We got the Ambry results back and no known mutations were found. He has the standard 7T/9T variants (which I think we already knew) and the disclosure that there is a only .1% chance that Owen has CF. So there you have it.
In the meantime, we will keep him on Creon, which is the only medication that has helped with his weight, stools and vomiting/diarrhea. He is still getting g-tubed elemental formula for FTT and we don't plan on stopping that quite yet. We will keep going to the CF clinic for check-ups. He is doing better since we started CPT, so we will keep that up, especially when he gets so phlegmy (I suppose in goose-wrold, it isn't called an exacerbation??). We will neb and use Symbicort regularly to keep his airways open. He will have a CT scan every so often since he has atelectasis and bronchial wall thickening. He will get cultured each appointment since he did culture Staph and needed Bactrim. Our doctor did mention doing a bronchoscopy at some point too. And I guess that is about it.
Of course, I think it is clear that I am relieved in a lot of ways. You all go through so much with CF and it breaks my heart for all of you. Yet, there is not a stronger kinder group of families out there, I applaud you all. Our daily situation/symptom list is still very much the same, regardless of the high negative sweats and gene testing so it's not like we are home-free. I still have very many unanswered questions and have not completely settled on a reaction to the results. But, I wanted to share them with you since you have all been there for me. And I will say it again that I do not want to leave this site because even if we do not have a diagnosis, the experiences you all have mirror ours so clearly and I cannot think of anywhere else I would get such valuable information when it comes to treating the symptoms Owen has. So I thank you in advance for keeping me around <img src="i/expressions/face-icon-small-smile.gif" border="0">
In the meantime, we will keep him on Creon, which is the only medication that has helped with his weight, stools and vomiting/diarrhea. He is still getting g-tubed elemental formula for FTT and we don't plan on stopping that quite yet. We will keep going to the CF clinic for check-ups. He is doing better since we started CPT, so we will keep that up, especially when he gets so phlegmy (I suppose in goose-wrold, it isn't called an exacerbation??). We will neb and use Symbicort regularly to keep his airways open. He will have a CT scan every so often since he has atelectasis and bronchial wall thickening. He will get cultured each appointment since he did culture Staph and needed Bactrim. Our doctor did mention doing a bronchoscopy at some point too. And I guess that is about it.
Of course, I think it is clear that I am relieved in a lot of ways. You all go through so much with CF and it breaks my heart for all of you. Yet, there is not a stronger kinder group of families out there, I applaud you all. Our daily situation/symptom list is still very much the same, regardless of the high negative sweats and gene testing so it's not like we are home-free. I still have very many unanswered questions and have not completely settled on a reaction to the results. But, I wanted to share them with you since you have all been there for me. And I will say it again that I do not want to leave this site because even if we do not have a diagnosis, the experiences you all have mirror ours so clearly and I cannot think of anywhere else I would get such valuable information when it comes to treating the symptoms Owen has. So I thank you in advance for keeping me around <img src="i/expressions/face-icon-small-smile.gif" border="0">