October...A Month of MANY Meanings

October, the beginning of Fall, pumpkins, pumpkin spice latte's, Halloween costumes ... and awareness.  What awareness you ask?? Why, Breast Cancer awareness AND Primary Ciliary Dyskinesia awareness!!. The two conditions that have decided to make quite a presence in my life.  It is clear why October has many meanings.

I was officially diagnosed with Primary Ciliary Dyskinesia earlier this year, after a couple years of testing. This came with many emotions as I felt relief in knowing what has caused me problems my entire life, yet fear because I know how serious this disease is and the many challenges I face not only daily but in my future. I've been so fortunate to meet some amazing women, men and children with PCD, along with some amazingly talented and brilliant doctors, husbands, wives and parents of those with PCD.  I've had the support of many friends, family and complete strangers with the two fundraisers I held this year ... which have made it possible for my Chicago doctor to obtain the diagnostic equipment she needs in order to diagnose more unknown cases.  I know that feeling and to be able to give back to the PCD community feels wonderful.  Living your life wondering why you cough all the time, why you can't run like all the other kids, why you have to be stuck in a hospital while your friends are out partying, studying, traveling ... this disease is extremely tragic yes, but it has also connected me to some amazing people who will always hold a special place in my heart.  It has also forced me to become more in-tune with myself ... my abilities and my limitations.  It challenges me every second, of every day ... and I believe I am stronger because of it. In some ways, I am thankful for PCD, in others ... well, not so much.

I also took a drastic step this year in reducing my chances of getting breast cancer, by having an "elective" prophylactic double mastectomy.  Breast cancer affects so many innocent people and their families, friends, coworkers ... I don't know anyone who doesn't know someone who has been diagnosed with breast cancer.   Talking about my choice to do a double mastectomy at 29 years old is bittersweet.  I dislike that I had to make the decision to do such a drastic surgery, but I am so grateful I was able to make that decision.  I know far too many women who did not have a choice like I did, and I feel so incredibly lucky that the choice was mine to make ... not the other way around.

While some may look at October as being just another month heading into winter, I reflect back and it's clear that October holds meanings in my book.  Last Friday also marked the 2 month post surgery date for me.  I am still recovering well.  I am getting used to the let's say "weird" sensations of having my pectoral muscles rearranged, nerves cut and some "plumper" implants put in.  I have a check up here in Houston with the high-risk breast doctor who has been following me for the past few years ... I haven't seen her since the surgery, so it will be interesting to get her thoughts on how things are progressing.  I will also be seeing a massage therapist Thursday.  My right breast tends to get a little swollen at times and these therapists can hopefully work their magic to help eliminate/reduce that. Overall, I am very happy with my results and can't believe it's DONE.

Wishing you all a happy and healthy start to Fall!

Update and Security

This will be a very short post, but I am happy to report that all is going great.  I am now just under 4 weeks post surgery and I feel pretty good.  I will be getting my final stitches out on Thursday and I met with a Physical/Massage therapist yesterday.  She was very helpful, as I have to "work" to keep my new girls looking and feeling like they should.  I am about 40% recovered according to her, however I feel a little more healed than that.  I am still restricted to not lifting, pulling or pushing anything more than 10 pounds so my "pipes" (as Bob calls them) seem awfully weak!

As the body heals, it naturally wants to form scar tissue over the areas that were traumatized.  This is usually a good thing, except for my cosmetic situations like mine.  So ... she gave me lots of tips about how to keep the new girls moving and preventing scar tissue...so they will feel and look normal. I also had to do some arm exercises which I haven't done in about a month.  Since they had to cut the pectoral muscle, stretch it and places an implant underneath it, you can imagine the tightness feeling I might have when raising my arms above my head or stretching my arms behind my back.  It's amazing how much you use those muscles!

Finally, I wanted to let anyone who is reading this that I am changing some security settings with the blog.  I will now require readers to "ask" to read the blog and therefore you will have to log in to see the posts. I enjoy sharing my story with others, in fact complete strangers, but I felt it was time to have a little more control over who is able to access this personal journey.  Please, if you aren't already ask to join this blog, or become a reader.  I think I might have to add you as a reader so I would just need your email address, if I don't have it already.

