Your child is sick. You bring her to the hospital or the doctor, and a few tests later you have a diagnosis. Whether it’s a simple condition or a complex, chronic disease, you now know what to expect.
Unless the tests don’t give a straight answer. Maybe they come back with conflicting results. Or some of your child’s symptoms match one condition, the rest another, but don’t strictly match one or the other. What then?
This scenario is more common than you might think. Some 30 million Americans suffer from rare disorders, and many never receive a diagnosis. They live in the gray area of undiagnosed diseases, a broad term that includes patients of all ages with a wide variety of conditions that can’t currently be defined.
And it’s been the story of Reid Michaelson’s* life from day one.
“When he was born, I looked at him and told the nurses, ‘Something’s wrong,'” says his mother Amy*, who’s a nurse practitioner. “He was twitching oddly, and just not normal, but they dismissed it.”
Nine days later they were on their way to Boston Children’s Hospital. …