The New York Times did a story on Katie and Allie and their disease. Dr Lisa Sanders does a diagnosis column where she gives the symptoms, and asks you to be the doctor and guess the diagnosis
Would you have guessed from the symptoms and doctor's reports? It took us over 8 years to find a diagnosis. Many neurologists and a trip to the Mayo Clinic. Still didn't have the answer until we did genome sequencing. Here is the Times Part II of the symptoms solved.
My daughters and their drive to find a cure is an inspiration to us all. They are determined to find a cure, even if not for themselves, but for those who follow.
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