Gaucher Disease is a rare genetic disorder that causes the harmful buildup of glycolipids throughout the body. This buildup can result in symptoms including enlarged spleen and liver, anemia, and bone fractures, among others. Gaucher can also increase one’s risk of Parkinson’s Disease, various forms of cancer, and gynecological or obstetric issues. Through a small blood sample, Gaucher Disease can be tested for and detected, and we know that early intervention can help alleviate some of the symptoms of this lifelong disease. 

 

I will be introducing companion legislation to HB 1652, sponsored by Rep. Abigail Salisbury, to require that Pennsylvania’s newborn screening panel includes Gaucher Disease so that all Pennsylvanians can receive an early and accurate diagnosis of the disease, and receive the treatment they need to improve their quality of life as the disease progresses. 

 

Please join me in co-sponsoring this important legislation to ensure that all children in Pennsylvania have accurate diagnoses.