TX AS IF...

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valigirl21

Guest
I was noticing in one of the threads how some poster(s) got short w/ another poster who was not genetically dx w/ CF. My son falls into that catagory. Does that bother anyone else that he is seen as "less than" b/c the gnetics don't back up his body? B/c he's an "as if?" I know most don't feel this way as I chat with you often, and my chat friends know about my son, but to the few who's view is skewed this way it just makes me sad.
 
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valigirl21

Guest
I was noticing in one of the threads how some poster(s) got short w/ another poster who was not genetically dx w/ CF. My son falls into that catagory. Does that bother anyone else that he is seen as "less than" b/c the gnetics don't back up his body? B/c he's an "as if?" I know most don't feel this way as I chat with you often, and my chat friends know about my son, but to the few who's view is skewed this way it just makes me sad.
 
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valigirl21

Guest
I was noticing in one of the threads how some poster(s) got short w/ another poster who was not genetically dx w/ CF. My son falls into that catagory. Does that bother anyone else that he is seen as "less than" b/c the gnetics don't back up his body? B/c he's an "as if?" I know most don't feel this way as I chat with you often, and my chat friends know about my son, but to the few who's view is skewed this way it just makes me sad.
 
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valigirl21

Guest
I was noticing in one of the threads how some poster(s) got short w/ another poster who was not genetically dx w/ CF. My son falls into that catagory. Does that bother anyone else that he is seen as "less than" b/c the gnetics don't back up his body? B/c he's an "as if?" I know most don't feel this way as I chat with you often, and my chat friends know about my son, but to the few who's view is skewed this way it just makes me sad.
 
V

valigirl21

Guest
I was noticing in one of the threads how some poster(s) got short w/ another poster who was not genetically dx w/ CF. My son falls into that catagory. Does that bother anyone else that he is seen as "less than" b/c the gnetics don't back up his body? B/c he's an "as if?" I know most don't feel this way as I chat with you often, and my chat friends know about my son, but to the few who's view is skewed this way it just makes me sad.
 

grassisgreener

New member
It doesn't bother me at all but I am really curious about it, especially when symptoms show up at a young age but there is no genetic diagnosis. Has your son had a full panel test (Ambry or Qwest) and still no mutations were found? Was his sweat test positive? Only asking bc I am curious, I imagine you have already shared this here but I just can't remember. My daughter had one "unknown mutation" but we eventually found it with testing through Qwest. Her sweat tests was in the 100's so we weren't questioning her diagnosis, just wanted to find the mutation bc I was pregnant and wanted to find out whether baby #2 had CF.

I can't imagine anyone would see your son as "less than" bc mutations haven't been found.

I know a boy who was diagnosed with CF via sweat test (just barely, his numbers were low) and responded well to enzymes but never showed any other symptoms. A few years later, he switched CF doctors and his new doctor wanted to do a dna test (dna testing was fairly new then and this doctor liked having all patients do it) so this boy shows no mutations and they say "he doesn't really have CF, must have been misdiagnosed". He stopped going to CF clinic, stopped enzymes, etc. That was years ago and this boy has been really healthy, still growing well, etc. No real point to me telling this, I just find it very interesting.
 

grassisgreener

New member
It doesn't bother me at all but I am really curious about it, especially when symptoms show up at a young age but there is no genetic diagnosis. Has your son had a full panel test (Ambry or Qwest) and still no mutations were found? Was his sweat test positive? Only asking bc I am curious, I imagine you have already shared this here but I just can't remember. My daughter had one "unknown mutation" but we eventually found it with testing through Qwest. Her sweat tests was in the 100's so we weren't questioning her diagnosis, just wanted to find the mutation bc I was pregnant and wanted to find out whether baby #2 had CF.

I can't imagine anyone would see your son as "less than" bc mutations haven't been found.

I know a boy who was diagnosed with CF via sweat test (just barely, his numbers were low) and responded well to enzymes but never showed any other symptoms. A few years later, he switched CF doctors and his new doctor wanted to do a dna test (dna testing was fairly new then and this doctor liked having all patients do it) so this boy shows no mutations and they say "he doesn't really have CF, must have been misdiagnosed". He stopped going to CF clinic, stopped enzymes, etc. That was years ago and this boy has been really healthy, still growing well, etc. No real point to me telling this, I just find it very interesting.
 

grassisgreener

New member
It doesn't bother me at all but I am really curious about it, especially when symptoms show up at a young age but there is no genetic diagnosis. Has your son had a full panel test (Ambry or Qwest) and still no mutations were found? Was his sweat test positive? Only asking bc I am curious, I imagine you have already shared this here but I just can't remember. My daughter had one "unknown mutation" but we eventually found it with testing through Qwest. Her sweat tests was in the 100's so we weren't questioning her diagnosis, just wanted to find the mutation bc I was pregnant and wanted to find out whether baby #2 had CF.

