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Irish at Risk for Tay-Sach’s

By Matthew Skwiat, Contributing Editor
August / September 2015

July 24, 2015 by Leave a Comment

A growing awareness within the medical community of the risks of the auto-degenerative disease Tay-Sachs and its prevalence within the Irish and Irish-American community is on the rise. Before pandemonium spreads, it is important to note that fewer than 30 children in America are afflicted with the disease each year and that one in 300 are estimated to have a faulty gene that can lead to the deadly disease. That number drops however for people of Irish descent; one in 50 are believed to be carriers, although scientific sources differ on that number.
Tay-Sachs is a rare disease that is passed down to the child when both parents are carriers, occurring in about one out of four cases. The child is initially born healthy, but symptoms crop up around four to six months of age as motor skills break down. This eventually leads to eyesight and hearing loss as well as difficulty swallowing. The disease was initially thought to have been common among Jews of Eastern and Central European ancestry, but further testing has proven that Irish and Irish Americans are also at risk. Miriam Blitzer a professor and geneticist at the University of Maryland School of Medicine says, “it is not an exclusively Jewish genetic disease.”
The key to prevent the spread of Tay-Sachs is through testing and combating false notions about the disease. Kathryn and Aaron Harney of Downingtown, PA were initially told by their doctor that “it was only a Jewish disease,” before finding out that their two-year-old had Tay-Sachs. Today the couple, along with many other Irish and Irish-American families, are spreading the word about testing for Tay-Sachs.
In 2012, a study was launched by the Einstein Medical Center Philadelphia which enrolled 1,000 people with at least three of four grandparents who could trace their Irish ancestry.
The tests get trickier for those with a murkier background as Dr. Michael Kaback, emeritus professor of pediatrics at the University of California, pointed out: “What do you do with someone with one English, one Scottish, one Irish, and one American grandparent? Are they Irish or not Irish?”
Regardless of the grey areas of genealogy, more and more studies and screenings continue to be offered every year. In our August/September issue of 2013 we reported on the free screenings offered at the Gaelic Games in Malvern, PA, which was again made possible by the Einstein Medical Center.
More testing needs to be completed, but raising awareness is key. ♦
The Facts About Tay-Sachs:

• It is an inherited disease which occurs when both parents carry a Tay-Sachs gene.

• If both parents are carriers, there is a one in four chance of the child having the disease.

• There is zero percent chance of diagnosis if only one parent is a carrier.

• 1 in 50 of Irish descent are thought to be carriers.

• Blood test screening is the simplest and most common preventative measure.

• It is most common among people with Eastern and Central European Jewish ancestry.

Currently there is a study being conducted by the National Tay-Sachs and Allied Diseases Association of Delaware Valley. Volunteers with at least three Irish grandparents are needed in an effort to determine the carrier status of Tay-Sachs. Participation is free and requires only one blood test.
For more information visit: www.tay-sachs.org/irish_taysachs_study.php Or contact Amybeth Weaver, M.S., C.G.C.: irish@tay-sachs.org or 215-887-0877.

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