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By CHRISTOPHER JOHNSON chrisj@leader.net
Saturday, February 05, 2000 Page: 1A
KINGSTON – Robin Palladino of Kingston says her healthy 6-month-old son
might not be alive today if he didn’t receive a simple $25 test at birth.
Christopher was born at Nesbitt Hospital, one of several area hospitals
that offer supplemental metabolic testing, a blood test for 30 rare but
devastating genetic metabolic diseases.
Dr. Edwin Lyons of Kingston, Christopher’s pediatrician, said Christopher
was the first child in the area and possibly the first in the country
diagnosed with a metabolic disease through the test.
Christopher has Cobalamin C deficiency, which prevents his body from
breaking down certain types of food properly. Without the test, it could have
been weeks or months before Christopher showed symptoms of his disease. By
then, he might have suffered brain damage, blindness or died.
“If they didn’t do the screenings there at Nesbitt, I don’t know what
would have happened,” Palladino said.
Luzerne County hospitals including Mercy, Hazleton St. Joseph Medical
Center and Geisinger Wyoming Valley Medical Center offer the testing as part
of their normal newborn service. But the test is not covered by medical
insurance, it’s not required by law and many hospitals outside Pennsylvania
don’t do it all.
“I just feel that it’s really important,” Palladino said. “The expense
doesn’t compare to all the lives they’re going to save.”
All Pennsylvania hospitals must test every newborn for two rare diseases
that cause retardation if untreated: hypothyroidism and the metabolic disease
phenylketonuria. They also are required by law to test each baby for sickle
cell disease and maple syrup urine disease, said Rose Manbachi, clinical nurse
specialist in Nesbitt’s newborn nursery.
The extra batch of metabolic tests uses technology called tandem mass
spectrometry. It requires a drop of blood, costs less than $25 and takes only
minutes for results. Many hospitals that offer the test waive the cost.
“It’s almost ludicrous if a hospital does not do it,” Manbachi said. “I
know for sure that we’ve picked up three (children with) really rare
disorders, which doesn’t sound like a lot, but when you’re talking to a
family, it means a lot.”
Officials at local hospitals said supplemental testing has been embraced
here during the past three years, with Nesbitt leading the way. Like about
two-thirds of Pennsylvania hospitals, the locals hire Pittsburgh-based Neo Gen
Screening for testing.
Sandy Fassett, nurse manager in the obstetrics department at Mercy, said
some inherited metabolic disorders can mimic sudden infant death syndrome and
shaken baby syndrome.
“There are people out there who probably have lost children to those
diagnoses who may have had a genetic problem instead, before this test was
available,” she said.
Altogether, the rare metabolic diseases strike about one in 5,600 births.
Christopher is treated with injections of vitamin B-12, two types of amino
acids and a protein-restricted diet. Palladino said that with a strict diet
and regular checkups, doctors expect Christopher to lead a healthy, normal
life. She compared his situation to someone with diabetes.
Lyons said Christopher’s prognosis is only that good because of the Neo Gen
Screening. “The fact that this was caught early and so forth is very much in
his favor and so far he’s coming along like a normal 6-month-old.”
Parents can seek supplemental metabolic testing on their own from Neo Gen
if their hospital doesn’t offer it.
The Associated Press contributed to this report.
Call Johnson at 829-7226.