After looking at the reports and talking with her, I understand a little bit better. Actually, I should say, I understand what they are saying, but it still doesn't make any sense to me. According to the pathology from her lung brushing, under the gram stain there were "rare epithelial cells present". The surgical report also stated that her bronchial and nasal specimens showed "large clumps of squamous cells, no cilia was successfully recovered". Literally in all the brushing they did, in many different areas, they couldn't come up with a single cilia. Primary Ciliary Dyskinesia (PCD), which is what they were testing for and referring to, refers to cilia that don't function properly or at all. They were attempting to get a good sample of Kate's cilia to check it's functioning and all it's parts. They were definitely not expecting them to be missing.
As best as I can tell with my Google degree, a lack of cilia altogether is called Ciliary Aplasia, which falls under a subset of PCD. PCD is very rare and apparently the subset of Ciliary Aplasia is very, very rare. I have yet to figure out if Ciliary Aplasia, or the lack of any cilia in a brushing, can be caused by illness.
I am starting to think that this is past Dr. Hi's range. He is supposed to be one of the "go to" guys when it comes to CF, but this ciliary stuff is a whole different deal. From my research, the University of North Carolina has a 6 million dollar research grant dedicated to PCD. They are looking to "register" or keep a database of all citizens with PCD. I think I will contact them and see if we can get a little information. Who knows? Maybe she will qualify for some research testing or treatment.
There are many reasons I am interested in getting to the bottom of the genetic possibility. Part of it is personal. I was a child who was always sick. I think I left the hospital after birth on antibiotics and was on them constantly until at least my second birthday. I've always been prone to respiratory bugs and have allergies so bad that I can't even make it through allergy testing without going into anaphylactic shock. As an adult, I've actually been hospitalized for ear infections......twice...and sinus infections once! I mean seriously, who does that? I've had pneumonia at least a dozen times, tonsillitis, bronchitis and more sinus infections than I do years on my life. I've gone through sinus surgery and a tonsillectomy. I am and have been on many of the same medicines that Kate is on. This all leads me to think that there is a real likely chance that it is the genetic form.
What difference does it make? Maybe none. I do personally feel that it would be nice to know for future generations,especially since early diagnosis can make a big difference in prognosis. Plus, I would like to hope that it will save future kiddos from having to be on so many unnecessary medicines and save parents from the constant chase to find a diagnosis. Also since it effects things like fertility, it would be nice for the kids to have a heads up on that. If you haven't figured out that I am the type that WANTS TO KNOW, welcome to your first blog post. You haven't read much. LOL!
Kate has been really snotty and running a fever the last few days, so we slipped into the pediatrician's office (Dr. McP) right at closing tonight. I gave him copies of ALL of her test results from this week so that he could do some research between now and Thursday, when we will see him to make a plan. He was definitely interested in getting the copies so he could read up on it this weekend.
I apologize for my never ending, medical ramblings. I'm starting to get bored with it too. Writing it out helps me understand it better, remember what was said, process it and often brings up other questions I need to ask. It's kind of my public venting.
No comments:
Post a Comment