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 storage disorders and related conditions to the state newborn screening roster. Rep. McKenna, who testified in support, said families endure "the diagnostic odyssey" for years and that state processes and capacity are lagging.

Parents, clinicians and national advocacy groups described both the human consequences and program precedents. Carly Tesiopoulos, mother of a child with pyruvate dehydrogenase complex deficiency (PDCD), explained that early initiation of a ketogenic diet changed her daughter's prognosis: "By adding PDCD to the newborn screen, we can take a significant step towards ensuring every newborn is screened for this condition shortly after birth," she said. National patient groups and state clinicians noted that states including Missouri, Illinois, New Jersey and New York have identified cases through screening pilots and that FDA-approved treatments exist for some disorders (for example, multiple FDA-approved therapies were cited for Gaucher disease and Fabry disease by patient advocates).

Clinicians and researchers stressed cost and public-health benefits. Brian Jones, a nephrologist who treats Fabry disease and who is himself affected by the condition, said Massachusetts already collects heel-prick data that could be "unblinded" and used to notify families and clinicians: "You're already pricking the baby's heel. There's very little cost associated with adding Gaucher disease and the other lysosomal storage disorders," he said. James Romano of the Lysosomal Storage Disorders Advocacy Coalition argued the state had precedent in adding Duchenne muscular dystrophy last year and urged similar legislative action now.

Representatives of the Department of Public Health were described by lawmakers as cautious about legislative mandates because of the departments advisory process and the pace of state pilots. Rep. McKenna noted outreach to DPH and said the newborn screening advisory process was "woefully underserved" and met infrequently, according to her testimony.

What happened next: committee members took testimony but did not record a committee vote during this hearing. Advocates asked for favorable reports on the bills.

Ending: Supporters left the committee with written materials and multi-state pilot data and asked lawmakers to act quickly so families can access early diagnosis and treatment without the prolonged diagnostic delays described in testimony.