results?

for insurance reasons, 

we couldn’t get the genetic blood test without going through the torture process of the two sweat tests.

and once we finally had the blood work drawn, it took an additional 4 weeks for the results to process. 

when we received the call from Dr. M, i kind of had a feeling it wasn’t great news. 


of course, right away, we schedule our appointment, to come in and discuss results, for the very next day. 

heading into the pediatric pulmonologist’s office that early friday morning the end of july, C and i were actually okay.


Dr. M had many papers for us, and diagrams drawn with the genetic square — goodness how i wished i paid more attention in high school biology! 

D508, 

50% if the…25% for the…

5T

atypical cystic fibrosis


“phenotype”


what in the world does this all mean?!?



our takeaway was, simply, she has these CF genes, but she’s thriving and she needs no interventions at this time and could possibly never need interventions. 



this was very good news to hear. 




C and i left the office feeling pretty well about things. some of that heaviness and that tension was released from our chests. 

i even left the appointment and immediately did a skincare/makeup party. (yeah i do that, too : ) 




there was only a small nag in the back of my head. 





…just a small one.

uncertainties

the days of being sad about this CF thing are starting to accumulate…


looking back, the summer was spent as a waiting game, filled with uncertainty. it weighed on our minds, but thankfully, it didn’t impair our day to day activities. 


i was still scared. 


with c putting in lots of hours at work, he escapes his thoughts and worries. (not saying that is better)


me?


i am pretty much with her every day. 

looking at her. 

wondering where i went wrong. 

what did i do wrong? 

i swear i only had a little bit of caffeine and it was in the second trimester. 

i followed most of the rules, i promise! 

…ok, i did eat some cookie batter and enjoyed the tiniest sip of wine here and there.


it was torture. (and that all ^^^has nothing to do with genetics)



sometime in june, we had a second sweat test on baby girl, where she was more aware and pretty much cried the whole time.


the chloride numbers were the same as the first sweat test. 


nothing was definitive.  


frustration abound.


each time we had a test done, whether it was a fecal elastase, throat culture or sweat, we were right back in the pulmonologist’s office discussing the results.
since we had two sweat tests with inconclusive results, the next step was the genetic blood test.

if i thought the sweat tests were hard, having blood work done on a 3 month old was the winner. 

sweet baby girl screamed and cried all the while looking right into my eyes as i was holding her. 

it was absolutely heartbreaking. 

i just kept singing and smiling at her through my own tears, reassuring her it was all ok. 



now, i know, it could be so much worse. 

i know it could be cancer. 

or major surgeries.

or… 


know


and that’s where i am grateful


it’s going to be okay.

we just don’t know

after the sweat test, i thought waiting for the results would be torturous.


the very next morning, the pediatrician is back on the phone;

“yes, the results are back from the sweat test. we have an appointment for you with the pediatric pulmonologist at the hospital at 3pm…”


okay. this seems serious. (like it hasn’t already) if it was good news, why couldn’t they just say the results over the phone?


my husband and i head over to meet with the pediatric pulmonogy dr. at 3 pm — because that’s what you do when you’re told your newborn baby’s test results are available regardless of previous plans.


we meet dr. m, who, is amazing. i just love him. if i have to see a dr. for my sweet baby girl’s health regarding a chronic life threatening disease, he’s the one that i would want it to be.

he’s the type of person you just want to hug at the end of the day.


he sits down with us, face to face, and asks us what we know. (how did he know i totally googled cf?!) *which he did say the only place to be referencing CF is the actual CFF.ORG website


he spent close to two hours with us.


at this point in time, we don’t have a diagnosis…the sweat test results are inconclusive.

< 20 you do not have CF.

> 60 you do have CF.


baby girl is at 38 which requires further testing.


another sweat test gets scheduled in a few weeks; hoping for more definitive results.


the uncertainty continues…

hurdles

back in april, when baby m was first born, i thought my biggest hurdles were going to be, in no particular order:

•getting out of the house on time…oh wait, that’s always been my problem.

•managing things by myself while my husband works 60+hrs/wk

•keeping my weight down (total self centered one there)

•maintaining cleanliness and order in the house (haha!)

