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waiting for results
- Thread starter amyr
- Start date
H
hopesiris
Guest
I'm not sure that is disease causing either, I know of a woman my age with one copy of it combined with the same CF mutations I have- and our cases would be considered the same genetically. Sounds like you'll have more info when Ambry is done.
H
hopesiris
Guest
I'm not sure that is disease causing either, I know of a woman my age with one copy of it combined with the same CF mutations I have- and our cases would be considered the same genetically. Sounds like you'll have more info when Ambry is done.
H
hopesiris
Guest
I'm not sure that is disease causing either, I know of a woman my age with one copy of it combined with the same CF mutations I have- and our cases would be considered the same genetically. Sounds like you'll have more info when Ambry is done.
H
hopesiris
Guest
I'm not sure that is disease causing either, I know of a woman my age with one copy of it combined with the same CF mutations I have- and our cases would be considered the same genetically. Sounds like you'll have more info when Ambry is done.
H
hopesiris
Guest
I'm not sure that is disease causing either, I know of a woman my age with one copy of it combined with the same CF mutations I have- and our cases would be considered the same genetically. Sounds like you'll have more info when Ambry is done.
I figured since I have two threads going I would update here also..The other two came back both identical two copies of M470V on different strands. We are still waiting for my Ambry results. My daughters culture (throat) came back growing strep (not strep B) and the three year old came back normal. We are still waiting for the third one to come back. We are now talking about doing broncs on all three so we can get a more accurate picture and confirm a dx.
They are going to treat all three for atypical cf. All three are currently sick again. My daughter had an endoscopy and has reflux. He found a suspicious coating on her esophagus thought it was candida but negative so he doesn't know what it is. (He isn't concerned) I am!!
I have found several studies saying that M470V can alter CFTR function enough to be disease causing and unfortunately my children having 2 copies fit the mold. All I want is for my kids quality of life to improve.
They are going to treat all three for atypical cf. All three are currently sick again. My daughter had an endoscopy and has reflux. He found a suspicious coating on her esophagus thought it was candida but negative so he doesn't know what it is. (He isn't concerned) I am!!
I have found several studies saying that M470V can alter CFTR function enough to be disease causing and unfortunately my children having 2 copies fit the mold. All I want is for my kids quality of life to improve.
I figured since I have two threads going I would update here also..The other two came back both identical two copies of M470V on different strands. We are still waiting for my Ambry results. My daughters culture (throat) came back growing strep (not strep B) and the three year old came back normal. We are still waiting for the third one to come back. We are now talking about doing broncs on all three so we can get a more accurate picture and confirm a dx.
They are going to treat all three for atypical cf. All three are currently sick again. My daughter had an endoscopy and has reflux. He found a suspicious coating on her esophagus thought it was candida but negative so he doesn't know what it is. (He isn't concerned) I am!!
I have found several studies saying that M470V can alter CFTR function enough to be disease causing and unfortunately my children having 2 copies fit the mold. All I want is for my kids quality of life to improve.
They are going to treat all three for atypical cf. All three are currently sick again. My daughter had an endoscopy and has reflux. He found a suspicious coating on her esophagus thought it was candida but negative so he doesn't know what it is. (He isn't concerned) I am!!
I have found several studies saying that M470V can alter CFTR function enough to be disease causing and unfortunately my children having 2 copies fit the mold. All I want is for my kids quality of life to improve.
I figured since I have two threads going I would update here also..The other two came back both identical two copies of M470V on different strands. We are still waiting for my Ambry results. My daughters culture (throat) came back growing strep (not strep B) and the three year old came back normal. We are still waiting for the third one to come back. We are now talking about doing broncs on all three so we can get a more accurate picture and confirm a dx.
They are going to treat all three for atypical cf. All three are currently sick again. My daughter had an endoscopy and has reflux. He found a suspicious coating on her esophagus thought it was candida but negative so he doesn't know what it is. (He isn't concerned) I am!!
I have found several studies saying that M470V can alter CFTR function enough to be disease causing and unfortunately my children having 2 copies fit the mold. All I want is for my kids quality of life to improve.
They are going to treat all three for atypical cf. All three are currently sick again. My daughter had an endoscopy and has reflux. He found a suspicious coating on her esophagus thought it was candida but negative so he doesn't know what it is. (He isn't concerned) I am!!
I have found several studies saying that M470V can alter CFTR function enough to be disease causing and unfortunately my children having 2 copies fit the mold. All I want is for my kids quality of life to improve.
I figured since I have two threads going I would update here also..The other two came back both identical two copies of M470V on different strands. We are still waiting for my Ambry results. My daughters culture (throat) came back growing strep (not strep B) and the three year old came back normal. We are still waiting for the third one to come back. We are now talking about doing broncs on all three so we can get a more accurate picture and confirm a dx.
They are going to treat all three for atypical cf. All three are currently sick again. My daughter had an endoscopy and has reflux. He found a suspicious coating on her esophagus thought it was candida but negative so he doesn't know what it is. (He isn't concerned) I am!!
I have found several studies saying that M470V can alter CFTR function enough to be disease causing and unfortunately my children having 2 copies fit the mold. All I want is for my kids quality of life to improve.
They are going to treat all three for atypical cf. All three are currently sick again. My daughter had an endoscopy and has reflux. He found a suspicious coating on her esophagus thought it was candida but negative so he doesn't know what it is. (He isn't concerned) I am!!
I have found several studies saying that M470V can alter CFTR function enough to be disease causing and unfortunately my children having 2 copies fit the mold. All I want is for my kids quality of life to improve.
I figured since I have two threads going I would update here also..The other two came back both identical two copies of M470V on different strands. We are still waiting for my Ambry results. My daughters culture (throat) came back growing strep (not strep B) and the three year old came back normal. We are still waiting for the third one to come back. We are now talking about doing broncs on all three so we can get a more accurate picture and confirm a dx.
<br />
<br />They are going to treat all three for atypical cf. All three are currently sick again. My daughter had an endoscopy and has reflux. He found a suspicious coating on her esophagus thought it was candida but negative so he doesn't know what it is. (He isn't concerned) I am!!
<br />
<br />I have found several studies saying that M470V can alter CFTR function enough to be disease causing and unfortunately my children having 2 copies fit the mold. All I want is for my kids quality of life to improve.
<br />
<br />They are going to treat all three for atypical cf. All three are currently sick again. My daughter had an endoscopy and has reflux. He found a suspicious coating on her esophagus thought it was candida but negative so he doesn't know what it is. (He isn't concerned) I am!!
<br />
<br />I have found several studies saying that M470V can alter CFTR function enough to be disease causing and unfortunately my children having 2 copies fit the mold. All I want is for my kids quality of life to improve.