A few years ago, Pam and Chris Andrews had a lively 3-year-old girl, another on the way and little knowledge of the intricacies of rare, genetic diseases. All that was about to change.
At first, Pam noticed Belle’s tendency to trip and fall, so she enrolled Belle in occupational therapy. The therapist detected a slight speech problem, so Pam added speech therapy to the schedule. Belle’s preschool suggested she might have hip dysplasia, so Pam consulted a pediatric orthopedist, who ruled out that condition, but recommended a neurologist. The chain of specialists continued: nephrologist, endocrinologist, oncologist.

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