The Journey to Ancient Ithaca Addressing the diagnostic odyssey of rare disease

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Connor Brenna



The “Diagnostic Odyssey” is a common pathway of misdiagnosis and diagnostic delay that many patients with rare diseases find themselves forced to negotiate, just as Homer’s character Odysseus struggled for an entire decade after the Trojan War to return home to Ithaca. Rare diseases are to some extent, by virtue of their rarity, always going to resist diagnosis. Nonetheless, there are several interventions that we can implement in the healthcare system to limit the delays and frustrations that patients with rare disease experience between the onset of their symptoms and the initiation of treatment for a correctly diagnosed condition. These include adaptation of medical education to better-reflect the integration required in modern healthcare, the uptake of new technologies and in-practice resources directed at diagnosing rare disease, and the utilization of patient navigators to accompany patients and advocate for them on their journeys to diagnosis. The “Diagnostic Odyssey” therefore represents an actionable target for all healthcare providers—and students—to work towards eliminating.