Advocates push to add rare metabolic and lysosomal disorders to Massachusetts newborn screening panel

Lawmakers and patient advocates told the Joint Committee on Public Health on Sunday that Massachusetts should expand its newborn screening panel to include additional lysosomal storage and metabolic disorders so infants can be diagnosed and treated earlier.

Advocates said the change would identify children with treatable conditions at birth rather than after long, traumatic diagnostic odysseys. "A simple blood test changed my life," Sophie Thresher, a Massachusetts high school student who was diagnosed with Gaucher disease after years of misdiagnosis, told the committee.

The issue matters because early detection can enable interventions that change outcomes. Supporters asked the committee to advance House Bill 2,495 and companion Senate Bill 15-30, which would add multiple lysosomal…