“Pennsylvania tests newborns for only a very limited number of diseases, and ranks at the bottom when compared to other states,” said DiGirolamo, chairman of the House Human Services Committee. “By expanding the program so that even more diseases and conditions are tested and finding a way to fund those tests, we can help to save the lives of children who otherwise have little hope of overcoming their illnesses. By the time many of the diseases included in other states’ screening programs are detected in Pennsylvania infants, it can likely be too late. This legislation we passed today will save lives, and I’m proud to play a small part in helping to make that happen.”
The committee unanimously reported out three bills. House Bill 1334, which DiGirolamo sponsored, would establish the Newborn Child Screening Program Account in the State Treasury and expand the number of diseases that are required to be tested, based on federal guidelines.
Under DiGirolamo’s legislation, the Department of Health is directed to impose a fee on birthing hospitals for each newborn child screened for heritable diseases, which will be deposited into the Newborn Child Screening Program Account. The fees collected will fund the tracking of screening outcomes, follow up and referral for treatment for identified infants up to the first year of life. Currently, the cost to screen for six diseases is about $24. To expand that list, the cost would only rise to a total amount of $60 per child and would likely be covered by insurance, Medicaid or the Children’s Health Insurance Program (CHIP).
In addition to the DiGirolamo bill, the committee reported out House Bill 1420, which would require pulse oximetry testing for newborns to help detect congenital heart defects, which are the most common birth defects across the nation; and House Bill 1654, which would add Krabbe disease and five other lysosomal storage disorders to the list of diseases to be screened at birth. Infants born with these disorders, which are caused by a deficiency of specific enzymes required for the breakdown of nutrients, appear normal at birth and symptoms do not usually show until the child is between three and six months old, often too late for treatment.
Under current law, all newborn children are screened for six genetic and metabolic diseases and screening for an additional 22 genetic and metabolic diseases is recommended. When screening results are abnormal, the Department of Health provides follow-up services including case management, confirmatory testing, assessment, diagnosis and referral. The Newborn Child Screening and Follow-up Program is funded through federal and state dollars.
DiGirolamo explained that early detection and treatment of genetic and metabolic diseases often means the difference between severe physical disability, intellectual disability or possible death and the ability to live a normal life. No dollar amount can be placed on the lifelong costs to families and infants with a missed diagnosis. However, the lifelong cost to support an individual with an intellectual disability has been estimated to be $1,014,000 over and above the costs to support an individual with no disability.
“As technology improves, more infants can be identified and treated, preventing lifelong disability and possible death,” DiGirolamo said. “With early detection and treatment the long-term effects of these diseases will be less detrimental to the child and family and the financial impact less burdensome.”
The bills now heads to the full House for consideration.
Pictured, State Rep. Gene DiGirolamo at the Oct. 21 press conference with Rep. Angel Cruz (D-Philadelphia), author of one of the bills, and Jim Kelly, Hall of Fame quarterback and founder of the Hunter’s Hope Foundation, which raises awareness of Krabbe disease.
House GOP photo