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.
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.