Our scare with CF

Let me start off by saying that I love this little girl so so so so much! She is wonderful. I already cannot imagine my life without her.

So when her doctor called last week to say something was wrong with her newborn screening test I freaked out a little. Bryan calmed me down temporarily by saying that they would keep trying to get ahold of me (instead of leaving a message) if it were a big deal... then i talked to the dr...

" You're daughter has tested positive for a cystic fibrosis gene"

WHAT?!?!

My heart stopped and i started to cry. Who wouldn't?? It seemed so impossible with no history of it on either side of our families. But thats the scary part, most CFbabies are born to people with no family history because if you are only a carrier you have no idea.

The more we found out the more i went between being certain she did not have the disease and then being certain she did.

A baby who tests positive here in Indiana has actually had a genetic test done, so that meant we knew she was a carrier, but didnt know whether or not she actually had the disease because she only tested positive for one gene mutation. In order to have the disease a baby needs to have two defective chromosomes. So she could have just one defective chromosome with that one gene mutation on it and not have CF. Or she may have 2 defective chromosomes with the same mutation on each or she could have 2 defective chromosomes and one have a genetic mutation for CF that isnt common and isnt tested for routinely, and have the disease. I hope some of that made some sense.

We were scheduled for a sweat test. That happened today at 10am. In a sweat test a baby's sweat is collected (go figure eh?) Then the concentration of salt is determined. Children (and adults) with CF have an abnormal amount of salt in their sweat. A value of 0-29 is normal range and what we were hoping for as a result. 30-59 is in between, meaing more testing would have to be done, and over 60 is very highly likely CF (though high salt concentrations can be caused by other things too).

I called the doctors office a million times today to see if they had the results yet. And finally at ten after five i got the call. Can i just tell you that i was so scared/nervous/anxious to answer that phone call. The lady on the other end said "hi, this is nurse so-and-so"... i was so relieved. Katies salt value was 21! completely normal and no need for further testing. (i figured that is a nurse called and not the doctor is was a good thing).

This has been the longest week of my life! I would be talking to bryan or Jackson and suddenly be overwhelmed with the thought of our daughter having CF and i would have to stop talking, or whatever i was doing to keep from bawling. What an emotional ride. I cannot express how thankful we are that Katie is only a carrier, and will not show any symptoms of CF. She will only have to think about this when it comes time for her to get married, because if she marries someone else who is a carrier they have a 25% chance of having a baby with CF.

I havent blogged or even written on facebook in a week (yes, that is a long time for me).  I honestly just couldnt think of anything to say other than " what if my baby has cf?" and i didnt want to draw attention to it until we knew the results.

So now that we have dealt with this, i would like to post some pictures from the past couple of weeks.

^^this is my favorite^^