Advisory council urges action on emergency protocols and medication access for rare-disease patients

The Rare Disease Advisory Council pressed state and health-system stakeholders to address gaps in emergency care for people with rare diseases, saying standard symptom-based protocols and limited hospital stocking of medications can harm patients.

Cochair Leslie Bennett said the council will meet tomorrow with the CGA public health committee and members of the hospital association (CHIME) to discuss emergency protocols and medication access. "They're not stocked by hospitals or emergency services," Bennett said, describing patients who keep a month’s supply in a go-bag but encounter emergency clinicians unfamiliar with dosing and specialized care needs.

Why it matters: Council members said symptom-driven triage can trigger standard treatments that are unsafe for certain rare conditions. Bennett cited glycogen storage disease as an example: "if they follow the symptom-based protocols through EMS for addressing low blood sugar, sometimes that can create problems." She also referenced instances in which fluids given to some ataxia patients caused cardiac distress because the patients cannot absorb fluids quickly.

Council members discussed both short-term and longer-term options: creating a work group with CHIME and the hospital association to draft practical changes and considering a visible alert (a colored envelope) to notify first responders of a rare-disease patient’s special needs. Bennett said the idea was suggested by an aide in senator Cohen's office as a complement to existing colored-envelope efforts for autism and other disabilities.

Members noted prior opposition from some hospital stakeholders to legislation on related topics and emphasized the need for collaboration rather than adversarial debate. Colleen Brunetti said personal narratives illustrating emergency-room harms would be shared with the public health committee to underscore the patient-safety rationale.

Next steps: Council leaders said they will raise these clinical examples and the medication-access problem at a scheduled 1:30 p.m. meeting with the public health committee, CHIME and a Department of Public Health representative. No formal votes were taken at the council meeting because a quorum was not present.