On September 7, Tay-Sachs disease researchers from Einstein Medical Center in Philadelphia are coming to New York to conduct a study that will determine the carrier rate of Tay-Sachs disease among the Irish.
The disease has always been most prevalent in the Ashkenazi Jewish community (Jewish people with European ancestry), and since screening among Jewish couples has become routine, the number of babies born with Tay-Sachs has reduced immensely.
Now, researchers are focusing their efforts on other ethnic groups, like French Canadians and the Irish. Scientists have recently estimated that the risk for a person of Irish ancestry to inherit the disease is one in 50, whereas in the general population the chance is one in 250.
Tay-Sachs disease is a fatal, hereditary neurodegenerative disease that begins to show symptoms in babies at around four to six months of age. It is caused by the mutation of a gene called Hexosaminidase A, which causes a fatty substance to accumulate in the brain, eventually ravaging the nervous system. Infants will begin to lose sight and hearing, the ability to swallow and move freely, and will eventually become paralyzed. Children with Tay-Sachs disease very rarely survive past five years old.
A child has to receive two copies of the defective gene, one from each parent, in order to develop the disease. For Ashkenazi Jews, the risk of being born with Tay-Sachs is as high as one in 25.
On September 7 from 10 am to 2pm, Einstein Medical Center doctors will offer free screenings (a simple blood test) to at least 1,000 Irish people in Pearl River, New York. If you are over 18 and have at least three grandparents of Irish descent, you are eligible for participation. Participants will make a huge contribution to the study and potentially save many lives. They will be notified of the results.
Additionally, the National Tay-Sachs & Allied Diseases Association will hold a Family Fun Walk in the Central Avenue Field in Pearl River to raise awareness in the Irish community. The event honors Danny Kenny, a two-year-old with Tay-Sachs disease.
For more information, contact Amybeth Weaver at 484-636-4197 or email Irish@tay-sachs.org.