The Irish American community is being warned about the risks and realities of Tay-Sachs disease, a fatal neurodegenerative disease for which an estimated one in 50 Irish and Irish Americans are carriers.

Tay-Sachs has a 25% chance of being passed on to children when both parents are carriers of an altered gene. Babies born with Tay-Sachs disease appear normal at birth, and symptoms of the disease do not appear until the infants are about four to six months of age when they begin to lose previously attained skills, such as sitting up or rolling over. Children then gradually lose their sight, hearing and swallowing abilities, and usually die by the age of five.

Currently, the only hope against Tay-Sachs is genetic screening. This is a common practice in the Ashkenazi Jewish community, where Tay-Sachs is prevalent. Because of this it was at one point believed to be a disease primarily affecting people of Jewish descent, but the volume of cases among those of Irish descent has proven that Tay-Sachs is found in groups where marrying within the community is common.

Two Philadelphia women – one Irish, one Jewish – have made it their mission to increase awareness about Tay-Sachs. Amybeth Weaver, a licensed genetic counselor with Einstein Healthcare Network, and Dr. Adele Schneider, head of the clinical genetics program at Einstein Medical Center, are campaigning fiercely to spread knowledge about Tay-Sachs within the Irish American community. All that is required for the screening is a basic blood test.

In a further effort, two mothers from the Philadelphia area recently spoke out about their heartbreaking experiences with Tay-Sachs.

In an interview with Mainline Today, Nancy Donegan and Eileen Kenny spoke about their experiences with Tay-Sachs. Donegan’s daughter Stefanie, was diagnosed 26 years ago at the age of two. By three-and-a-half she had lost the ability to walk and was put on a feeding tube. She lived to be eight, spending the last three years of her life in a vegetative state. Donegan recalled how her daughter “suffered unbelievably. I miss her every day.”

Kenny’s son Danny, now two years old, was diagnosed with infantile Tay-Sachs when he was just six months old. Today, he no longer has control over his limbs and facial muscles. He has lost the ability to swallow, with his parents now responsible for suctioning the saliva out of his mouth. Kenny explained, “Danny used to babble, but he doesn’t anymore… He doesn’t laugh; he doesn’t cry; he doesn’t smile. He’s 2 years old, and he doesn’t make any noise. He’s just quiet.”

Though their children’s diagnoses came almost three decades apart, Donegan and Kenny were equally unaware of the risks of Tay-Sachs. Donegan is of Irish, English, French Canadian, and Italian heritage, and her ex-husband was of Irish descent. Kenny is a first-generation Irish American on both sides of her family and her husband had Irish grandparents on one side. Neither of them had any idea they could be carriers of Tay-Sachs. This is why they are helping to spread awareness.

“I can’t imagine life without Danny. He gives us love, and we love him. But Tay-Sachs disease is a horrible thing. It’s devastating to watch him suffer,” Kenny said.

In order to gather more accurate data on Tay-Sachs among people of Irish descent, Weaver and Dr. Schneider are conducting the Irish Tay-Sachs Carrier Study, through which they offer free genetic testing to people with at least three grandparents of Irish descent. The study is a joint project of Einstein and the National Tay-Sachs & Allied Diseases Association of Delaware Valley.

For more information, contact Amybeth Weaver at [email protected] or call (484) 636-4197.

Correction: An earlier version of this article incorrectly stated that Danny Kenny was three years old, he is two. It also stated in error that he had lost the ability to walk; Danny was never able to walk.