Free screenings in Irish community for Tay-Sachs
PHILADELPHIA - March 27, 2013 (WPVI) -- Tay-Sachs used to be thought of as limited to those of Eastern European Jewish descent. But now doctors are seeing it in Irish families as well. One local family is sharing their story, to encourage others to be tested.
3-year-old Nathan Harney of Downingtown loves his swing.
But he can't really show it - Tay-Sachs disease is slowly paralyzing him.
At first, Nathan grew like any other baby -
Then parents Aaron and Kathryn Harney noticed Nathan started falling behind a family friend of the same age.
Aaron recalls, "He started passing Nathan as far as being able to walk, sit, all the catching."
As time passed, Nathan was regressing.
"When he was about 10 months to a year he could actually stand and hold onto a table and by 14 months, he could no longer stand," he continues.
"As time went on, it became more and more obvious," Kathryn adds.
After months of tests, doctors zeroed in on Tay-Sachs.
Dr. Adele Schneider is a genetics expert at Einstein Medical Center. She says Tay-Sachs used to be considered only a Jewish disease.
But in recent years, she's seen 3 babies of Irish descent with it in our area.
Nathan is only one still alive.
In Tay-Sachs, a broken gene causes toxic compounds to build up in the brain & spinal cord.
"As more & more of the toxic substances is deposited in the brain, they lose more & more skills," notes Dr. Schneider.
She says both doctors and the general public don't know Tay-Sachs is present in the Irish community.
"I went to a meeting of obstetricians and said I had just seen a baby with Tays-Sachs, what was his likely ethnicity? And everybody said Jewish," she explained.
And she said most current tersts won't find it.
"Right now, if you check off Tay-Sachs on any lab form,they're doing mostly Jewish mutations. So if you're Irish, that's a useless test," she says.
In addition to Ashkenazi Jewish and Irish, Tay-Sachs mutations have also been found among those of Cajun and French Canadian descent. Each group has slightly different mutations on the same gene.
Both Aaron and Kahryn Harney are healthy.
But because they carry the broken gene, their children have a 1 in 4 chance of developing Tay-Sachs.
Right now, no one knows how many are carriers in the Irish community.
"I have 4 brothers, none of them are carriers, but I am," says Aaron.
"She has 3 sisters, and all 3 of them are carriers," he says of his wife.
Dr. Schneider plans to screen 1,000 people to develop a reliable carrier rate.
To be eligible for screening, you have to be at least 18 years of age, have at least 3 grandparents of Irish descent, and give a small blood sample.
"If we find a carrier, they we will sequence the gene and find out their exact mutation. and this would be useful information for them and for the rest of their family," says Dr. Schneider.
Screenings will be held -
*Thursday, March 28 from 4:00 pm till 6:00 pm at Einstein Medical Center Montgomery, 559 W Germantown Pike, East Norriton, PA 19403
*Saturday, April 20 from 9:30 am till 11:30 am at the practice of Dr. John L. Sabatini, at 301 Oxford Valley Road, Suite 905A, Yardley, PA.
*Monday, May 13 from 12:30 pm till 2:30 pm at the Irish Center of Philadelphia (Commodore Barry Club) at 6815 Emlen Street, Mt. Airy
The Harneys says there is no known history of Tay-Sachs on either side of their family. However, a relative searching ancestral archives found some interesting entries - children listed as dying of 'starvation.' One hallmark of Tay-Sachs is the loss of swallowing ability.
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