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Tay-Sachs disease

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Inside the Irish Tay-Sachs Study

Bill Ryan and nurse Maria Miranda

Bill Ryan is assistant vice president in the department of government affairs for the Albert Einstein Healthcare Network. Today, sitting in a cramped lab area of the Einstein Medical Center, with his sleeves rolled up and a rubber tourniquet stretched around his upper arm, he looks like a patient, but he’s not. Maybe more like a guinea pig.

Rows of blood sample tubes are arrayed in racks on a table in front of him. They look like little church organ pipes. Nurse Maria Miranda swabs alcohol onto a small patch of skin on Ryan’s arm, and then, with the ease of someone with long practice, she inserts a needle. Soon one of those tubes is filling up with Ryan’s blood.

Ryan confesses to a bit of trepidation, but he’s really OK with it. This small donation is for a very good cause.

Ryan—whose name probably betrays his ethic heritage—is being tested to see if he is a carrier for Tay-Sachs, a rare, inherited neurodegenerative disorder that claims the lives of children who are afflicted with it, typically before they reach their fifth birthday.

It’s a pretty altruistic way to spend part of your St. Patrick’s Day.

Ryan is not alone. On a day far too often given over to partying, staffers at Einstein are observing the saint’s feast day in a way that is actually more in keeping with a saint’s feast day. They’re trying to raise awareness to what is believed to be a relatively high Tay-Sachs carrier rate among people of Irish descent. They’re wearing green, everything from cable knit fisherman sweaters to shiny plastic shamrock beads. At least one is wearing a kilt—in the national tartan of Ireland, of course.

And like Ryan, if they claim Irish heritage, they’re dropping by the lab to donate a bit of blood—all in the cause of determining exactly what that carrier rate is.

“I’m aware of Tay-Sachs, and the devastation that it causes,” says Ryan. “A least I can contribute in a small way.”

Tay-Sachs is commonly associated with Jews of Central and Eastern European descent. And with good reason. The Tay-Sachs carrier rate in the general population is 1 in 200 to 1 in 250. Among Ashkenazi Jews, the carrier rate is from 1 in 25 to 1 in 30.

Less well known is the disorder’s high carrier rate among other ethnic groups, including French Canadians, the Cajuns of Louisiana, and the Amish.

Einstein researcher and pediatrician Adele Schneider is intensely interested in nailing down the carrier rate among the Irish. Here’s why she’s so interested. Within the past several years, three new cases of Tay-Sachs were diagnosed in the Philadelphia area: all of them in children born to parents of Irish descent.

“It is remarkable,” Schneider says. “Until now, I had never seen a living child with Tay-Sachs, so uncovering three of them, all of them in this area, all of them in children in Irish descent … that would be pretty remarkable.”

Remarkable, yes—and heartbreaking.

Some medical literature suggests the carrier rate among the Irish might be 1 in 50. But there are other estimates, too, and they’re all over the place. Schneider suspects the less extreme estimates are likely to be more on target.

“I’ve read everything from 1 in 8 to 1 in 400—which is obviously wrong,” says Schneider. “We think it’s going to be something in between, about 1 in 50. That’s the empiric number we’ve been using, but we don’t have any data yet to support that. But even if we don’t come up with an absolute number, there’s enough reason to be concerned and the Irish community should know more about this.”

One way Irish-Americans and the Irish living in this country will come to know about Tay-Sachs will be through screenings just like the one at Einstein on St. Patrick’s Day.

“Today is just one in a series of screening we’re doing,” says Rebecca Tantala, executive director of the Delaware Valley Chapter of National Tay-Sachs & Allied Diseases Association, and Einstein’s director of grants, foundation & contracts, who was on hand at Einstein on St. Patrick’s Day. “We need 1,000 blood samples. We’re hoping for 600 or so locally, but we may also be going to Boston and New York. We’re looking for it to be a geographically diverse selection of individuals.”

No one can be sure when the researchers will hit that magic number, but, says study coordinator Amybeth Weaver, “we’d like it to be in the next year. The sooner we get 1000 individuals, the sooner we can complete the study.”

For Adele Schneider, that day can’t possibly come soon enough.

“To have a child coming into my office and to have to make that diagnosis … it was devastating to have to tell the parents, your child is not going to survive. This is not what I want to do. I want to say, let’s take steps to have a healthy child. It’s just so sad.”

Testing is provided at no cost. Study participants will be informed of their carrier status, and genetic counseling will be provided. The Einstein study is funded by the National Tay-Sachs & Allied Diseases Association of Delaware Valley. For details: http://www.tay-sachs.org/irish_taysachs_study.php

April 4, 2014 by Jeff Meade

News, People

The Irish Risk for Tay-Sachs Disease

Cathy and Jeff Mitchell with a photo of their late son, Harrison, who had Tay-Sachs.

When Cathy Mitchell’s son, Harrison, was diagnosed with Tay-Sachs disease, she and her husband, Jeff, were devastated–and more than a little confused.

