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Advocates press committee to add Gaucher disease to Maryland newborn screening panel
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Summary
Patient advocates and legislators urged a favorable report on SB495 to include Gaucher disease on the newborn screening panel, citing early detection benefits and a modest fiscal note; the Rare Disease Advisory Council urged adherence to the established vetting process and cautioned against legislating individual conditions.
Senate Bill 495 would add Gaucher disease to Maryland's newborn screening panel. Senator Shelley Hettleman told the committee advocates and families had requested the change after the federal RUSP process was dissolved, and she described the bill as a way to ensure newborns with treatable forms of Gaucher disease are identified promptly.
Advocates and patients gave personal testimony about delayed diagnosis and irreversible harms. James Romano of the Gaucher Community Alliance recounted that the diagnostic odyssey for type 1 can take years, while types 2 and 3 progress rapidly and may be fatal before age two without early detection and treatment. Madeline Schloss and Lauren Edwards, both Maryland residents with Gaucher disease, described long diagnostic delays and preventable organ damage.
Advocates noted the fiscal note's modest incremental cost—Abby Snyder cited roughly $3,600 in the first year and $5,000 in later years to add the test statewide—and pointed to other states that screen for Gaucher or related lysosomal storage disorders.
The Rare Disease Advisory Council chair, Dr. Ada Hamish, testified that Maryland has had a longstanding, detailed advisory process to evaluate candidate conditions for newborn screening and warned against legislating individual conditions without going through the advisory council's review. Committee members and the sponsor discussed parallel approaches: pursuing the MDH advisory process while also advancing legislative awareness and a fiat in statute if the advisory process does not act.
Questions focused on process and alignment with the federal RUSP; witnesses said Maryland is now developing an internal process and that Gaucher is among the first conditions under review after the federal advisory body's dissolution. The committee closed the SB495 panel after the sponsor said advocates would appear again to the advisory council and that the legislature might consider reporting or other process clarifications.
