Kartageners Syndrome, PCD, Immotile cilia syndrome

[wrin]

I'm mildly amused because I just saw a stack of paper on Kartagener's syndrome stapled to the bulletin board in the respiratory therapists' lounge.

Maybe I'll steal it and have a read.

[butterflytrans]

Originally Posted by lynnie25

Hi,

My name is Lynn. I'm 34 with Kartagener's syndrome(KS). KS is a subset of PCD(primary ciliary dyskinesia). PCD is an inherited cilia disorder. My cilia do not work properly to clear secretions causing chronic lung, ear & sinus infections. When you have PCD with reversed organs it's called KS. I have Dextrocardia with complete situs inversus.

I have mild bronchiectasis in both lungs. I had the left middle lobe removed at age 9 after a lung collapse. I'm getting ready for sinus surgery. My sinuses are pretty bad and painful.

I take Advair. I use the vest for chest pt(airway clearance)

Just wanted to introduce myself, say hello and find out if anyone else here has KS, PCD or immotile cilia?
Take Care
Lynn

I am shocked! I did a report on Kartagener's syndrome, just 'cause I thought it was cool (especially the dextrocardia part) but I didn't think it was common enough to have more than one person with it on this board!!! Welcome!! I'm sorry that you have to go through all the pain that's associated with your condition. If I may ask, how was it first discovered in you?

[lynnie25]

Originally Posted by butterflytrans

I am shocked! I did a report on Kartagener's syndrome, just 'cause I thought it was cool (especially the dextrocardia part) but I didn't think it was common enough to have more than one person with it on this board!!! Welcome!! I'm sorry that you have to go through all the pain that's associated with your condition. If I may ask, how was it first discovered in you?

Hi Butterfly!!

How cool that you wrote a paper on us backwards, cilia defective folks At birth my situs inversus was discovered. You would think that once the rest of the symptoms began it would have been easy to diagnose. The reversed organs combined with respitory, sinus etc is pretty much a dead give away. Unfortunately for me my peds doc also had situs inversus but not the cilia disorder so he never put 2 and 2 together. I had several bouts of bronchitus, pneumonia, ear infections, sinus infections. I had tubes in the ears. At the age 9 or 10 my left lung collapsed, more than likely due to localized bronchiectasis. I had a bronch done. Then they removed the left middle lobe. Diagnosis came after the surgery.

I had my diagnosis reconfirmed at UNC Chapel Hill last year. They are the main researchers in the US. They do nasal scrapes and make a diagnosis with electron microscopy looking at cilia cross sections. From that I was able to find out my cilia defect which is- outer dynein arms are missing and or stubby.

It's funny that when I was diagnosed my docs said how rare it is and you are the only one...blah blah blah. It was kinda scary at times. Now I'm in touch with over 100 families and we all thought the same thing. Thankfully we are all starting to find each other. A friend of mine started a foundation and we had a family education weekend last summer. It was so incredible to meet others going through the same issues.

Anyway I'm sure I over answered your question You'd never know I have respitory issues by how much I can babble..LOL

Many smiles
Lynn

PS..I would love to read your paper.

[jerrie97]

Hi, this is Rachel again. I'm probably under a different name because I was banned or something on my other one. Maybe it's the same name though. Haha.

I haven't gotten the PCD biopsy results back yet. The dr. said they take a long while to come back. I have had some sinus problems: chronic maxillary and ethmoid sinusitis. I'm seeing an ENT for that. I have been tested for CF twice, one came back at 28 and the other at 11. (must be those potato chips )Not a whole lot of ear problems though. Just a rare case of swimmer's ear...but I swim 5 days a week, so I guess that'll do it.

I've had asthma since I was about 8 years old, and I've been taking Advair 250 and a bunch of other things.

Right now, I'm STILL culturing the same old stuff. I had a fever two nights ago at about 102 and I'm taking Augmentin yet again. That's after stopping Ceftin and Rifampin for 6 days. (by the way, the Rifampin was to try and stop the growth of the bacteria, not for TB!!) I might also have some antibiotic resistance.

I've also been tested for GERD with a 24 hr. pH probe, which showed significant reflux. I go for some esophogram test or something soon to check for some anomaly.

One thing that I really don't like, is guaifenasin (sp?) Argh, I don't even want to mention that stuff.

My dr. recommended chest pt a few times a day, and that seems to help. Do you use the Vest? Is it real expensive? I'd like to get something like that so my mom doesn't have to pound on my back.

I'll let you know when the results come back. Meanwhile, take care!

[wrin]

I understand that for some people the Flutter works well and is far less expensive than the vest.