Get Full Government Meeting Transcripts, Videos, & Alerts Forever!
Get email alerts on the Newborn Screening topic
No spam. Unsubscribe anytime.
Families and RDAC members urge Connecticut to add Gaucher disease to newborn screening
Summary
Patient advocates, clinicians and families told the Connecticut Rare Disease Advisory Council that adding Gaucher disease to the state newborn‑screening panel could shorten a typical seven‑year diagnostic odyssey and allow earlier treatment that improves outcomes.
Aviva, a patient with Gaucher disease who advocates for affected families, told the Rare Disease Advisory Council that early detection changes outcomes and urged RDAC support for legislation to add Gaucher to the state newborn‑screening panel. "So why do we need newborn screening for this disease?" she asked, noting that enzyme‑replacement therapy is FDA‑approved from birth and that delays can mean "devastating permanent effects." Aviva said Indiana, Wisconsin and Georgia have voted to add Gaucher in the last year and described a Connecticut plan to identify legislative champions ahead of the next session.
Veronica Hernandez, whose daughter has neuropathic Gaucher disease, described a long diagnostic delay and the consequences of late treatment: "By 9 months old, she was finally given a ... diagnosis of the most severe form of, neuropathic Gaucher disease. ... Every day involves medications, treatments, medical equipment, and constant monitoring." Council members and advocates agreed RDAC could support families by identifying contacts in the Connecticut General Assembly and by elevating newborn‑screening expansion as a priority. The council did not take a formal vote at the meeting; advocates asked RDAC staff and members to help locate potential bill sponsors and to brief relevant health‑committee chairs.
Next steps: advocates said they will begin meeting members of the General Assembly this summer to find a legislative sponsor and asked RDAC to consider formal support when a bill is introduced.