“I thought Tay Sachs was a Jewish disease,” says Cathy. The Mitchells, who live in Langhorne, then learned that this deadly inherited disease, which cripples and kills, is common among people of Irish descent. As many as 1 in 50 Irish Americans is a carrier.

Children can only inherit the disease when both parents carry the trait; with every pregnancy, a couple runs a 25 percent chance of having a child with Tay Sachs and a 50 percent chance of having one who is a carrier but doesn’t have the disease. Cathy and Jeff Mitchell are both carriers.

“I didn’t even know I was Irish,” said Jeff Mitchell, who, with his wife and another couple–Aaron and Kathryn Harney of Downingtown—manned an information booth on Tay Sachs at the recent Irish Festival on Penn’s Landing. Mitchell hadn’t been close to his father’s side of the family and only learned after Harrison was diagnosed that his grandfather was Irish.

Like other children with Tay-Sachs, Harrison seemed like a perfectly normal baby when he was born. But at six months, he began showing troubling symptoms. “Harrison didn’t sit up. His muscle tone was weak,” says Jeff, a shop foreman at a truck equipment company. “When you would pick him up he would fall over. He startled to loud noises. He rolled over once and then never rolled over again.”

When Harrison seemed to have trouble seeing toys in front of him, the Mitchells took him to their pediatrician who, says Jeff Mitchell, “kept pushing it off on the fact that Harrison was born a month early,” implying he was experiencing normal developmental delays. Eventually, the Mitchells took their baby to a pediatric opthamologist who saw a cherry-red spot on his retina, a physical marker of Tay-Sachs.

The disease is a particularly cruel one. New parents come home with an infant who appears to be healthy and normal, but is lacking an important enzyme, hexosaminidase (Hex-A), that helps clear out fatty protein and other substances from the tissues and nerve cells of the brain. That regular housecleaning allows the infant to develop vision, hearing, movement, and other vital functions. For a few months, the Tay-Sachs babies grow and develop as babies do—cooing, reaching for toys, smiling, laughing, turning over.

But as those proteins build up in the tissues and nerve cells, a relentless deterioration of physical and mental abilities begins. Children lose their sight and hearing. Their muscles atrophy and they become paralyzed. Eventually, they’re unable to swallow, and they develop seizures and dementia. Most children born with Tay-Sachs die by the time they’re five. “They just slowly fade away,” says Jeff.

In 2010, Harrison Mitchell died just shy of his sixth birthday.

Kathryn and Aaron Harney of Downingtown, with their son, Nathan, who has Tay-Sachs.

Unfortunately, most doctors don’t encourage any but their Jewish patients—particularly Ashkenazi Jews–to be tested for Tay-Sachs. They also may not recognize the symptoms when they see them in children like Harrison. Like the Mitchells, Kathryn and Aaron Harney saw doctor after doctor before their son, Nathan, now 18 months old, was diagnosed—again, by a pediatric opthamologist. “A lot of doctors looked and us and said, ‘Well, you’re first-time parents. . . .,” says Kathryn Harney, Nathan slouching on her lap, his hazel eyes wandering, unfocused.

Like the Mitchells, they Harneys didn’t know that Tay-Sachs is common among the Irish. After they were tested, Aaron Harney learned that he carries a strain common among French Canadians. “I didn’t realize I had French Canadian ancestors,” he says. Tay-Sachs is even more common in French Canadians and Cajuns than in the Irish—an estimated 1 in 27 carry the trait, the same as Ashkenazi Jews. Nathan also has a rare form of Tay-Sachs that more often occurs in older children. “That gives us some hope that he might survive longer,” says Kathryn.

There’s no cure for Tay-Sachs, but it can be prevented with genetic screening. The National Tay-Sachs & Allied Diseases Association of the Delaware Valley offers free Tay-Sachs screening to anyone over the age of 18. Researchers at Einstein Medical Center’s Genetics Division in Philadelphia are now conducting a study to determine an accurate carrier rate for Tay-Sachs disease in the Irish and to identify the most common gene changes in this demographic. If you qualify for the research project (you must have at least three Irish grandparents), you will be screened for free and also get genetic counseling to explain your results and discuss your options.

For more information about Tay-Sachs disease carrier screening or to participate in this study, contact Amybeth Weaver, MS, CGC at irish@tay-sachs.org or call 215-887-0877. You can also go to the website and download a brochure that explains the Irish connection to Tay-Sachs.

Eight weeks after Harrison died, the Mitchells went to their first information session to help spread the word about the disease and especially to let others know that the Irish are among the most vulnerable populations. Last March, they manned a stand at the Bucks County St. Patrick’s Day Parade in Levittown (they serve on the parade committee) where they sold T-shirts, hats, and souvenirs to raise money for the parade—and passed out Tay-Sachs pamphlets for free.

“It’s important to us to raise awareness about Tay-Sachs,” says Cathy. “We need to get the word out there that it affects everybody.”

July 2, 2012 by Denise Foley