Rep. Ann Flood speaks during a news conference last week in Harrisburg. Her legislation adding Duchenne muscular dystrophy to the state’s Newborn Screening Program passed the House of Representatives Health Committee last week with support from state Rep. Kathy Rapp, R-Warren.

The state House of Representatives Health Committee has approved legislation adding Duchenne muscular dystrophy and Gaucher disease to the state’s Newborn Screening Program.

While state Rep. Kathy Rapp, R-Warren and the committee’s minority party chair, voted for the bills, she also said legislative action shouldn’t be needed in the first place.

“While there is a process in place for the Newborn Screening and Follow-up Technical Advisory Board (NSFTAB) to add diseases to the program without legislation, we’ve heard concerns about a lack of urgency from the board to do so,” Rapp said. “I do hope the board considers these two diseases far quicker than legislation can be passed, but these bills serve as solid backup plans to ensure these diseases can be detected as early as possible.”

House Bill 1715 would add Duchenne muscular dystrophy to the program and House Bill 1652 would add Gaucher disease to the program. House Bill 1715 is sponsored by Republican Ann Flood, with bipartisan cosponsorship from Republican Bud Cook and Democrats Tim Briggs, Gina Curry and Jeanne McNeill.

“Right now, DMD is not included in our newborn screening panel. That means children often endure years of testing, unanswered questions and delayed treatment. Families face emotional and financial strain while searching for a diagnosis that could have been discovered at birth,” Flood wrote on Facebook on Wednesday. “Early detection opens the door to timely medical care, access to therapies and participation in clinical trials. There are eight FDA approved treatments available today, and many can be started at any age.

Identifying DMD early can dramatically improve long term outcomes for children and help families understand if others may also be carriers.”

House Bill 1652 is sponsored by Democratic Party Rep. Abigail Salisbury and, while it has no Republican co-sponsors, was also unanimously approved by the committee. Gaucher disease is a genetic condition in which a person is missing an enzyme that breaks down lipids – fatty compounds in the body that serve various important functions. This can result in symptoms including a large liver and spleen, low number of red blood cells, easy bruising, bone pain, bone fractures and lung disease. In rare cases, the disease can affect the brain, causing unusual eye movements, swallowing difficulties and seizures.

“Currently, there is no cure for Gaucher disease, which causes fatty substances to accumulate and enlarge the liver and spleen,” Salisbury said when she introduced HB 1652. “People born with the disorder can develop a litany of problems, from organ, blood and bone disorders to gynecological and obstetric problems, to even some cancers. The good news is that timely detection and treatment can alleviate some of the symptoms and help people achieve better outcomes. My bill would ensure that Gaucher testing is included among the diseases for which Pennsylvania newborns are screened. It’s a simple step that can make a huge difference in the life of someone born with this disease.”

The committee also unanimously approved a bill to update state laws to allow schools to use alternative forms of life-saving medication for people with serious allergic reactions. House Bill 1043 would amend the Public School Code to replace references to epinephrine auto-injectors with the term epinephrine delivery system, which would include alternatives like nasal sprays. House Bill 1043, sponsored by Democrat Arvind Venkat, has a mix of Republicans and Democrats among its 27 co-sponsors.