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April 2025

Helpful Hints on Delivering a Rare Disease Diagnosis


A young child using a walker walks down a quiet suburban street on a winter day. The child is wearing a hooded jacket. In the upper right corner is the EURORDIS logo, and at the bottom, the text reads: "EURORDIS Guide: Helpful Hints on Delivering a Rare Disease Diagnosis."

This practical guide, Helpful Hints on Delivering a Rare Disease Diagnosis, is for clinicians and healthcare professionals facing one of the most sensitive moments in the rare disease journey. Drawing on expert insights from a EURORDIS-hosted webinar, this factsheet outlines compassionate, evidence-informed strategies for communicating a diagnosis with empathy, clarity, and care. It acknowledges that while diagnosis may end a long period of uncertainty, it also marks the beginning of a new set of emotional and practical challenges – for both patients and professionals.

Designed to support more positive diagnostic experiences, the factsheet offers best practices for clear communication, tailored information, and ongoing psychosocial support. With practical tips and examples, it helps lay the groundwork for trust and collaboration at a pivotal moment in the care journey for people living with a rare condition.

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