My email is rebeccahaskin@gmail.com.  If you'd like to continue hearing about this journey please email me and I will sign you up to get post updates!  Thanks and hope everyone is doing and feeling well :)

12 Days of Recovery

On the first day of recovery

my new doctors gave to me:

A chance to live life breast cancer free.

On the second day of recovery

I thought how could this be:

2 new boobs 

and a chance to live life breast cancer free.

On the third day of recovery

it started to become clear to me:

3 hours of surgery

2 new boobs

and a chance to live life breast cancer free.

On the fourth day of recovery

I left hospital grounds and thanked the amazing team

4 unforgettable doctors

3 hours of surgery

2 new boobs 

and a chance to live life breast cancer free.

On the fifth day of recovery

oh, the abundance of generosity

5 bags of popcorn

4 unforgettable doctors

3 hours of surgery

2 new boobs 

and a chance to live life breast cancer free.

On the sixth day of recovery

It was Dr. Fenner I went to see

6 lines down to three

5 bags of popcorn

4 unforgettable doctors

3 hours of surgery

2 new boobs

and a chance to live life breast cancer free.

On the seventh day of recovery

I can't believe a week ago today,

7 days feels so crazy

6 lines down to three

5 bags of popcorn

4 unforgettable doctors

3 hours of surgery

2 new boobs

and a chance to live life breast cancer free.

On the eighth day of recovery

I had a date with my hunny,

8 days going on eighty

7 days feels so crazy

6 lines down to three

5 bags of popcorn

4 unforgettable doctors

3 hours of surgery

2 new boobs

and a chance to live life breast cancer free.

On the ninth day of recovery

I went out for some shopping,

9 new fancy bras

8 days going on eighty

7 days feels so crazy

6 lines down to three

5 bags of popcorn

4 unforgettable doctors

3 hours of surgery

2 new boobs

and a chance to live life breast cancer free.

On the tenth day of recovery

I had a visit from Ralph and "mini"

10 hugs were shared

9 new fancy bras

8 days going on eighty

7 days feels so crazy

6 lines down to three

5 bags of popcorn

4 unforgettable doctors

3 hours of surgery

2 new boobs

and a chance to live life breast cancer free.

On the eleventh day of recovery

it was my hubby's big birthday

11 red velvet cupcakes

10 hugs were shared

9 new fancy bras

8 days going on eighty

7 days feels so crazy

6 lines down to three

5 bags of popcorn

4 unforgettable doctors

3 hours of surgery

2 new boobs

and a chance to live life breast cancer free.

On the twelfth day of recovery

I am just so very happy

12 days to healing

11 red velvet cupcakes

10 hugs were shared

9 new fancy bras

8 days going on eighty

7 days feels so crazy

6 lines down to three

5 bags of popcorn

4 unforgettable doctors

3 hours of surgery

2 new boobs

and a chance to live life breast cancer free.

I can't believe it's been only 12 days after surgery.  More of an "update" to come, but all is well and thank you all for the continued thoughts, prayers, gifts, cards, calls, texts ... it all means so much.

Happy Birthday to my hubby!

"Happy Birthday to my love,

you're always there come push or shove. 

I'll never forget the day we met,

that beautiful day at the Old Town Art Fest.

You've captured my heart in so many ways,

never did I think I'd be so lucky to say.

I have the best husband, partner and friend,

I'll always love you, forever to the end.

The feelings I have for you are so pure,

you are my everything, my everyday cure.

Some days when it's tough and I get down,

I look to you and there is no more reason to frown.

I love your witty sense of humor,

your gentle touch. 

You had me with the simple hand raise,

you made me flush.

Today is your special day and I must say,

Never did I imagine our life this way.

Thank you for all you do,

 I love you, I love you...I love you."

Happy Birthday to the most wonderful husband and friend a gal could ask for.  

6 days of Rockin' and Rollin'

I am happy to be "blogging" just 6 days after surgery!  Thank you to all of you for your sweet comments, cards, calls, texts, emails and gifts.  I have to say the past few months and in particular past 6 days have been unforgettable, scary, uplifting, challenging, rewarding and most of all relieving.

