Carson Koult's parents have been worrying about him ever since he was born. He gets spiking fevers and does not respond to pain. He even bites his tongue and tries walking without crying at all. Carson's parents worry that he'd unknowingly get himself hurt, but fortunately, his doctor finds out that Carson has a rare disorder called congenital insensitivity to pain with anhidrosis (CIPA) also known as autonomic neuropathy type IV, in which patients cannot respond to pain or temperature changes. Thirty-two-year-old Martha Emmons has been healthy her whole life until she suddenly goes into a seizure. At first, she isn't worried, but soon, she develops near-fainting episodes that disappear during her pregnancy and return afterwards. Eventually, Martha loses her ability to think straight and actually faints. A doctor finds out that she has swallowing syncope.
Every year, millions of Americans fall prey to real-life medical mysteries ailments that go undiagnosed or misdiagnosed for years. Their lives are thrown into turmoil as medical professionals struggle to understand their baffling conditions. Mystery diagnosis tells their stories. Through interviews and dramatic recreations, each medical mystery is recounted in vivid detail. Symptoms emerge, specialists are called in, but still the daily struggle continues. And then one day, because of a patients relentless pursuit of an accurate diagnosis, or a forward thinking doctor, the problem is solved and a true diagnosis given.
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