With clarity comes a sense of peace.
This past week, my Mom, Bob and I traveled to NIH for our second visit. Our last visit there was one year ago. Back in January of 2011, we were told I had a probable diagnosis of Primary Ciliary Dyskinesia or "PCD" but they could not give me a certain diagnosis because of some inconclusive test results and the DNA test not being run as we thought it would be. Upon our return to NIH this past week, multiple tests were repeated and many new ones performed.
One of the main diagnostic tests is called the Nitrous Oxide test. With a little tube placed in my nose and a "pipe" in my mouth, this incredibly expensive and complicated piece of equipment measures the amount of nitrous oxide a person breathes out while steadily emptying your lungs until there is nothing left. I repeated each "blow-out" 12 times. In PCD the NO levels are extremely low, compared to the "normal value" of about 100. Last year, my levels prompted immediate interest and curiosity at only 15. This year, they were even lower at 10. This is far below normal levels. NO levels can be lower in some other cases, but in PCD it is almost always extremely low.
Another test performed, is called the "nasal scrape" test. It sounds worse than it is, but basically they spray each nostril with saline, then a numbing medication and then take little specimens from the upper part of one's nose to examine under the microscope. They are doing this to evaluate the cilia in my nose. Cilia are microscopic hair like structures which serve as a protective mechanism as well as a "clearance" mechanism. They help trap inhaled particles, dust and mucus and propel them out of the lungs and sinuses. In PCD, these cilia either do not work at all, or do not work like they should. Immediately after collection, they are able to view the cilia "live" under the microscope to see how they (and/or if they) function. Not surprisingly, both last year and this year, my cilia have a mind of their own and are not functioning properly.
I was also enrolled in the proper study this year, and my DNA has been sent of for genetic testing. Finally another sample of my cilia was re-sent to UNC to be evaluated under what is called an "electron microscopy". Here, they evaluate the actual structure of the cilia. They can look at the cross section of each microscopic cilia to determine if there is a structural defect.
So, twenty nine years in the making, and we finally have a diagnosis for what has caused me problems since birth. This is an extremely rare genetic disorder. It is "autosomal recessive" in inheritance which means in order for me to have PCD, both of my parents have to have a copy (or be carriers) of a mutated gene known to cause PCD (which is extremely rare to begin with). The likelihood that they would pass on BOTH copies to a child, is 25% for each pregnancy.
It is estimated that more than 25,000 people have PCD, however less than 400 people actually KNOW that they have it. 400 people, in this big, crazy world. In a weird way, I am so incredibly thankful to finally know the root cause of all my lung/sinus issues. I've been tested for just about everything under the sun to determine why I have developed such severe lung damage (Bronchiectasis), and everything kept coming back normal. It was not until I was about 26 years old that I met an incredible doctor who has been so instrumental in finding clarity, that we even heard about PCD.
To put some icing on the cake, I got more news confirming our recent discovery. My new doctor down here in Houston, suggested I have the genetic test for Cystic Fibrosis repeated, as they had discovered more mutations that had lead to diagnosis, since my last test in 2007. I received the call Friday while in DC, that my genetic test for CF was normal!!! A sense of relief overcame me and I further settled into the mindset that I have unruly cilia and not cystic fibrosis.
Words can not begin to explain the sense of peace I have in knowing what is going on deep inside my body. I am not crazy. I do not have all these signs/symptoms for some unknown reason. Despite the sadness in knowing that there is no cure, that it is extremely rare and that there are no "FDA" approved medications and/or treatments for PCD....I am so thankful to just know. My treatments will not change, but my emotional state of mind has gained clarity that once was a jumbled mess of complicated thoughts and emotions. Our story stays relatively the same, I will still have flare ups and complications and need hospital stays with heavy doses of antibiotics, steroids and a mish-mash of other medications...just to control things. I will continue to have this constant battle every single day, and because of the damage that has already been done, a transplant is something I will likely have to consider. But all this being said, to know WHY all this is happening, provides a level of comfort that once was not there.
In the meantime, I smile with a sense of peace in knowing we gained clarity into what was once such a foggy situation. The clouds have parted some, and the light has shown through. Often times it is only dim, but that dimness is much welcomed after such a long time in the dark. Thank god for the incredible team of doctors and researchers who have lead me to this resolution.
Most of all, I can't thank my parents, my husband and my brother/sister-in-law enough for sticking by my side. For the many trips to the doctor, hospital, emergency rooms. For spending hours on end in waiting rooms, for being that shoulder to cry on and laugh with. For being my rock. I could have never gone through all of this alone and your support means more to me than anything in this world.
Thank you and I love you with all the dysfunctional cilia in my body :)
