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I've never felt so much love for rain before!

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The journey to a treatment started in 1949, when a British woman named Mary Jones brought her seventeen-month-old daughter, Sheila, to a Birmingham hospital. Sheila couldn’t stand or even sit up. Nor did she take an interest in her surroundings. A doctor at the hospital named Horst Bickel examined Sheila and informed Jones that she had PKU. “Her mother was not at all impressed when I showed her proudly my beautiful paper chromatogram with the very strong phenylalanine (Phe) spot in the urine of her daughter proving the diagnosis,” Bickel later recalled.
Jones wanted to know what Bickel was going to do now that he had discovered Sheila’s disease. There was nothing to do, Bickel explained.”

Jones rejected his answer. She came back the next morning to demand help. When he turned her down, she came back every morning with the same demand.

--- Carl Zimmer. “She Has Her Mother's Laugh.”

It's a good example to use for some early detection techniques.