MyBabyCeline
Member
Hi all..
I just wanted to update you all on my daughter's case, which I wouldn't have thought of doing if it wasn't for the weird things that are happening to us right now!
Well, first a very short introduction about my daughter: she was born on december 2010 and her NBS results came positive for CF. We then performed two sweat tests (when she was 3 and 4 weeks old) that came back positive (66 & 70) and then we had the genetic tests done and she had 2 mutations 2183aa>g and F693L. She is now 14 months old and by looking at her and seeing her health and growth you would never suspect of anything wrong. Now living in a country where CF is a very rare disease and where there are no CF centers whatsoever, we had to come up with a plan and find out where to head from there. We started seeing a pediatric gastroentorologist and a pediatric pulmonologist who assured us that she is doing really well and that she has no symptoms. Our last visit to her doctors was less than 2 weeks ago and what really started letting me suspect something was not quite right is that both of them were confused when they saw how well she was doing and her gastroenterologist even suggested that we repeat all her tests (sweat test and genetics) in case the initial results were wrong or something!! (I mean is that even possible for a genetic test to come back with a mutaion that is not there?!).
Now the real shock came that same day after the doctor's visit, and to explain that I have to go back a year earlier. When we first received her diagnosis back in january 2011, we were told that there was a masters degree student doing some research about CF and that she was collecting blood samples from willing parents of CF kids to test them for mutations. We gave our samples and completely forgot about that research and continued to live our life with our daughter's diagnosis. Until that evening less than 2 weeks ago, when I received a phone call saying that the results from that study for all our blood samples (my daughter's, mine and her father's) came back negative for any mutaion!!!!!! How can that happen?! How is it that one day she has two mutations and then another day she has none?! something is not right here and I'm driving myself crazy thinking which result is right and which is wrong <img src="i/expressions/face-icon-small-sad.gif" border="0">
We are now re-living all the feelings and emotions that we experienced last year when she was first diagnosed. Sadness, fear and denial. We are going to re-test soon and I know it's going to be a very long time before we get the results back but I am so scared of hoping again and then having that hope shattered if we get a positive result; which logically, and deep down in my head, I'm kind of sure we're going to get <img src="i/expressions/face-icon-small-sad.gif" border="0">
I'm sorry for the rambling but I was wondering if anyone here could relate to this in any possible way. Or if you have any words of wisdom for me in this situation.
I am trying to prepare myself for the worst case scenario here, which is actually where we were 2 weeks ago and we were starting to become perfectly ok with it. But I'm finding myself searching about the mutations that we already know about and all I can think of is that even if the results came back positive, then maybe one of her mutations is a very mild one (I actually found many articles stating that her second mutation F693L is a polymorphism and is non disease causing, but how can someone be confirmed of such info?). I don't know if that's healthy thinking or not, but all I know is that I really need all the optimism and support that I can get until I get a definite answer.
I'm sorry again if this was too long, and I thank you all for being the wonderful and supportive group that you really are.
I just wanted to update you all on my daughter's case, which I wouldn't have thought of doing if it wasn't for the weird things that are happening to us right now!
Well, first a very short introduction about my daughter: she was born on december 2010 and her NBS results came positive for CF. We then performed two sweat tests (when she was 3 and 4 weeks old) that came back positive (66 & 70) and then we had the genetic tests done and she had 2 mutations 2183aa>g and F693L. She is now 14 months old and by looking at her and seeing her health and growth you would never suspect of anything wrong. Now living in a country where CF is a very rare disease and where there are no CF centers whatsoever, we had to come up with a plan and find out where to head from there. We started seeing a pediatric gastroentorologist and a pediatric pulmonologist who assured us that she is doing really well and that she has no symptoms. Our last visit to her doctors was less than 2 weeks ago and what really started letting me suspect something was not quite right is that both of them were confused when they saw how well she was doing and her gastroenterologist even suggested that we repeat all her tests (sweat test and genetics) in case the initial results were wrong or something!! (I mean is that even possible for a genetic test to come back with a mutaion that is not there?!).
Now the real shock came that same day after the doctor's visit, and to explain that I have to go back a year earlier. When we first received her diagnosis back in january 2011, we were told that there was a masters degree student doing some research about CF and that she was collecting blood samples from willing parents of CF kids to test them for mutations. We gave our samples and completely forgot about that research and continued to live our life with our daughter's diagnosis. Until that evening less than 2 weeks ago, when I received a phone call saying that the results from that study for all our blood samples (my daughter's, mine and her father's) came back negative for any mutaion!!!!!! How can that happen?! How is it that one day she has two mutations and then another day she has none?! something is not right here and I'm driving myself crazy thinking which result is right and which is wrong <img src="i/expressions/face-icon-small-sad.gif" border="0">
We are now re-living all the feelings and emotions that we experienced last year when she was first diagnosed. Sadness, fear and denial. We are going to re-test soon and I know it's going to be a very long time before we get the results back but I am so scared of hoping again and then having that hope shattered if we get a positive result; which logically, and deep down in my head, I'm kind of sure we're going to get <img src="i/expressions/face-icon-small-sad.gif" border="0">
I'm sorry for the rambling but I was wondering if anyone here could relate to this in any possible way. Or if you have any words of wisdom for me in this situation.
I am trying to prepare myself for the worst case scenario here, which is actually where we were 2 weeks ago and we were starting to become perfectly ok with it. But I'm finding myself searching about the mutations that we already know about and all I can think of is that even if the results came back positive, then maybe one of her mutations is a very mild one (I actually found many articles stating that her second mutation F693L is a polymorphism and is non disease causing, but how can someone be confirmed of such info?). I don't know if that's healthy thinking or not, but all I know is that I really need all the optimism and support that I can get until I get a definite answer.
I'm sorry again if this was too long, and I thank you all for being the wonderful and supportive group that you really are.