I can't imagine anyone would see your son as "less than" bc mutations haven't been found.

I know a boy who was diagnosed with CF via sweat test (just barely, his numbers were low) and responded well to enzymes but never showed any other symptoms. A few years later, he switched CF doctors and his new doctor wanted to do a dna test (dna testing was fairly new then and this doctor liked having all patients do it) so this boy shows no mutations and they say "he doesn't really have CF, must have been misdiagnosed". He stopped going to CF clinic, stopped enzymes, etc. That was years ago and this boy has been really healthy, still growing well, etc. No real point to me telling this, I just find it very interesting.
 

grassisgreener

New member
It doesn't bother me at all but I am really curious about it, especially when symptoms show up at a young age but there is no genetic diagnosis. Has your son had a full panel test (Ambry or Qwest) and still no mutations were found? Was his sweat test positive? Only asking bc I am curious, I imagine you have already shared this here but I just can't remember. My daughter had one "unknown mutation" but we eventually found it with testing through Qwest. Her sweat tests was in the 100's so we weren't questioning her diagnosis, just wanted to find the mutation bc I was pregnant and wanted to find out whether baby #2 had CF.

I can't imagine anyone would see your son as "less than" bc mutations haven't been found.

I know a boy who was diagnosed with CF via sweat test (just barely, his numbers were low) and responded well to enzymes but never showed any other symptoms. A few years later, he switched CF doctors and his new doctor wanted to do a dna test (dna testing was fairly new then and this doctor liked having all patients do it) so this boy shows no mutations and they say "he doesn't really have CF, must have been misdiagnosed". He stopped going to CF clinic, stopped enzymes, etc. That was years ago and this boy has been really healthy, still growing well, etc. No real point to me telling this, I just find it very interesting.
 

grassisgreener

New member
It doesn't bother me at all but I am really curious about it, especially when symptoms show up at a young age but there is no genetic diagnosis. Has your son had a full panel test (Ambry or Qwest) and still no mutations were found? Was his sweat test positive? Only asking bc I am curious, I imagine you have already shared this here but I just can't remember. My daughter had one "unknown mutation" but we eventually found it with testing through Qwest. Her sweat tests was in the 100's so we weren't questioning her diagnosis, just wanted to find the mutation bc I was pregnant and wanted to find out whether baby #2 had CF.
<br />
<br />I can't imagine anyone would see your son as "less than" bc mutations haven't been found.
<br />
<br />I know a boy who was diagnosed with CF via sweat test (just barely, his numbers were low) and responded well to enzymes but never showed any other symptoms. A few years later, he switched CF doctors and his new doctor wanted to do a dna test (dna testing was fairly new then and this doctor liked having all patients do it) so this boy shows no mutations and they say "he doesn't really have CF, must have been misdiagnosed". He stopped going to CF clinic, stopped enzymes, etc. That was years ago and this boy has been really healthy, still growing well, etc. No real point to me telling this, I just find it very interesting.
 

saveferris2009

New member
You may be referring to me. If not, pardon my intrusion.

My skepticism regarding a non-genetic diagnosis comes with the the person's claim of not using any traditional CF treatments. No longer taking enzymes or antibiotics and claiming much better health. and no effort to pursue a genetic diagnosis after a basic panel turning up negative.

That's my skepticism.... it wasn't the fact that there simply wasn't a genetic diagnosis. a bit more to the story.... sorry for the misperception
 

saveferris2009

New member
You may be referring to me. If not, pardon my intrusion.

My skepticism regarding a non-genetic diagnosis comes with the the person's claim of not using any traditional CF treatments. No longer taking enzymes or antibiotics and claiming much better health. and no effort to pursue a genetic diagnosis after a basic panel turning up negative.

That's my skepticism.... it wasn't the fact that there simply wasn't a genetic diagnosis. a bit more to the story.... sorry for the misperception
 

saveferris2009

New member
You may be referring to me. If not, pardon my intrusion.

My skepticism regarding a non-genetic diagnosis comes with the the person's claim of not using any traditional CF treatments. No longer taking enzymes or antibiotics and claiming much better health. and no effort to pursue a genetic diagnosis after a basic panel turning up negative.

That's my skepticism.... it wasn't the fact that there simply wasn't a genetic diagnosis. a bit more to the story.... sorry for the misperception
 

saveferris2009

New member
You may be referring to me. If not, pardon my intrusion.

