People living with rare disease often face a diagnostic odyssey, typically waiting years for a diagnosis and receiving multiple misdiagnoses along the way. Qualitative research conducted with members of Raremark’s Fabry disease community highlighted how hard it can be to get an accurate diagnosis when the signs and symptoms of a rare disease resemble those of more common conditions.

Specialty-focused medical educational efforts are under way, promising to raise awareness of rare disease among healthcare professionals. But real progress will also require cultural change on the part of doctors, writes Pete Chan.