Monday, June 4, 2012

Something Unexpected

Every newborn baby in Oklahoma is given a blood test at the hospital after they are born.  The blood test is done to screen for several different diseases that would not otherwise be apparent at birth.  To us it was just another thing we had to do before we left the hospital...no big deal!  But then we got a letter in the mail saying that E's test for Cystic Fibrosis showed that she needed additional testing.  I hadn't received a letter like this for either of the other girls so I was a little concerned.  I asked around and checked the Internet and heard of several cases where someone was told they needed additional testing and things ended up being fine so I was hopeful that this was just a mistake and we would go in and find out that our baby was perfectly healthy.

When we went to her 2 week appointment at the pediatrician's office they said they had received the letter as well and they had already made us an appointment at Children's Hospital to get a sweat test done.  The nurse didn't offer up any additional information about E's screening and the doctor never even came in to see us so we weren't really sure what was going on.  They only do the sweat test on Mondays so we had to wait almost a week to get any answers.  On top of all that, we were going back in for weight checks every few days because E had lost over a pound after she left the hospital and hadn't gained much of it back.

I called and asked to talk to the doctor to see what suggestions he had about getting her weight up and to talk about her screening for CF.  He gave me a few ideas to get her weight up and then I asked if he had seen many patients screen for something like this.  He told me he didn't have any patients that had CF and he had only seen it in his residency.  He said that the sweat test will tell us more but if he was going by her newborn screening alone, he would say she probably has it.  That was hard to hear.  And for some reason I still held onto this tiny chance that maybe he was wrong and we would go on Monday and they would tell us everything was fine.


We went to Children's Hospital to have the sweat test done.  Afterwards they had us go up and meet with the genetic counselor and wait for the results.  The counselor was a very nice woman who talked to us about what CF is and how people get it.  After a few minutes we realized that she was talking to us as if she already knew the results.  When we asked her about that she said that E's newborn screen showed that she has two delta F508 gene mutations and that typically means the person has CF.  The sweat test was just a formality.  She kept talking after that but I don't really think I was listening anymore.  All I could do was stare at my sweet little baby and wonder what life was going to be like with this disease that we knew nothing about just a week before. 

At some point I decided to snap out of it and listen to the counselor again.  She told us that the life expectancy and quality of life for a person with CF today is much better than it was even 10 years ago.  While there's no cure for the disease, they have come a long way as far as treatments go and it really helps that they can catch it so early with the newborn screening.

After that was over and we got back to the car, I was happy to see that Ryan and I were on the same page about everything.  We were heartbroken when we heard the confirmation that she has CF, but now that we know, we're just ready to learn more about it and do what we have to do to keep her healthy.

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