Bob fulfilling my wish to brush my teeth ASAP after surgery :)

Yesterday I received a call from my breast surgeon and she was elated to tell me that the biopsy from the breast tissues sent off, was completely normal!  This wasn't a huge worry of mine at the time, as I was more concerned and a little occupied with just trying to breathe well, manage the pain and enjoy time with my amazing family, but it was always a worry lurking until her call.

The first night and day after surgery were definitely the most challenging.  I experienced quite a bit of discomfort even with a PCA pump, a nerve block and IV pain medications.  After they got the pain under control, things have been on the upswing.  I am now able to take bigger, deeper breaths and cough with some force.  Yes, it's a bit uncomfortable, but nothing I can't handle. I am still restricted to not lifting, pulling or pushing anything more than 5 pounds so needless to say I feel a little helpless.

Upon coming to in the recovery room, I was comfortable and quite honestly "on a happy high" from surgery. Whatever, they gave me to open my lungs and make me comfortable was just the right cocktail.  I couldn't wait to see everyone and when they asked if I wanted them to bring Bob back, I just about screamed "YES"!  After shedding a few relieving tears, just holding each other was about the best thing of this entire experience. Waking up knowing that all those potential cancer ridden cells were now removed, and knowing I did this at the right time, for the right reason, with the right people and that I was going to be okay ... just made me smile.

I saw the anesthesiologist today and they removed my "ON-Q Pain pump" which delivered a localized and steady dose of anesthetizing medication to my chest area.  It felt good to get two more "lines" removed ... at one point I had about 13 lines coming from my body, I am now down to three!  I will continue with IV antibiotics for a few more days, and we see the plastic surgeon on Saturday.  I am hopeful that the drains will be removed Saturday and I will be back to feeling almost normal.  I of course will be taking it very easy the next few weeks.

This has been such an incredible journey and one that I am so fortunate to have the love and support of so many people.  I couldn't have done this without my ever supportive husband, parents, brother and sister in law, parents in law and all of our friends around the globe who have been praying for us and sending us good vibes.  I am definitely not "out of the woods" yet and still have a ways to go with recovery, but I am so incredibly happy to be present, cancer-free and feeling alive ... and as I (apparently) said in the operating room while under my happy high, "I'm ready to Rock-and-Roll"!!

Oh .... and just because of the nature of the surgery and the circumstance, I must inform you all that the new boobs, are simply fantastic :)

Rebecca's Surgery Update #3 and A Lullaby for My Beloved Rebecca

We're approaching 11 PM and Rebecca is finally allowing herself to rest. 

It has been an incredibly long day and a journey that's been months in the making.  As I sit here watching Rebecca drift off to sleep and reflect upon the steps that have led us up until this point, the only word that comes to mind is surreal. 

One can never prepare for something like this.  I am so proud of Rebecca.  She is the bravest person I know and her strength never ceases to amaze me.  As she fights each day with everything she's got, she never stops trying to put others before herself. 

We can all learn from her......focus on what's important.....don't just rise to meet a challenge, but smash it......handle even the most trying of situations with grace and dignity......treat each moment with those you care about with patience, care and respect......and in true Rebs form, never lose your sense of humility and humor.

As we all allow ourselves some rest, here's a lullaby for my beloved.

Be still my darling, be still.
It’s time to rest your weary mind and battle worn body.
Breathe my darling, breathe.
Corner your fighting spirit and allow it a respite.
Rest my darling, rest.
Quiet your mind and allow it to float freely of worry.
Sleep my darling, sleep.
Sink into a safe haven for I will be by your side.
Dream my darling, dream.
Find solace in the night’s quiet and I shall be there when you wake.
I love you.
Today, tomorrow and all the days to come.

Rebecca's Surgery Update #2 --- SUCCESS!

