Rep. Abigail Salisbury October 1, 2024 | 3:12 PM
HARRISBURG, Oct. 1 – State Rep. Abigail Salisbury joined health advocates and lawmakers today at a Capitol news conference to raise awareness that the state provides newborn screening for a wide range of genetic diseases and to urge that Gaucher disease be added to the list of screened diseases.
“It’s important for parents to know that Pennsylvania already performs genetic screening for a wide range of listed genetic diseases right at birth,” Salisbury said. “As of now, Gaucher disease is not on that list, which means that hospitals and parents don’t automatically receive information on whether their newborn has the disease.
“We’re here to raise awareness about that and to ask the state to reconsider adding Gaucher disease to the list so parents can know from the start whether their child needs treatment.”
Also speaking at the event were Aviva Fisher Rosenberg, who is co-founder of the Gaucher Community Alliance; Majority House Health Committee Chairman Rep. Dan Frankel; and Rep. Tarik Khan, who is a member of the House Health Committee and the Pennsylvania Women’s Health Caucus.
Gaucher disease is an inherited disorder that is most common in Jewish people of Eastern and Central European descent. The disease can impair organ function, weaken bones and damage bone marrow, resulting in multiple complications, including blood cancers.
The disease can appear at any age. A rare subtype that begins in infancy typically leads to death by age 2.
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