My skepticism regarding a non-genetic diagnosis comes with the the person's claim of not using any traditional CF treatments. No longer taking enzymes or antibiotics and claiming much better health. and no effort to pursue a genetic diagnosis after a basic panel turning up negative.

That's my skepticism.... it wasn't the fact that there simply wasn't a genetic diagnosis. a bit more to the story.... sorry for the misperception
 

saveferris2009

New member
You may be referring to me. If not, pardon my intrusion.
<br />
<br />My skepticism regarding a non-genetic diagnosis comes with the the person's claim of not using any traditional CF treatments. No longer taking enzymes or antibiotics and claiming much better health. and no effort to pursue a genetic diagnosis after a basic panel turning up negative.
<br />
<br />That's my skepticism.... it wasn't the fact that there simply wasn't a genetic diagnosis. a bit more to the story.... sorry for the misperception
 

just1more

New member
I have no issues with you or your son. Obviously not everyone w/ CF has a confirmed genetic test. That is just the way it is, 20 years ago nobody had one.

The concern in the 'other' thread has more to do with claiming the dx of CF, without the issues. Specifically, if you can live w/o enzymes, abx, hospital stays, nebs, vests, ect and still be healthy then unless you have a genetic test to the contrary it is hard to call this CF.

Regardless of how you get the dx and if you have no mutations, some rare ones or DDF508, someone that doesn't live the life of a CF'r in regards to the needs for care/treatment is in a weak position to advise those that are living it daily.

Just my .02 worth, but no I would never consider your son 'less' just because you don't know his mutations. You are living with CF everyday and that is more than enough for me.
 

just1more

New member
I have no issues with you or your son. Obviously not everyone w/ CF has a confirmed genetic test. That is just the way it is, 20 years ago nobody had one.

The concern in the 'other' thread has more to do with claiming the dx of CF, without the issues. Specifically, if you can live w/o enzymes, abx, hospital stays, nebs, vests, ect and still be healthy then unless you have a genetic test to the contrary it is hard to call this CF.

Regardless of how you get the dx and if you have no mutations, some rare ones or DDF508, someone that doesn't live the life of a CF'r in regards to the needs for care/treatment is in a weak position to advise those that are living it daily.

Just my .02 worth, but no I would never consider your son 'less' just because you don't know his mutations. You are living with CF everyday and that is more than enough for me.
 

just1more

New member
I have no issues with you or your son. Obviously not everyone w/ CF has a confirmed genetic test. That is just the way it is, 20 years ago nobody had one.

The concern in the 'other' thread has more to do with claiming the dx of CF, without the issues. Specifically, if you can live w/o enzymes, abx, hospital stays, nebs, vests, ect and still be healthy then unless you have a genetic test to the contrary it is hard to call this CF.

Regardless of how you get the dx and if you have no mutations, some rare ones or DDF508, someone that doesn't live the life of a CF'r in regards to the needs for care/treatment is in a weak position to advise those that are living it daily.

Just my .02 worth, but no I would never consider your son 'less' just because you don't know his mutations. You are living with CF everyday and that is more than enough for me.
 

just1more

New member
I have no issues with you or your son. Obviously not everyone w/ CF has a confirmed genetic test. That is just the way it is, 20 years ago nobody had one.

The concern in the 'other' thread has more to do with claiming the dx of CF, without the issues. Specifically, if you can live w/o enzymes, abx, hospital stays, nebs, vests, ect and still be healthy then unless you have a genetic test to the contrary it is hard to call this CF.

Regardless of how you get the dx and if you have no mutations, some rare ones or DDF508, someone that doesn't live the life of a CF'r in regards to the needs for care/treatment is in a weak position to advise those that are living it daily.

Just my .02 worth, but no I would never consider your son 'less' just because you don't know his mutations. You are living with CF everyday and that is more than enough for me.
 

just1more

New member
I have no issues with you or your son. Obviously not everyone w/ CF has a confirmed genetic test. That is just the way it is, 20 years ago nobody had one.
<br />
<br />The concern in the 'other' thread has more to do with claiming the dx of CF, without the issues. Specifically, if you can live w/o enzymes, abx, hospital stays, nebs, vests, ect and still be healthy then unless you have a genetic test to the contrary it is hard to call this CF.
<br />
<br />Regardless of how you get the dx and if you have no mutations, some rare ones or DDF508, someone that doesn't live the life of a CF'r in regards to the needs for care/treatment is in a weak position to advise those that are living it daily.
<br />
<br />Just my .02 worth, but no I would never consider your son 'less' just because you don't know his mutations. You are living with CF everyday and that is more than enough for me.
 
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