Symptoms unveiled
Alright, let's dive into the gritty details of the symptoms. It's not the most comfortable topic to lay out, and honestly, it's probably the most exposed I've ever felt, putting it all down in black and white. But hey, my aim is to be as transparent as possible about what it's like living with this condition since day one. Why? So others out there can see there's someone who gets it – especially young folks who can benefit from being better prepared than I was for something that was a mystery for a good chunk of my life.
So, let's first talk about the big one: Kartagener's Syndrome. But before we get into the nitty-gritty, let's start with the "umbrella" term – Primary Ciliary Dyskinesia, or PCD for short. Picture this: in the womb, these little hair-like structures called cilia are supposed to move all your organs into their rightful places during development. But in PCD, these cilia are like a busted compass – they just don't work. As a result, all the organs decide to march to the beat of their own drum, either veering left or right. In my case, it's like my organs decided to take the scenic route in the opposite direction of everyone else's.
This is called situs inversus (all organs reversed) including Dextracardia, which means my heart as well is on the opposite side. So with this reversal, I now have Kartagener’s Syndrome which means I have PCD and full Situs Inversus. PCD is already rare, and 50% of those patients have Kartagener’s. Basically, less than .01%* of the population has what I have.
Continuing, Kartagener’s is known as a TRIAD of diseases, with the third one being Bronchiectasis. This is further confusing because PCD patients also have Brochiectasis. This is a reminder that this disease is still new so it’s always evolving and new terms are applied and/or symptoms get filed under another bracket. But the three I listed are basically Kartagener’s. So let’s unveil the symptoms.
Note: Not everyone will have the same symptoms. Some could have minimal issues, and some could have extreme difficulty.
Primary Ciliary Dyskinesia:
Wet chronic cough that never goes away.
Wet runny nose that never goes away.
Chronic sinusitis (inflammation of the mucous membranes: thick nasal mucus, a plugged nose, and facial pain; fever, headaches, a poor sense of smell, sore throat, phlegm oozing out from the back of the nose to the throat, clearing throat frequently).
Ear infections (so much so, I have constant ringing in my ears—never goes away).
Excess mucus and phlegm in lungs and sinuses (since having sinus surgery, the sinuses have been much better).
Infertility.
Fluid buildup in the brain (listed this because it is part of PCD for some, but I have never had this issue myself, nor has my brother).
Nasal polyps (I don’t believe I have had this but I did have surgery to reroute my passages)
Chronic bronchitis (bunch of symptoms already listed here).
Severe pneumonia (I actually have constant spots of pneumonia in my lungs that I take medication for to keep it from spreading and reduce the number of severe episodes).
Continual upper respiratory infections (this is actually the hardest part because when you are sick every day, it’s hard to know when you have a bad infection happening that is about to knock you off your feet and probably get you hospitalized).
Bronchiectasis (damaged airways):
Cough with lots of mucus and pus (the latter is from severe infections, and I do not have that other than during the time I had lung surgery).
Immune deficiency (I was wearing masks before Covid. I catch everything).
Bad-smelling mucus (I wouldn’t know because I can’t smell! And despite me being worried about it, I’m told I don’t have this).
Shortness of breath (varies throughout the day).
Wheezing (not all the time, but a good amount of time. Definitely at night, which makes it difficult to sleep).
Coughing up blood (this happens to many patients, but I don’t get this).
Clubbing (swollen fingertips with curved nails—I cried when this started happening a couple of years ago, but my doctor said it was minimal and, in his opinion, would not advance much further).
Coughing up Broncholiths, or stones (requires a bout of huge coughs to get up. This started happening about five years ago, I believe. Probably will post about it in the future—I’m quite fascinated by them, actually, lol).
Stretches of time where symptoms flare up (exacerbation), making it all intense:
Extreme tiredness and fatigue, almost lethargic (I literally would be falling over).
Fever, chills.
Severe shortness of breath as if there’s nothing left (but there is).
Night sweats.
Pulmonary Fibrosis (scarring and stiffening/thickening of lung tissue):
Tiredness and overall weakness. Some days it can vary.
Constant shortness of breath and difficulty breathing, depending on how scarred/thick the lung tissue is.
Coughing fits (this can be scary. One time Eric was at the store and didn’t answer phone and I called my cousin Kerryn, frightened. It lasted close to an hour.)
Off-and-on chest pain, out of the blue, and many times throughout the day. Also, bouts of extreme sharp pain that last for days, which is called Pleurisy.
Muscle and joint aches that become very painful, especially in my legs. My mom said that was always a sign I was getting sicker when I complained about my legs hurting.
And as if that wasn't enough, there's a whole slew of other diseases that decide to crash the party, courtesy of the chaos caused by everything listed above. We're talking intense anxiety, depression, early osteoporosis – and to add insult to injury, even COPD decided to join the fray. It's like the universe decided to throw in one more curveball just for good measure. And just to set the record straight, I've never touched a cigarette in my life. But hey, I'll save my rant about that for another day. Trust me, it's a story worth telling.
*Cleveland Clinic 2022 - .01% of the population have Situs Inversus Totalis. But of those in this group, many do not have an underlying condition that is responsible. So the percentage of the population with Kartagener’s Syndrome (KS) is less than .01%. As of January 2024, it is unknown how many people have KS.
Have anything to add here? I welcome feedback from anyone else about any of these symptoms, how you deal with them or anything else. Fill out below to send me a private message.