Laurie Edwards has a chronic respiratory disease so rare that she’s met only one other person who has it — and that was through the Internet. In and out of hospitals her entire life, Edwards, now 32, wasn’t accurately diagnosed until she was 23. Before they correctly identified her condition — primary ciliary dyskinesia (PCD), which is similar in some ways to cystic fibrosis — doctors thought she might be an atypical asthma patient, that she wasn’t taking her medications correctly, or that her symptoms were perhaps brought on by stress.
When the correct diagnosis finally came, the news was life-changing.
“First of all, emotionally, it was a sense of validation,” she tells Fresh Air’s Terry Gross. But more than that, Edwards says that knowing what was wrong allowed her to focus her energies on more effective treatment and prevention.