•and dealing with my 3 year old son and his emotions while he handles the changes that a new baby in the house will bring.


i was not expecting that phone call from the pediatrician at 6 pm on a wednesday evening. it was a week after baby girl was born and also my husband’s first day back to work after his paternity leave.


the dr. proceeds to talk, “…there was an abnormality on baby m’s newborn screen for Cystic Fibrosis. there is a 95% chance that this is nothing to be too concerned about…the next step is a sweat test.”

huh? cystic fibrosis? like that abc movie from the 80’s: “Alex: The Life of a Child.” there was even a book. for some reason, as a young kid, i was intrigued with this movie.  it was a true story of a little girl who was very sick. throughout the movie, craig t nelson and bonnie bedelia thumped on her chest while they sang “wheels on the bus.” 

alex passes away as a young child and i remember how sad i felt.

all the while the dr is speaking, i am remembering this movie.

somehow, i manage to mumble “okay” and “yes” to the pediatrician while fighting back my tears. 

after we hang up i start to wonder, “what is a sweat test? so do they make me wrap a lot of blankets around her and then test her sweat?”  …not quit, bex. 


first, what IS cystic fibrosis, anyway?”


taken directly from cff.org:


Cystic fibrosis is a life-threatening, genetic disease that causes persistent lung infections and progressively limits the ability to breathe. In people with CF, a defective gene causes a thick, buildup of mucus in the lungs, pancreas and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.


Symptoms of CF

People with CF can have a variety of symptoms, including:

Very salty-tasting skin

Persistent coughing, at times with phlegm

Frequent lung infections including pneumonia or bronchitis

Wheezing or shortness of breath

Poor growth or weight gain in spite of a good appetite

Frequent greasy, bulky stools or difficulty with bowel movements

Male infertility


oh. 


fast forward to tuesday.

baby m is exactly 14 days old which is the youngest this test can be performed since newborns don’t sweat yet like the rest of us.

8 am and my mother in law and i arrive at the hospital, which is a cf testing site.

onto her arm, the nurse applies a solution: a highly diluted liquid of sulfuric acid. 

oh, yes. you read that correctly. 

sulfuric acid. 

then an electromagnetic probe is wrapped around baby girl’s arm. a timer is set for five minutes while it basically irritates her skin. the probe is removed and then the nurse applies a piece of sterile gauze and wraps her arm very tightly. 

repeat for the left arm. 

from here we are ushered into a warm room for 30 minutes where they turn the heat up to ensure baby girl will indeed, sweat. 


all i can say is that it was pretty stinkin’ hard to helplessly watch my newborn baby girl go through this process. 


seriously, weren’t my biggest worries supposed to be peanut butter smeared everywhere and dust bunnies??? 

definitions and such…

awhile back, a friend of mine used the word “jaunty” to describe one of my photos that I had posted on the good ol’ fb. i had to look up the definition to make sure i was correct in assuming it meant, confident.

 

jaun·ty

ˈjôntē/

adjective

adjective: jaunty; comparative adjective: jauntier; superlative adjective: jauntiest

i had to chuckle. on the outside, i’d say that was me, but the inside? i used to be the girl who was the precise opposite of this lovely word. heck, i still am.

when my husband and i were first dating, he used to tell me all the time, 

“fake it until you make it, rockstar.”

to his credit, he still does say this to me, but each time with a growing sense of annoyance…it has been more than 9 years.  : ) 

i must be doing a semi-good job of it, though.


i am not exactly sure what this blog will accomplish, and i’m pretty sure i won’t have that many followers, but those that are here, welcome, and thank you. 


i am a wife, 

a mother to a pre-schooler (Lord help me) as well as a 4 month old. 

i am also a model. 

super part time.

in between trying to balance life, family, household, eating, babysitting, castings, walking in heels and not having the power turned off, (yeah, that happened,) we now have a new challenge to add: hospitals and dealing with this very new and overwhelming diagnosis of cystic fibrosis for our sweet baby girl.

i figure in my spare time, instead of sleeping, i will create and nurture a blog.

my therapy of sorts.

i’m hoping to find humor in the tragedies…which, lets face it, most of these so called tragedies aren’t tragic, but are first world problems… yet, this diagnosis of CF, as of late, is pretty awful in our world.

(and for those that are dealing with the aftermath of a tragedy, keep moving. i salute you and the fact that you opened your eyes today. seriously.)

bottom line, it’s all about perspective. and boy, do i hope to find some…