HARRISBURG – All PA newborns would be tested for Gaucher disease. House Bill 1652 would ensure diagnosis at the earliest possible time when treatment can help alleviate some symptoms of the disease. Currently, there is no cure for Gaucher disease – a genetic condition in which a person is missing an enzyme that breaks down lipids, which causes fatty substances to accumulate and enlarge the liver and spleen. Those 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. Several other states already test for Gaucher disease. The bill is now before the PA House Health Committee.
