reporter Sara Mosqueda-Fernandez, click here.)

  • Communications Team