This documentary is about Jeanne Nollman, a healthy, active mother of two, who struggle with a mystery disease that affect her life and identity. Through interviews and dramatic recreations, she discovers the truth about her disease.

People suffering from illnesses un or misdiagnosed, discuss their journey to finding a diagnosis.

Jeanne Nollman fails to hit puberty and is being told that she is just a late bloomer. Her doctor tells her that her ovaries are underdeveloped and can become cancerous. After many tests, Jeanne Nollman finds out she has a rare genetic disorder called Swyer syndrome which gives her XY chromosome. In result, she struggles to produce hormones that are essential for puberty which can affect her future and everyday life.

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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