In Harrisburg, a Push to Require More Disease Testing for Newborns
State lawmakers may have the go ahead from the governor for legislation to make sure newborns are tested for a number of degenerative diseases affecting the nervous system.
Krabbe leukodystrophy is on the list of diseases that can go undetected until it’s too late because Pennsylvania doesn’t require newborns to be screened for it.
Vicki Pizzullo knows the pain of hearing such a diagnosis and is urging lawmakers to mandate the testing.
Her 9-month-old daughter Hannah was diagnosed with Krabbe too late to receive treatment.
"Most parents with babies Hannah’s age are planning their first birthday parties," Pizzullo said. "I can’t help but wonder, will we be planning her funeral? 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 is also urging for a change to the required testing law.
The western Pennsylvania native started advocating for expanded testing after his son received a late diagnosis in 1997.
The commonwealth requires newborns to be tested for six genetic and metabolic diseases and recommends testing for another 22 diseases.