KevinMD March 24, 2025
Rare diseases were not something I studied in any depth in medical school or residency.
It was my aunt, Dr. Vivian Shih, who first raised my awareness of this area of medicine. A nationally renowned researcher studying inborn errors of metabolism, her work reminded me of the biochemical pathways I had studied as an undergraduate. Though I trained at the same medical school where she worked, these conditions were mentioned only in passing in our curriculum, if at all—and more often from a biochemistry perspective, not the constellation of symptoms that marked the clinical presentation.
In fact, during my medical student and residency years, I seldom came across rare diseases, except through readings or conferences. Only once during my neurology...
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