Thursday, February 9, 2012

It's in your genes

Yes talking about genes... and not blue jeans like you wear, genes that make up who you are.  I know it is late posting this but I have been thinking and rethinking of how to write this.  I feel like a phony, a fake, a liar... whatever you want to call it.  But it is something personal that we wanted to keep to ourselves until we knew more information.  So I will try to tell the story as coherent as I can since I am a bit exhausted from thinking too much.

Shortly after Olivia was born we got called in to the pediatrician's office before our next scheduled visit.  I knew right then and there something was wrong.  Doctors don't usually call you to come in, it is usually the other way around.  It was about her neonatal screening they did at the hospital- I even remember them doing it- I saw her little splotches of blood on the card.  Come to find out Olivia came back with a genetic marker for Cystic Fibrosis.  She has what is called a Delta F508 genetic mutation.  We did 3 sweat tests at Egleston to determine if she was just a carrier or if indeed she had the disease since neither of us knew of this running in our families.  The first test- she didn't sweat (she was only a week old).  The second test- they got 2 different readings - one from each arm.- one normal the other elevated  The third test finally came back in the normal range so they concluded she was only a carrier of CF.  We visited the CF clinic at Egleston and got lots of information- almost information overload.  So for awhile we really haven't thought about it.  In the back of my mind I wanted to know which one of us was the carrier to figure out all the genetics- I like doing all those Punnett squares.  Olivia has grown into a very healthy baby- there are some really early warning signs of CF which we never saw- salty skin and not passing the meconium (1st baby poop stuff).

So a few weeks ago we decided to go and get the testing done.  I figured, why not get this out of the way and then I can stop thinking about it.  About 2 weeks ago we went to the Emory Genetics lab and met with a counselor and an Obstetrician.  They reiterated all the information about CF that we already knew and the possibilities of how Olivia could have become a CF carrier.  We had the option of taking the CF only test or we could take a test that would also let us know 107 other possible genetic mutations we are carrying.  So we opted for the 2nd test.  So instead of giving blood, my least favorite thing to do anyways, we did a spit test.  We had to spit in a test tube like thing and fill it up about a 1/2 inch.  Seems easy right?  Not so much- the amount of saliva you have in your mouth really isn't a lot at all.  It took me a bit longer than Brendon but we got it done.  We have been playing the waiting game for 2 longs weeks.....

Finally today we got the call and it ends up we (Brendon and I) are both CF carriers.  The odds of that are so slim (1 in 400 carriers marry each other) but 1 out of every 25 or 30 people are CF carriers.  I am still in shock.  I expected it to be one of us, but both of us?  Geez God, I thought you were finished putting us through these trials for awhile.  So there is a lot to think about.  If we tried to have another child there are some different scenarios- 50% they could just be a CF carrier, 25% have CF, and 25% not be a carrier and not have CF.  The genetics counselor also gave us three options when we met with them before knowing the results- do IVF, do an IUI with a donor, or adopt.

Some heavy stuff right? So I guess you see what I have been thinking about.  I do want another child.  I know there are risks but now that we know some of this information I would like to use it for its benefits rather than its negatives.  I know that we are so blessed and thankful that we have Olivia.  I thank my lucky stars every day for her, but the lingering of the future in the back of my mind is there.  I am sure people are thinking, "Gosh, you have been through so much already, how could you think of trying again?" or even the negative thought of , "Gosh, your being so selfish" Its that thinking that keeps me going- I am not selfish by any means, I am a giver and would like to give another chance at becoming pregnant- not right this second though.  I loved being pregnant and love having Olivia, but I am not will to close the doors to my future just because I am a carrier of CF.  I am not a quitter and I can't quit on myself. 

So I am ending this entry with the Bible quote that I remind myself of daily...
"For I know the plans I have for you,” declares the LORD, “plans to prosper you and not to harm you, plans to give you hope and a future"

0 comments:

Post a Comment