Ever since young Averi Williams has been born, her parents have become worried about her. Averi cries constantly for no apparent reason, has unusually bluish sclera, has an enlarged forehead with protruding veins, fails to gain weight, and has breathing problems. These symptoms turn out to be caused by malignant infantile osteopetrosis. Plus, since she was fifteen years old, Lynn Sanders has been experiencing chronic pain in her hands and wrists. The pain spreads to her joints, and it turns out that Lynn has Ehlers-Danlos syndrome.
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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