BREATHE AGAIN........ It is with unbounded happiness to announce that Rebecca's surgery is complete and was successful. We just met with the doctors and they couldn't be more pleased with how the surgery went. Rebecca is awake, breathing on her own and comfortable. Words cannot express the sense of relief we are all experiencing knowing she's doing ok. Rebecca will remain in the OR recovery area for a bit longer and then will be transferred to the ICU where she'll spend the next 24 - 48 hours being monitored. We're only hours away from being able to see her! We hope she'll be doing well enough to be discharged sometime Sunday or Monday so we can begin the steady road to recovery. There aren't enough thank you's for the team of doctors and the care they've provided not only for our Rebecca, but also for the family. UPDATE: I was just now able to visit with Rebecca briefly. She's alert and doing very well. In fact, she's got that sense of humor as the first thing she asked the doctors was "What size are they?". She's also aware enough to state that ".....I can't wait to brush my teeth". As I write this, she's being wheeled to her room at the ICU. More to come.... -- A much more relieved Team Rebs

Rebecca's Surgery Update #1

As many of you already know, today is the big day..... Rebecca was in good spirits this morning and was "ready-to-rock" (which has become the phrase of the day -- more to come on this below). There was a teary-eyed farwell to the our beloved Bella and Tarver, who showered mom with puppy kisses, before bedding down in their kennel. Shortly thereafter, we were off to the hospital. We arrived at the hospital this morning at 6:30 AM to get checked in and meet with the team of doctors for one final pre-op checkup. We are so fortunate to have a dream team of doctors and nurses, each of whom we cannot express enough thanks for the level of care and attentivenss they've provided. With the "all clear" from each doctor, we were ready to move forward with the nerve block. With the surgery only hours away and moments before wheeling Rebecca away, the last bout with the nerves and fear of the unexpected came to the forefront. It was a very tough and heart-wrenching few minutes, which seemed to freeze in-time. Thank you to Dr. McShane for the reassurances and encouraging words....I know just seeing you and hearing your thoughts made a world of difference to Rebecca and helped de-escalate her fears. With a few more hugs and kisses from her family, Rebecca and I were able to steal few final minutes together. We held each other and didn't need many words at this point, just a few final tears and then a promise to each other....."No more tears, it's time to be brave and strong.....and we'd see each other shortly on the other-side". The team then wheeled Rebecca away and we were notified shortly thereafter that the nerve block was succcessfully performed. Rebecca then went to the pre-op waiting area and enroute, Jeretta and I were able to see her one more time in the hallway. Rebecca said she wasn't in any pain and it was clear that the "happy juice" had been administered. I let her know she was looking hot in the hospital get-up and that I'd work on getting her some of those sexy long hospital socks to take home with us. With that, she was rolled away. Rebecca went into surgery a bit early, around 10:45 AM. The nurse called shortly after they started and let us know she was breathing well on her own and that she wasn't feeling any pain. Around noon, Dr. McShane came out to give us a second update. Rebecca was not feeling pain, but was having some sensation. She'd cycle between letting the doctors know she could feel this-or-that and saying "I'm ready to rock!". Clearly, whatever cocktail of meds she was given were doing the job. To ensure Rebecca's comfort and to minimize the time of the surgery, the team decided to go ahead and insert a partial breathing tube as well as put her deeper to sleep, just shy of full anesthesia. At this point, the surgery is going as good as can be expected and we hope to hear more soon. If all goes as planned and according to the current timetable, the surgery will be completed around 1:30 - 2 PM. I will send out another update once we hear that the surgery is completed and let everyone know Rebecca is doing well. Thanks to all for the messages and calls. Thanks to everyone for the positive thoughts, prayers and energy. I will do my very best to make sure to share all of the messages with Rebecca once she's up and aware......but not before we brush her teeth....she made me promise that I'd do that as soon as she's out of surgery and able. I'll be "ready to rock" that new electric toothbrush! -- Team Rebs

Twas the night before ...

"Twas the night before surgery, and all through my mind

Not a bad thought is brewing, not this time.

The doctors are ready to give their excellent care, 

Knowing that I will soon be theirs. 

My family is nestled all snug in their beds,

While visions of Rebs with new "knockers"fill their head.

The morning will come before too long, 

This will all be over soon, and I'll sing a happy song."

Tomorrow is the big day, wish me luck and we'll update as we can with how things progress. Thank you to all for your support!!

10 Days to The Rest of My Life

This is a VERY long overdue post, and I hope to share a little bit about what is about to happen while not overwhelming you with a very long post...so here we go.


