Pennsylvania Rare Disease Council Applauds Enactment of Legislation to Improve Newborn Screening

HARRISBURG, PA – The Pennsylvania Rare Disease Advisory Council (PARDAC) hailed the recent passage of Act 133 amends the Newborn Child Testing Act to mandate that 37 disorders be screened at birth. Newborn screening is one of the most critical public health programs in the United States. Before this legislation, in addition to tests for hearing loss and cardiac defects, only ten mandated tests for rare genetic and metabolic diseases were required at birth for the more than 130,000 babies born each year in Pennsylvania. If babies are not tested and treatment is not started early for many disorders, the consequences can be devasting and even deadly.

“NORD supports robust newborn screening programs in every state and applauds the efforts of the legislators and advocates working to improve newborn screening in Pennsylvania,” shared NORD state director Anissa Reed.

The Senate bill’s catalyst was the parents of Victoria “Tori” Brackbill, who passed away from Krabbe disease in 2016. Krabbe disease will be one of the 37 disorders screened at birth for the more than 130,000 babies born each year in Pennsylvania. “Our Council continues to be in awe of parents like Brennan and Lesa Brackbill and the thousands of other parents and families who have chosen to take their personal tragedy and turn it into advocacy and awareness for the estimated 1.2 million Pennsylvanians with a rare disease,” shared Marie Conley, PARDAC chair. “We commend Representative Angel Cruz (D-180), Senator John DiSanto (R-15), and the entire legislature and Governor Tom Wolf for their efforts to improve newborn screening.” In addition to increasing the number of mandated newborn screening tests, Act 133 provides a non-legislative mechanism for expanding the panel that will be driven by the best medical evidence.

“Newborn screening saves lives – thousands and thousands of lives over the past few decades. All were saved because of a simple and inexpensive test given at birth: public health at its best. All Pennsylvania babies share in that benefit and will have that benefit expanded by this new law,” commented Dr. Jerry Vockley, member of the PARDAC, Chief of Medical Genetics and Director of the Center for Rare Disease Therapy at UPMC Children’s Hospital of Pittsburgh, and former chair and current member of PA Newborn Screening and Follow-up Technical Advisory Board.

The Council serves as an advisory body on rare diseases to the General Assembly and all other relevant state and private agencies that provide services to or are charged with the care of individuals with rare diseases. Its mission is to improve the quality of life for all those affected by rare diseases in Pennsylvania. The Council was created through legislation (House Bill 239) and signed into law as Act 14 on July 7, 2017, by Governor Wolf. It consists of secretaries of Health, Human Services and Education; Insurance Commissioner and members of the public, including various health practitioners, health insurers, researchers, parents of children with rare diseases, self-advocates, and others with expertise in providing care to individuals with rare diseases.

PARDAC recently unveiled a rare patient needs assessment survey and encourages all rare patients to participate at www.pardac.org.