Council members detailed recurring problems when rare-disease patients present to emergency departments and urged development of protocols that preserve individualized emergency plans prepared by specialists.

The nut graf: Members said standard ER protocols or employer-mandated pathways at some hospitals can be harmful to patients with rare metabolic and genetic disorders and recommended a two-track approach: encourage hospitals to embed patient emergency plans in electronic records and work with EMS and smaller hospitals to accept specialized protocols when clinically appropriate.

Pediatric endocrinologist Rebecca "Reba" Wolman described specific clinical risks for glycogen storage disorders in emergency settings and contrasted mainstream hypoglycemia protocols with what some rare-disease patients require: "If I am an emergency room doctor and somebody comes in with hypoglycemia, I'm gonna follow my protocol...Glucagon can be given intranasally, IV...In GSD 1a, giving glucagon causes very severe lactic acidosis," she said, noting continuous IV dextrose may be the appropriate management for those patients.

Other clinicians and RDAC members recommended practical steps including storing emergency letters or problem-list alerts in shared electronic medical records (Epic), creating institution-specific emergency protocols, and adopting state-level guidance so smaller hospitals with outsourced emergency staffing have access to specialty-authored plans. "If they actually pull up this patient's Epic and there is a, something that pops up, that there's a protocol that's clearly typed and written in an Epic...that will help people feel more empowered," said Emily Jermaine Lee.

The council reported that the Office of EMS does not currently treat rare-disease exceptions as separate from standard EMS protocols and that RDAC members will continue discussions with EMS and hospital leadership to clarify exception pathways and technical options for deploying patient-specific guidance.

Ending: RDAC members asked clinicians to develop draft language for a proposed state-level approach and to bring examples of hospital Epic advisories and electronic emergency-plan templates to the next meeting.