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.

Read the article at NPR →