Medicine tells a clean story about diagnosis. A set of symptoms appears. A clinician evaluates them. Tests are ordered. Patterns emerge. A name is assigned. Uncertainty resolves. That version is comforting because it suggests order: cause, method, resolution. It also collapses under sustained complexity. For some patients, that collapse is not theoretical. It is lived
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When diagnosing rare disease falls to the family originally appeared in KevinMD.com.
