Non-Jews Hit by ‘Jewish’ Diseases Fall Through the Cracks of Genetic Screening

Researchers Push for More Universal Testing

Family History: The chair of the Jewish Genetic Disease Consortium (second from left) and her husband, Jordan, in a family portrait, hold children Jonathan and Lauren who have ML4, a genetic metabolic disease.
Courtesy of Randy Yudenfriend-Glaser
Family History: The chair of the Jewish Genetic Disease Consortium (second from left) and her husband, Jordan, in a family portrait, hold children Jonathan and Lauren who have ML4, a genetic metabolic disease.

By Gabrielle Birkner

Published August 11, 2013, issue of August 16, 2013.
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For three days in April, about 70 families whose lives have been upended by Tay-Sachs disease gathered in San Diego for the annual National Tay-Sachs and Allied Diseases conference. The event — which attracted families caring for children with Tay-Sachs, as well as those who have lost loved ones to the degenerative disease that claims most of its victims by age 4 — included forums on symptom management and new research frontiers. There were also support group sessions and a candle-lighting ceremony honoring those who had died.

Tay-Sachs is probably the best known “Jewish” disease. As many as one in 25 Ashkenazi Jews is a carrier of the defective recessive gene. Yet, among the conference attendees, who came from as far away as Poland and Guatemala, only a handful were Jewish. “When I speak with newly diagnosed families, they often say, ‘But we’re not Jewish,’” said Kimberly Kubilus, NTSAD’s director of family services.

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Today, the vast majority of babies born with the disease are not Jewish. Of the approximately 15 new infantile Tay-Sachs cases diagnosed in the U.S. each year “maybe one is from a Jewish family,” Kubilus said. The disease leads to paralysis, blindness, seizures and eventually total incapacitation and death.

At a recent conference on Canavan disease — for which one in 40 Ashkenazi Jews is a carrier — Canavan Foundation President Orren Alperstein met just one family that reported Jewish ancestry. The other 15 or so families she encountered were not Jewish. “I was surprised by [the demographic makeup], but more surprised that there were several families there who had more than one child with Canavan,” said Alperstein, whose 7-year-old daughter, Morgan, died of the disease in 1997.

Canavan, which is generally diagnosed in infancy, results in severe mental retardation and paralysis. The average life span of a child born with the disease is three to 10 years, though there have been rare cases of those surviving into their 20s. Like Tay-Sachs and other illnesses under the “Jewish genetic disease” umbrella, it is an autosomal recessive disease, which means that two carrier parents have a one in four chance of having an affected child.


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