(Pictured: Members of the Philadelphia Hurling and Camogie Team)
If you have Irish heritage but you don’t know about Tay-Sachs disease—and more to the point, if you haven’t been screened for it—then the Philadelphia Gaelic Athletic Association and Einstein Healthcare Network want to make it easy. You can learn more about this devastating genetic disease that affects children, and be screened on the spot during an afternoon of traditional Irish sports at the Philly GAA field in Pottstown, Pa. on Sunday, August 7, from 2-4PM.
Tay-Sachs is a severe neurodegenerative disease. Babies born with Tay-Sachs appear to develop normally after birth, but at about 4 to 6 months they start to lose skills. The disease progressively destroys nerve cells in the brain and spinal cord. Children born with Tay-Sachs usually don’t survive past their 5th birthday. Tay-Sachs is an inherited disease that only occurs when both parents carry a change in the Tay-Sachs gene and each parent transmits the altered gene to their child. Carriers show no outward sign and can only be identified through carrier screening (blood test). The gene can remain hidden in a family for decades, surfacing unexpectedly and tragically with the birth of an affected child.
Tay-Sachs disease is well known as a disease with a high carrier rate in the Jewish population, with one out of every 27 carrying an altered gene. (The carrier rate is about 1 in 250 among the general population.) However, research suggests the carrier rate might be as high as 1 in 50 among people of Irish heritage. Three Philadelphia-area families with Irish backgrounds have lost children to Tay-Sachs in the past few years. (Read: Nathan's Legacy: Raising Tay-Sachs Awareness among People of Irish Heritage.)
The fact that Irish and Irish-American people don’t know about this disease is a significant obstacle to nailing down that number.
“We’re telling people that they’re at risk for a disease that they’ve never heard about,” says Adele S. Schneider, MD, director of Clinical Genetics at Einstein Medical Center Philadelphia and principal investigator of the Irish Tay-Sachs Carrier Study. “That’s the hard part about this.”
Dr. Schneider and her team have been trying to get the information out to the Irish community, conducting screenings in a variety of settings, from the Irish Immigration Center of Philadelphia to festivals, such as the Mid-Winter Scottish & Irish Music Festival in Valley Forge and the Philadelphia Irish Festival at Penn’s Landing. The team recently conducted screenings in Boston at Irish Fest Boston.
Schneider and her team first started to make inroads in the GAA community last summer, sponsoring an Irish Tay-Sachs Carrier Study banner and holding screenings at the athletic association’s new field (945 Longview Road, in Pottstown, Upper Montgomery County).
The GAA is looking forward to sponsoring another screening this weekend.
“Anything we can do to help them out, we’re happy to do,” says the GAA’s Brian Sullivan, who also happens to be a MossRehab physical therapist. “It’s important work they’re doing. They’re helping us out, and we’re helping them out—it’s a no-brainer, really.”
Sullivan is a member of the Philadelphia Hurling and Camogie Team. Hurling is a physical, high-speed sport with ancient roots. Camogie is the women’s version of the sport. The other sport on display on Sunday will be Gaelic football, which bears some similarity to soccer.
Dr. Schneider recalls having a good turnout for screening at the field last year, and she’s expecting the same this year. She knows that getting the word disseminated more broadly will take time, but she is sure that once Irish and Irish-Americans know the details, they’ll be eager to be involved. “Educating a whole community takes time,” she says. “I don’t think it’s that they’re resistant. I think it’s just that they don’t know.”