carrierae21
New member
Okay, first of all I am sooooo sorry that you are going through all of this! I know (first hand) what it feels like!
I found out that I am a CF carrier while I was pregnant and then my husand was tested and found out that he also is a carrier. We weren't interested in an amniocentesis while I was pregnant so we just waited it out. The newborn screening was negative and we all felt a giant weight lifted from our shoulders. When she was about 3 months old she fell into the failure to thrive category. I was strictly breastfeeding and she was a great eater! I was shocked and could not believe that it could be a calorie issue. My pediatrician wanted to switch her to formula only for a few days just to see if it was an issue with her or only calories. She also was diagnosed with a heart murmur at this visit so we had to do a follow-up on that as well to make sure there were underlying heart issues. The murmur was fine, she had an EKG and echo that showed nothing remarkable. she started gaining weight almost instantly with the formula so we assumed it was just a calorie issue. The only thing that was weird was that she was eating a ton, but I dismissed it b/c she was doing so well on the formula.
Fast forward a few months and I asked my pediatrician if we could have a blood test done on my daughter to see if she was a CF carrier (for some reason I needed to know if she was a carrier). So we have a blood test done and it comes back that she has 2 cf genes (which means that she should have CF). We had a sweat test done and it confirmed that she does infact have CF. They did a ton of bloodwork to get a baseline and it showed her to be pancreatic insuffucient, which is why she wasn't gaining weight to begin with. Once we started the enzymes her intake slowed down and her weight gain continued to increase. By the way, my pediatrician said that my breastmilk probably did in fact have more calories b/c of the CF.
She had one cold before she was diagnosed but got over it on her own and it never progressed into anything seriously respiratory. She doesn't have resp issues right now and we do chest PT just as maintenence to get her used to it incase we ever have to do more in the future. We have an inhaler and nebulizer but that's just for if she has a cold that progresses into a cough.
She's in the 75% for weight now and even her CF docs don't recognize her when we go in b/c she looks so healthy.
Here are a few questions you might consider...
How many stools a day does your daughter have?
What is the color? consistency?
Does she eat a lot more then you think she should?
Does she taste salty when you kiss her?
Is she a little paler then you and your husband?
You don't have to answer these questions, they are just things that I have noticed now that I should have noticed then. I'm not trying to throw a diagnosis at you, I just now how it feels to think you are in the clear and then be hit from left field. We were floored when we found out b/c we had so much faith in the newborn screening. After talking to many people about the test, I now know that it is not definative by any means. I have talked to a few of our CF docs and a few neonatologists about the test and I have a better understanding of how they test for CF now, but it's definately not a clear yes or no.
I hope that this helps and please feel free to ask me anything seeing as how we just lived this. My e-mail is carrie.naff@yahoo.com or you can just reply to this. I try to check it daily.
I found out that I am a CF carrier while I was pregnant and then my husand was tested and found out that he also is a carrier. We weren't interested in an amniocentesis while I was pregnant so we just waited it out. The newborn screening was negative and we all felt a giant weight lifted from our shoulders. When she was about 3 months old she fell into the failure to thrive category. I was strictly breastfeeding and she was a great eater! I was shocked and could not believe that it could be a calorie issue. My pediatrician wanted to switch her to formula only for a few days just to see if it was an issue with her or only calories. She also was diagnosed with a heart murmur at this visit so we had to do a follow-up on that as well to make sure there were underlying heart issues. The murmur was fine, she had an EKG and echo that showed nothing remarkable. she started gaining weight almost instantly with the formula so we assumed it was just a calorie issue. The only thing that was weird was that she was eating a ton, but I dismissed it b/c she was doing so well on the formula.
Fast forward a few months and I asked my pediatrician if we could have a blood test done on my daughter to see if she was a CF carrier (for some reason I needed to know if she was a carrier). So we have a blood test done and it comes back that she has 2 cf genes (which means that she should have CF). We had a sweat test done and it confirmed that she does infact have CF. They did a ton of bloodwork to get a baseline and it showed her to be pancreatic insuffucient, which is why she wasn't gaining weight to begin with. Once we started the enzymes her intake slowed down and her weight gain continued to increase. By the way, my pediatrician said that my breastmilk probably did in fact have more calories b/c of the CF.
She had one cold before she was diagnosed but got over it on her own and it never progressed into anything seriously respiratory. She doesn't have resp issues right now and we do chest PT just as maintenence to get her used to it incase we ever have to do more in the future. We have an inhaler and nebulizer but that's just for if she has a cold that progresses into a cough.
She's in the 75% for weight now and even her CF docs don't recognize her when we go in b/c she looks so healthy.
Here are a few questions you might consider...
How many stools a day does your daughter have?
What is the color? consistency?
Does she eat a lot more then you think she should?
Does she taste salty when you kiss her?
Is she a little paler then you and your husband?
You don't have to answer these questions, they are just things that I have noticed now that I should have noticed then. I'm not trying to throw a diagnosis at you, I just now how it feels to think you are in the clear and then be hit from left field. We were floored when we found out b/c we had so much faith in the newborn screening. After talking to many people about the test, I now know that it is not definative by any means. I have talked to a few of our CF docs and a few neonatologists about the test and I have a better understanding of how they test for CF now, but it's definately not a clear yes or no.
I hope that this helps and please feel free to ask me anything seeing as how we just lived this. My e-mail is carrie.naff@yahoo.com or you can just reply to this. I try to check it daily.