State House Sound Bites

Capitol reporter Mary Wilson covers Pennsylvania politics and issues at the Pennsylvania state capitol.

For newborns, a push to require more disease testing

Written by Mary Wilson, Capitol Bureau Chief | Oct 21, 2013 8:06 PM
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Photo by Mary Wilson / witf


State lawmakers say they have the support of Gov. Corbett for legislation to make sure newborns are tested for a number of degenerative diseases affecting the nervous system.

Krabbe leukodystrophy is an inherited disease that can go undetected until it's too late because Pennsylvania doesn't require newborns to be screened for it. Vicki Pizzullo of Bucks County knows the pain of hearing such a diagnosis - it was doctors' eventual conclusion after her daughter Hannah, born in January, became inconsolable. Treatment wasn't an option.

"They told us it was too late because Hannah has had symptoms," Pizzullo said, choking back tears at a press conference in the Capitol. "They told us there is nothing more they can do for us. At five months old, Hannah was sent home with Valium and Tylenol."

Pizzullo wore a t-shirt bearing her daughter's name, styled as if it were a fan's jersey. Her daughter is about nine months old and needs round-the-clock medical care.

"Most parents with babies Hannah's age are planning their first birthday parties. I can't help but wonder, will we be planning her funeral?" said Pizzullo. "All this could have been prevented by a simple blood test at birth. By the time most babies are diagnosed with this disease, it's too late."

NFL Hall of Famer and former Buffalo Bills quarterback Jim Kelly also urged lawmakers for a change to the required testing law. The western Pennsylvania native started advocating for expanded testing after his son, Hunter, received a late diagnosis in 1997.

"When Hunter was born in the state of New York, they were testing for 11 diseases," Kelly said. "Mississippi was at 45, Illinois, 51. So many states were testing more than our state of New York, where I'm living now. As a matter of fact, Pennsylvania is one of the worst for mandated testing for diseases."

Pennsylvania requires newborns to be tested for six genetic and metabolic diseases and recommends testing for another 22 diseases.

State House lawmakers are proposing to add at least 25 more diseases to the list of required newborn screenings. They don't expect additional testing to be cost-prohibitive.

"For the six diseases right now, it's $24," said Rep. Gene DiGirolamo (R-Bucks). "When we include Krabbe and the other 25 that I'm going to do it for, it's just an additional $36. So it just goes from $24 to $60 to pay for this screening - this critically important, life-saving screening."

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