Why Now? The Purpose Behind Putting Myself on Here.

This was me a few weeks ago at Vanderbilt in Nashville. I couldn’t sleep and decided to find interesting photos to capture (always trying to be creative). I’m standing on the sky bridge overlooking the various wings of the hospital.

So, I was knee-deep in Kartagener’s Syndrome research, and I stumbled upon this gem: “While there is currently no cure for Kartagener’s Syndrome, ongoing research aims to better understand the condition and develop more effective treatments.”

This is exactly why I am here and putting myself out there. Me and my fellow rare disease warriors need this research like yesterday! I’m talking about new antibiotics and researchers running around—anything to give us some advancement in this progressively worsening disease. Just because my disease is rarer than pigs flying doesn’t mean it deserves less attention and, importantly, the funding.

So, after keeping this whole Kartagener’s gig under wraps for half a century (yep, I’m 57), I figured it was high time to reveal my experiences online. I mean, what’s the point of having a major secret and not spilling the tea now and then?

Here’s the skinny: my lungs are currently giving me more grief than Mr. Squiggles whining for hours during a thunderstorm. There aren’t many antibiotics left to fend off my arch-nemesis, pseudomonas. I now have to go into the hospital to get periodic doses of one of the few antibiotics left and it has to be administered through IV.

And last week, I discovered that my one-month-on, one-month-off treatment of inhaled Tobramycin via nebulizer is showing it may not be working effectively enough. How do I know this? At Vanderbilt, I regularly submit mucous samples to be tested and monitored weekly for several months to see what my lungs are growing and what drugs can attack them.

So, what’s on my agenda tomorrow? I will be taking an hour's drive to cough up another sample at the lab. But it’s no biggie since I will already be close by participating in another round of pulmonary rehab (not the most fun).

I’m very lucky to be a part of this program in Nashville. But it’s also a reminder of what I’m up against and why I’m fighting daily. And it’s frustrating that my rare disease does not get the attention, funding or research like it’s “sister disease”, cystic fibrosis. Or any other ‘popular’ progressive disease, for that matter.

Thankfully, there’s a bright spot in all this chaos—the PCD Foundation. These folks are like the Avengers of genetic research, and I’m proud to have contributed my own genes to the cause. Plus, they’ve made it super easy for new patients in finding a PCD-friendly doctor—I’ve had my fair share of “uh, what’s Kartawhatnow?” moments over the decades. My favorite is, “Oh, I think I heard about that in Med School.”

With all this being said, I felt there was no good source in terms of a patient’s perspective and daily life of living with this rare disease. Since starting this blog just a few weeks ago, I have gotten so many messages from people saying they met me or been here at Eric’s workshops and in my home and had no idea. And they really wouldn’t because I hid it so well. But it’s time to be more transparent. I believe that if I can maybe put a FACE (mine, unfortunately! lol) to this disease, I can get more awareness out there.

Other than doing what I do daily in terms of treatment and literally waiting for more drug research to be done and clinical trials about new drugs that could potentially help me, I don’t think I have anything else left but to write this online journal of sorts. And to share some of my experiences, and many, is embarrassing. Being in your twenties and thirties and trying to date while coughing up mucous and blowing your nose isn’t really a romantic vision at all. But it was my reality and was extremely hard. Picture this: you meet someone you like, and you’re on a date and trying to impress, and suddenly, you're coughing up enough mucus to fill up the wine glass in front of you. I won’t even mention how many times I had to try and blow my nose when he was looking around the room or distracted by the waitress. Romance, am I right?

In closing, my goal is really to put a face to a rare disease and make it aware that funding and research are desperately needed. And time ran out for many people with Kartagener’s. Some of the research I have found has really weighed on me. People in their 30s 40s and 50s that didn’t survive. I don’t want to sit down and accept that my life expectancy is reduced because of the effects of living with this progressive, uncurable disease since birth. I’m willing to do anything to add more to my lifespan. And then there’s a whole other issue: Organ donation. If I get to the point where I will need a lung transplant, how long will I last on the waitlist? So I'm here to make some noise, raise some awareness, share some stories that I hope are more uplifting than sad, and hopefully add a few more years to the expectancy statistics that have already determined for me.