(MedEd)itorial: Living (and Breathing) with Primary Ciliary Dyskinesia — Part 1

  • /Reviewed by: Amy Rontal, MD
  • I was born with a special set of lungs. So special that I often find myself educating my doctors about what I have during my initial consults with new physicians, which inevitably brings the academic sparkle into their eyes. (Go figure it’s also commonly tested on the USMLE Step 1.)

    After years of speculation, a lung biopsy finally provided the missing autosomal recessive piece to my puzzle when I was seven years old.

    They finally had a name for my condition: Immotile Cilia Syndrome (a.k.a. Dyskinetic Cilia Syndrome or Primary Ciliary Dyskinesia).

    Quite uniquely, though, I do not have dextrocardia, situs inversus, or Kartagener’s Syndrome, which commonly go hand in hand with PCD. (Additional high-yield fact: Another common manifestation of PCD is male infertility and female “sub-fertility” and/or high risk for ectopic pregnancies.)

    Even after I was diagnosed however, I still had to be seen at Cystic Fibrosis clinics because what I had was so rare that modified CF treatments were deemed to be the best approach for me. At the time, PCD was said to occur in 1:60,000 people (the current estimate is 1:16,000).

    At a young age, I understood what a CF diagnosis meant for the lives of the other patients around me, but the care I (and I hope the other patients) received in the clinic was top notch. While I don’t have memories of any specific doctor, the one thing I wish I could still do is blow down the three little pigs’ houses as part of my pulmonary function tests. (Why don’t they let adults do that?? Sad face.)

    It wasn’t until I went away to college that I finally met a pulmonologist who had another patient with PCD. I’ll never forget how astounded I was that day at finding one degree of separation from another person like me.

    In that first meeting that changed so much for me, my doctor essentially told me, “You don’t need help breathing. You’ve got 99% normal adult lung capacity. You just need help getting the junk out.”

    Mind. Blown.

    Up until that point, although I was very active, I had been convinced that I couldn’t breathe as well as my peers; that I therefore couldn’t perform as well as they could in PE and sports.

    The bronchodilators I was told to take up until that point made my hands shake, which I hated. I had regularly been proactively on and off antibiotics for as long as I could remember even though I seldom was sick with anything worse than chronic ear infections and had never been hospitalized.

    The only thing holding me back was me and my own self-limiting thoughts.

    That day, he put me on a low-dose corticosteroid inhaler (QVAR/beclomethasone diproprionate HFA) and took me off everything else. Looking back, it’s no surprise that I took up — and fell in love with — running right around this time.

    Now, I know my “specialness” will be with me all my life unless science and medicine somehow figure out a way to undo the genetic programming that affects my cilia the way it does. The point I want to make, though, is that I feel like my doctor healed me profoundly in a very simple encounter, probably with nary an inkling of how much he was about to change my life with one simple statement and the stroke of a pen on an Rx pad.

    And while I used to wish I could be a “normal” kid, I’ve actually come to truly appreciate my special lungs, challenges and all. They (and the care and guidance I’ve received) not only have helped me make healthy life choices; they’re also an instant barometer for my overall health, and for that, I’m deeply grateful.