I agree with Chaggie, it could be that the other mutation hasn't been identified yet. Over the years, over 1300+ mutations have been discovered, with more being discovered currently. So, if it hasn't been done, I agree that the Ambry full genetics panel should be done to see if you have a rare mutation hiding in your CFTR gene. Jenn <img src="i/expressions/face-icon-small-smile.gif" border="0">
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Newly Diagnosed as an Adult
- Thread starter ngunning
- Start date
I believe it is now over 1500 mutations -- but ditto to everyone else... yes get a full panel now.
My gut feeling is yes, you have CF (whether or not they find your second gene now) but you were misinformed as a child. It's very likely they will find your second gene this time around, but even if they don't one gene plus several CF symptoms and a positive sweat test would easily put you in the CF diagnosis category. Nice going for the current docs who suggested testing again - you will benefit from getting the standard CF treatments when they treat you as a person with CF as apposed to treating your symptoms individually as they come up.
The different version or whatever they said .... probably what they meant was A-Typical or Mild Variant CF. That's what my kids are.... it means you have CF, but your particular gene combination usually means you don't present with all of the typical symptoms or severity of symptoms for many years.
Please read my first entry in my blog (link in my signature line) for more info about my kids and their CF. My daughter was misdiagnosed too.
My gut feeling is yes, you have CF (whether or not they find your second gene now) but you were misinformed as a child. It's very likely they will find your second gene this time around, but even if they don't one gene plus several CF symptoms and a positive sweat test would easily put you in the CF diagnosis category. Nice going for the current docs who suggested testing again - you will benefit from getting the standard CF treatments when they treat you as a person with CF as apposed to treating your symptoms individually as they come up.
The different version or whatever they said .... probably what they meant was A-Typical or Mild Variant CF. That's what my kids are.... it means you have CF, but your particular gene combination usually means you don't present with all of the typical symptoms or severity of symptoms for many years.
Please read my first entry in my blog (link in my signature line) for more info about my kids and their CF. My daughter was misdiagnosed too.
I believe it is now over 1500 mutations -- but ditto to everyone else... yes get a full panel now.
My gut feeling is yes, you have CF (whether or not they find your second gene now) but you were misinformed as a child. It's very likely they will find your second gene this time around, but even if they don't one gene plus several CF symptoms and a positive sweat test would easily put you in the CF diagnosis category. Nice going for the current docs who suggested testing again - you will benefit from getting the standard CF treatments when they treat you as a person with CF as apposed to treating your symptoms individually as they come up.
The different version or whatever they said .... probably what they meant was A-Typical or Mild Variant CF. That's what my kids are.... it means you have CF, but your particular gene combination usually means you don't present with all of the typical symptoms or severity of symptoms for many years.
Please read my first entry in my blog (link in my signature line) for more info about my kids and their CF. My daughter was misdiagnosed too.
My gut feeling is yes, you have CF (whether or not they find your second gene now) but you were misinformed as a child. It's very likely they will find your second gene this time around, but even if they don't one gene plus several CF symptoms and a positive sweat test would easily put you in the CF diagnosis category. Nice going for the current docs who suggested testing again - you will benefit from getting the standard CF treatments when they treat you as a person with CF as apposed to treating your symptoms individually as they come up.
The different version or whatever they said .... probably what they meant was A-Typical or Mild Variant CF. That's what my kids are.... it means you have CF, but your particular gene combination usually means you don't present with all of the typical symptoms or severity of symptoms for many years.
Please read my first entry in my blog (link in my signature line) for more info about my kids and their CF. My daughter was misdiagnosed too.
I believe it is now over 1500 mutations -- but ditto to everyone else... yes get a full panel now.
My gut feeling is yes, you have CF (whether or not they find your second gene now) but you were misinformed as a child. It's very likely they will find your second gene this time around, but even if they don't one gene plus several CF symptoms and a positive sweat test would easily put you in the CF diagnosis category. Nice going for the current docs who suggested testing again - you will benefit from getting the standard CF treatments when they treat you as a person with CF as apposed to treating your symptoms individually as they come up.
The different version or whatever they said .... probably what they meant was A-Typical or Mild Variant CF. That's what my kids are.... it means you have CF, but your particular gene combination usually means you don't present with all of the typical symptoms or severity of symptoms for many years.
Please read my first entry in my blog (link in my signature line) for more info about my kids and their CF. My daughter was misdiagnosed too.
My gut feeling is yes, you have CF (whether or not they find your second gene now) but you were misinformed as a child. It's very likely they will find your second gene this time around, but even if they don't one gene plus several CF symptoms and a positive sweat test would easily put you in the CF diagnosis category. Nice going for the current docs who suggested testing again - you will benefit from getting the standard CF treatments when they treat you as a person with CF as apposed to treating your symptoms individually as they come up.
The different version or whatever they said .... probably what they meant was A-Typical or Mild Variant CF. That's what my kids are.... it means you have CF, but your particular gene combination usually means you don't present with all of the typical symptoms or severity of symptoms for many years.
Please read my first entry in my blog (link in my signature line) for more info about my kids and their CF. My daughter was misdiagnosed too.
I'm still waiting for the full-panel blood results - but you have all been so informative, kind, and helpful. I mean this. When my doctors concluded CF, I felt alone - it's weird - but to know there are other adults out there with CF...well, it's not so lonely!
It's annoying that my pediatricians did not take the sweat test seriously enought, simply because I always "recovered" from infections. But that's in the past!
Thanks again to all.
N. Gunning
It's annoying that my pediatricians did not take the sweat test seriously enought, simply because I always "recovered" from infections. But that's in the past!
Thanks again to all.
N. Gunning
I'm still waiting for the full-panel blood results - but you have all been so informative, kind, and helpful. I mean this. When my doctors concluded CF, I felt alone - it's weird - but to know there are other adults out there with CF...well, it's not so lonely!
It's annoying that my pediatricians did not take the sweat test seriously enought, simply because I always "recovered" from infections. But that's in the past!
Thanks again to all.
N. Gunning
It's annoying that my pediatricians did not take the sweat test seriously enought, simply because I always "recovered" from infections. But that's in the past!
Thanks again to all.
N. Gunning
I'm still waiting for the full-panel blood results - but you have all been so informative, kind, and helpful. I mean this. When my doctors concluded CF, I felt alone - it's weird - but to know there are other adults out there with CF...well, it's not so lonely!
It's annoying that my pediatricians did not take the sweat test seriously enought, simply because I always "recovered" from infections. But that's in the past!
Thanks again to all.
N. Gunning
It's annoying that my pediatricians did not take the sweat test seriously enought, simply because I always "recovered" from infections. But that's in the past!
Thanks again to all.
N. Gunning