Primary Ciliary Dyskinesia (PCD) affects more than 25,000 people in the U.S.
This might not surprise a lot of people but every day is a “bad hair day” for me. Yes, sometimes (okay, maybe often) my locks are frizzled and drab, but I’m actually referring to “hair” that does much more than keep our heads warm.
I have a rare inherited disorder called Primary Ciliary Dyskinesia (PCD). There’s no cure – it’s something I have to live with every day of my life. PCD affects the microscopic, hair-like structures that line some of the tissues inside the body. Nasal passages, sinuses, lungs, ears, reproductive organs and the ventricles of the brain all contain these hair-like structures, called cilia. (Cystic Fibrosis, like PCD, is another example of a devastating genetic disorder that compromises airway clearance.)
People with PCD are sick from birth and experience a greatly diminished quality of life. I was born with a collapsed lung, and at age four had part of that lung removed. The severity of the disease varies from person to person, with some who die from lung damage early in life. Others may live into their fifties or sixties, but the disorder is progressive, and quality of life declines with age, resulting in a lifespan that’s far from “normal.”
Early diagnosis and aggressive prevention of damaging infections are the only option for
managing this disorder. Daily respiratory therapy treatments and medications are par for the course. Sadly, PCD is rare and difficult to diagnose, resulting in delayed access to appropriate care for many patients, who often go untreated until significant lung damage has occurred.
One of the signs of PCD is situs inversus – meaning the internal organs may be flipped around. About half of the people diagnosed with PCD have their heart and other organs on the opposite side of their body. (My heart is in the right place.)
I was diagnosed with PCD when I was 16. That means for 16 years doctors were only treating – not preventing – my frequent lung, sinus and ear infections. Even after diagnosis, because PCD is so rare, doctors were ill-informed on how to care for patients and aggressively prevent damaging infections. I continued to have repeated pneumonia and lung infections well into adulthood, resulting in permanent, irreversible lung damage.
While so much more is known about PCD today there are still thousands of patients who are being misdiagnosed and are not receiving the treatment they need. That’s why I’ve decided to speak out about my experience on #RareDiseaseDay 2016. I’m not asking for pity or any kind of special treatment, just asking if you’ll help me raise awareness about PCD so that others who have it will get the help they need. For more information, go to www.pcdfoundation.org.