Nancy Donegan and Eileen Kenny both reacted the same way when each learned the diagnosis: “But we’re not Jewish.”
When the tragic news came, Stefanie Donegan was 2, and Danny Kenny was just 6 months old. They were diagnosed with Tay-Sachs disease at the Children’s Hospital of Philadelphia—27 years apart. The time in between has been filled with advances in medicine. Yet there remains surprisingly little awareness that this debilitating, fatal disease is also prevalent in the Irish community.
Two women—one Irish, one Jewish—want to change that: Amybeth Weaver, a licensed genetic counselor with Einstein Healthcare Network, and Dr. Adele Schneider, head of the clinical genetics program at Einstein Medical Center and director of its Victor Center for the Prevention of Jewish Genetic Diseases.
Contrary to myth, Tay-Sachs is not just a Jewish disease. It spreads through communities in which intermarriage is common, including the Irish. How widespread is the disease? To answer that question, Schneider and Weaver are conducting the Irish Tay-Sachs Carrier Study, a joint project of Einstein and the National Tay-Sachs & Allied Diseases Association of Delaware Valley. As part of their research, they’re offering free genetic testing to people with at least three grandparents of Irish descent.
What’s known so far: An estimated one in 50 people with Irish backgrounds is a carrier. For a child to be born with the disease, both parents must be carriers. In those cases, there’s a 25-percent chance, with every pregnancy, of having a child with Tay-Sachs.
Neither Eileen Kenny nor Nancy Donegan knew any of this. A special- education teacher at Upper Merion Area High School, Kenny is first-generation American. Her parents were born in County Mayo; her husband, Steven, has one set of grandparents also born in Ireland. Donegan’s melting pot of genetics includes Irish, English, French Canadian, and Italian. Her ex-husband’s family is Irish. Tay-Sachs hadn’t struck either family.
At first, Danny and Stefanie were seemingly healthy babies. Pretty quickly, though, their mothers were convinced something was wrong. Danny wasn’t focusing his eyes on his mom. Stefanie’s leg muscles were weakening, and her balance was irregular. Pediatricians told them they were worrying too much. Still, they pushed for answers from doctor after doctor.
How could either be prepared for Tay-Sachs? The incurable disease renders kids paralyzed, mute and blind, usually killing them by age 10. It’s caused by the lack of hexosaminidase A (HEXA)—one of those things you don’t know about until it causes problems. In normal bodies, HEXA breaks down a fatty waste substance found in brain cells. With Tay-Sachs, the substance accumulates, disabling the nervous system bit by bit.
Donegan’s daughter lost the ability to walk at 3½. Soon after, she had to have a feeding tube inserted.
Danny was in the same situation by the time he was 2. He can’t swallow his own saliva, so his parents must suction his mouth to avoid choking. He can’t control his limbs, his head, or any of his facial muscles. Even the ones that work his vocal cords have failed. “Danny used to babble, but he doesn’t anymore,” Kenney says. “He doesn’t laugh; he doesn’t cry; he doesn’t smile. He doesn’t make any noise. He’s just quiet.”
Stefanie spent her last three years in a vegetative state, lying in a crib at home. She lived to be 8—but it wasn’t really living, her mom says. “My daughter died 20 years ago, and she suffered unbelievably,” Donegan says. “I miss her every day.”
Pain this sharp and deep is impossible to explain with words. But Donegan’s and Kenny’s actions speak loudly. Both have become advocates for Tay-Sachs awareness in the Irish community. Everyone, they say, should get tested for Tay-Sachs.
Drawing blood is all that’s required. But dealing with the results can be tough. “People [think they] can’t have children, and that’s not true,” Weaver says. “Part of the process is speaking with a genetic counselor like me. We educate people about their options.”
They include in vitro fertilization and preimplantation genetic diagnosis. With this process, embryos are created, then tested for Tay-Sachs. Only those lacking the mutation are implanted into the mother for gestation.
Of course, none of that is easy, but it’s a far better option than having a baby with Tay-Sachs.
“I can’t imagine life without Danny,” says Kenny. “He gives us love, and we love him. But Tay-Sachs disease is a horrible thing. It’s devastating to watch him suffer.”
To learn more about the Irish Tay-Sachs Carrier Study, contact Amybeth Weaver at firstname.lastname@example.org or (484) 636-4197.
Source: National Tay-Sachs & Allied Diseases Association of Delaware Valley
1 in 250
1 in 50
1 in 50
1 in 27
Jews of Eastern European descent
1 in 27