“When you hear hoofbeats, don’t expect to see a Zebra”

The above adage is especially useful in primary care as many of the conditions we see are common. But it is not so useful when we consider our role in both diagnosing and supporting patients with rare diseases. We must be ready to think again and look out for the horse with stripes.

After a long diagnostic journey, the relief of diagnosis is often short-lived as patients come up against the frustrations associated with orphan diseases: a lack of information, treatments and variability in the level and coordination of care. For some diseases national or regional-specialised centres are in place and make a huge difference, but this may be at the detriment of local knowledge of the patient and their disease. A GP can help fill this void. Through increasing familiarity of the disease and how it impacts the patient and their family we can help navigate and coordinate local hospital specialties’ and other agencies’ involvement.