At the Gaelic Games in Malvern, PA on July 28, there was one attraction with no clear connection to Irish sports. The Einstein Medical Center of Philadelphia was there, offering free screenings for Tay Sachs Disease for those of Irish heritage.
Tay Sachs is a fatal neurodegenerative disorder that can be passed on to children when both parents are carriers of an altered gene. Babies born with Tay Sachs appear healthy at birth, and frequently don’t begin exhibiting symptoms until four to six months of age, when they begin to lose previously attained skills such as sitting up or rolling over. The degeneration continues, gradually affecting their sight, hearing and swallowing abilities. Most children with Tay Sachs die by the age of five.
The disease was previously thought to be a genetic disorder specific to those of Jewish heritage, due to its prevalence among Ashkenazi Jews. However, over the last few years cases of Tay Sachs have been identified among the Irish population in the Philadelphia area. Dr. Adele Schneider, director of clinical genetics at Einstein Medical Center, has been studying the carrier rate among people of Irish heritage. The first of its kind among the Irish population, the study aims to screen 1,000 people. If it brings conclusive results, it may lead to the implementation of screenings that would identify carriers before they pass on the gene.
For more information, email Irish@tay-sachs.org