In medicine, “rare” is often used to describe conditions that affect relatively few people. But when you work in healthcare long enough—especially at the very beginning of life—you realize rare diseases are not rare at all.

As a neonatologist, I cared for newborns whose symptoms didn’t follow a familiar script. An infant struggling to breathe. A baby who couldn’t feed. A child whose development stalled without a clear explanation. In the NICU, there is no luxury of time. Families are desperate for answers, and clinicians are making high-stakes decisions with incomplete information.

Too often, we treated what we could see while suspecting there was something deeper we could not yet name. We ordered a multitude of tests and brought in specialists to consult, but days often turned into weeks. Sometimes answers came, but often they came too late to change the course of care.

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THE HIGH COST OF UNCERTAINTY

The phrase “diagnostic odyssey” is........

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