On February 29th of this year, I received a startling, yet very honest email from my wonderful lung doctor in Chicago.  We had been having some dialog about my breast cancer genetic testing and results for some time, and I didn't understand why she was so persistent on knowing the results.  Come to find out, those results I found out many years ago that were hidden in the back of my brain, surfaced again in a way I never really thought possible.  You see, my family history of breast cancer is beyond significant, with each generation starting with my great grandmother, having a diagnosis of cancer.  For some reason, I knew in my gut, that I would be BRCA positive.   The BRCA genes have been identified as the "breast cancer genes".  I'll never forget sitting in the oncologist office, hearing the news, "you're BRCA1 positive".  It wouldn't hit me until many years later, on February 29th, that it could really impact my survival, beyond just breast cancer.  (Being positive for this gene increases my risk of getting breast cancer over my lifetime by about 85%).  


So, this email from my doctor came as a shock when she correlated the two major issues I am dealing with; breast cancer and lung transplant.  I will need a lung transplant.  I may develop breast cancer.  But where the connection lies is that if I develop breast cancer before I need the transplant, I would be in a lot of trouble. If I were to be diagnosed with breast cancer pre-transplant, I would have to wait for 5 years after completion of treatment and being cancer free, before even being considered for transplant again. Also, if I were to be going through the transplant evaluation where they do an extensive cancer screening, and something were to come back "abnormal" on my mammogram or breast MRI, the transplant surgeon could refuse to operate based on my genetic predisposition and the abnormal results, therefore making the option of a lung transplant, not an option. 


So, I have two options.  First, I could wait and hope that I do not get any type of abnormal breast imaging readings/cancer up through time for transplant, which we aren't sure when that time will be.  This would consist of screening every 6 months (which I've been doing), with the agonizing anxiety surrounding the fear of what they might find (which I have, every 6 months). Knowing that I will likely need a transplant within 5 years or so, I would risk being a candidate for a lung transplant and therefore risk my life at a time when I will need "life" (a lung transplant) the most. 

Or option two, I could take some rather drastic but proactive step to help eliminate my elevated risk of breast cancer.  This is called a preventative bilateral mastectomy.  And this, is what I will be facing next Friday, August 3rd...in 10 days.  After many months of debating, crying, fearing, challenging and investigating, I have chosen to go through with this life changing operation. In doing this, I will reduce my chances of getting breast cancer by 95%.  I will also eliminate the possibility of having breast cancer ruin my chances of having a second chance at breathing freely.


The surgery does not come without risks of course.  With only 32% lung function, the team of surgeons and anesthesiologists have chosen to operate without me undergoing general anesthesia.  This will help to reduce risk of post-op lung related issues (pneumonia, aspiration, etc).  They will attempt what is called a "paravertebral nerve block" which will eliminate sensation to the chest nerves, and hopefully provide me with significant pain relief post-op.  The hope is to avoid having to intubate me (put me under general anesthesia), but provide pain relief and sedation so that I can withstand the surgery comfortably.  I've made it very clear that I don't want to hear, see or feel a damn thing, and I am very confident in the team we have chosen.  In fact, I couldn't have asked for a better team.  I've chosen to do what is called a "skin sparing, nipple sparing, one-step direct to implant mastectomy with reconstruction".  If all goes well while I am on the operating table, I will go in with boobs and come out with boobs, just a little bigger (wink, wink) and full of silicon rather than potential cancer filled tissue.  I've had quite the experience trying to determine what size and shape I want my new "foobs" to be.  Let me tell you, "testing out implants" with your husband and mom in the room can be quite entertaining ;)  I have some limitations of course and can't be the "Dolly Rebs" with double D's.  I have to trust the plastic surgeon that he will make me look good.  Since I am keeping the "outer layer" and the incision is made in the underneath fold of your breast, I'm hopeful for good cosmetic results. I figure, if I am going through all this, why not make those babies a little bigger if possible!?! 


