Families, clinicians urge state to expand newborn screening for lysosomal and metabolic disorders

Parents, clinicians and rare‑disease advocates told the Joint Committee on Public Health that Massachusetts should expand its newborn screening panel to include additional lysosomal and metabolic disorders so infants can be diagnosed and treated earlier. Testimony focused on diseases such as Gaucher disease, Fabry disease, Pompe disease, Niemann‑Pick and pyruvate dehydrogenase complex deficiency (PDCD). "A simple blood test changed my life," said Sophie Thresher, a high‑school senior who described years of misdiagnosis before being diagnosed with Gaucher disease. Her mother, Jill Thresher,…