Rare Diseases Obscured by Shadows of ‘Popular’ Ills: Op-Ed
LiveScience - 04/26/2013
Laurie Edwards, lecturer in health and science writing at Northeastern University and author of In the Kingdom of the Sick: A Social History of Chronic Illness in America, contributed this article to LiveScience’s Expert Voices: Op-Ed & Insights.
After a lifetime of infections, hospitalizations and surgeries, a set of lab results changed everything for me. When I was 23, biopsies of my cilia — the tiny structures that line the respiratory tract — confirmed that I had a genetic respiratory disease called primary ciliary dyskinesia, or PCD. In patients with PCD, the cilia don’t beat properly, so clearing secretions is more difficult and infections and decreased oxygenation are common.
Haven’t heard of PCD? That’s no surprise; even when I’m in the hospital, I sometimes have to both spell and define it for health care professionals who don’t see it often, if ever. About 400 patients have been correctly diagnosed with PCD, though an estimated 25,000 Americans are suspected to have it.