Bob and I will be traveling to Chicago by car starting this Saturday, July 28th, so we can bring our pups with us.  We will be staying in Chicago for likely a month or so.  We've got an amazing support system and I feel that this is the right decision for me.  I only ask of you to help keep the positive thoughts and prayers coming our way.  My recovery will likely be different and possibly longer than the "average" woman considering my existing condition.  We'll need prayers for a safe operation and an uneventful recovery.  I will likely be in the ICU after surgery so they can keep a close eye on me and I'll remain in the hospital for another few days to ensure my lungs and new boobs are okay. After I am discharged from the hospital, we will be staying in Western Springs, IL until I get the "okay" to make the road trip back to Houston.  


Many of you have asked if there is anything we need. To be honest, all we need at this point is what I mentioned, positive thoughts and prayers.  Not only for me and the operation/recovery, but for Bob, my parents and my brother who will all be by my side next week.  I will make it through this and be stronger for it, but the fear and the emotional/physical toll extends beyond me ... to those who I love and care about so much.  I ask that you pray for them during this time, to help them remain strong. To help them emotionally and physically.  They will be my caregivers and they will need patience and strength. I ask that you pray for the team of doctors who will be a part of all of this.  


Lastly, I encourage you all to follow this blog.  We use this blog as our primary means of communication.  I will surely love to hear from you all via calls, texts and emails, but please be patient as I might not respond in my usual quick way.  Thanks for all of your continued love and support as we embark on this crazy journey life is taking us on.  


With Love,
Bob and Rebecca

I Wont.

"I won't, let you lock me down,

I won't, let you push me 'round.

I won't, let you stop me now,

I won't, cause I came too far."

"I won't let you ruin my day,

I won't let you stop my pain.

I won't, no not today,

I won't cause I came too far"

-Akon.

The past few months have been a roller-coaster of ups and downs.  As I sit here hooked up to the liquid cocktail infusion once again, I can't help but feel defeated.  Like I lost another little battle, and my lungs won.  It's only been about 5 months since my last round of IV's, and in my mind, way to soon to require yet another round of pokes and prods and heavy doses of antibiotics.  Sometimes I catch myself wondering why?  Why me, and why am I having to deal with this? What did I do to deserve this? Why should anyone have to deal with this? Am I not good enough to deserve a healthy, breathe-easy life?

And as just as quick as those thoughts enter my mind, I force myself to snap of it.  The fighter side of me comes out with gloves on, punching back those thoughts, putting them where they belong.  That's not to say that I don't have moments of complete mental breakdowns, that I don't cry, that I don't feel completely terrified...because I do have those moments.  But I also know what it is going to take to face this raging war, I know that the road ahead is going to be extremely rocky and ever changing.  If I am going to have a chance at all, I have to be mentally prepared and emotionally solid.  I won't let this disease bring me down, not today and not tomorrow.  

I heard the above lyrics today as I was sitting at a stoplight, in 80* sunny skies here in Houston.  I had been poked three times this morning to get another IV going and I was running on about 4 hours of sleep (yes, roids are in the picture), but as I heard these lyrics...I couldn't help but smile, take a moment to realize the peacefulness in the moment, and just how fortunate I am.  Despite all these ugly annoyances, I have the most important things in life and I realize that.  It would be easy to focus on the negatives, to succumb to darkness. But life is so much more than that.  It's simple really.  One makes a conscious decision with which how they handle life's challenges.  

Sure, I wish that this weekend when two of my best girlfriends are coming to visit, I wasn't stuck (literally) with an IV in my arm and a schedule of antibiotics to adhere to.  I also wish I didn't look like I have been shooting up with bruises all over my arms, but that is besides the point ;)  Instead, I can't wait to see some familiar faces, spend time with my husband and dear friends.  I cant wait to share some much needed laughs and even go "rodeo-ing".  Even more so, I am so incredibly thankful that I have friends who truly care, friends who don't judge or shy away because of what I am dealing with.  Instead, they are there and willing to make a trip to just to hang out and have some fun.  As life moves on, so do the people in your life.  In a way growing older acts as a filter, and there are friends that stick and others who slip on through.  Thankfully I have some pretty solid ... and "sticky" friends joining Bob and I this weekend, and I couldn't be happier :)

Two of the best friends a girl could ask for.

Clarity & Peace.

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 :)