False Positive Asymptomatic

okok

New member
They can do a nasal potential difference test to see how well the CFTR is functioning. Not all locations do this though and it probably wouldn't work out well in a young child so you would have to wait untill your child is older. They would probaly only even consider doing this test if it turned out your child had f508c instead of delf508. The delf508 causes a person to have NO functional CFTR protein whatsoever. This is because the protein is prevented from ever reaching the cell surface where it normally functions due to the fact it is slightly misfolded. In the case of delf508 the protein would actually work fine if it was able to reach the cell's surface.

So the first thing to find out is if it is even possible the lab could have made this mistake. If your testing was preformed by PAGE (polyacrylamide gel electrophoresis) ie the gel test...then you most likely contributed delta f508 (unless you have both delf508 and f508c which has happned before and only discovered due to carrier testing because the person's child had CF but that scenario it is extremely unlikely.) Find out how your husband's test was preformed. If his test was also preformed by PAGE then it is not very likely that your child has f508c instead of delf508 (unless you or your husband carries both mutations which is EXTREMELY unlikely.)

Have you spoken with your doctors about this??? If so what do they say???
It does seem unusual that your daughter's sweat has no salty taste to it. My son (no cf) sometimes even tastes extremely salty to me. Where are you tasting her?? her forehead...? As everyone has said, your daughter most likely has CF but has not yet developed pancreatic insuffiency (she's so young still and it is very common for it to develop over time) or has any lung problems. She should taste salty though at least once in a while. There is nothing wrong though with pushing your doctors to test her for the f508c mutation or to at least find out how testing was preformed.
 

okok

New member
They can do a nasal potential difference test to see how well the CFTR is functioning. Not all locations do this though and it probably wouldn't work out well in a young child so you would have to wait untill your child is older. They would probaly only even consider doing this test if it turned out your child had f508c instead of delf508. The delf508 causes a person to have NO functional CFTR protein whatsoever. This is because the protein is prevented from ever reaching the cell surface where it normally functions due to the fact it is slightly misfolded. In the case of delf508 the protein would actually work fine if it was able to reach the cell's surface.

So the first thing to find out is if it is even possible the lab could have made this mistake. If your testing was preformed by PAGE (polyacrylamide gel electrophoresis) ie the gel test...then you most likely contributed delta f508 (unless you have both delf508 and f508c which has happned before and only discovered due to carrier testing because the person's child had CF but that scenario it is extremely unlikely.) Find out how your husband's test was preformed. If his test was also preformed by PAGE then it is not very likely that your child has f508c instead of delf508 (unless you or your husband carries both mutations which is EXTREMELY unlikely.)

Have you spoken with your doctors about this??? If so what do they say???
It does seem unusual that your daughter's sweat has no salty taste to it. My son (no cf) sometimes even tastes extremely salty to me. Where are you tasting her?? her forehead...? As everyone has said, your daughter most likely has CF but has not yet developed pancreatic insuffiency (she's so young still and it is very common for it to develop over time) or has any lung problems. She should taste salty though at least once in a while. There is nothing wrong though with pushing your doctors to test her for the f508c mutation or to at least find out how testing was preformed.
 

okok

New member
They can do a nasal potential difference test to see how well the CFTR is functioning. Not all locations do this though and it probably wouldn't work out well in a young child so you would have to wait untill your child is older. They would probaly only even consider doing this test if it turned out your child had f508c instead of delf508. The delf508 causes a person to have NO functional CFTR protein whatsoever. This is because the protein is prevented from ever reaching the cell surface where it normally functions due to the fact it is slightly misfolded. In the case of delf508 the protein would actually work fine if it was able to reach the cell's surface.

So the first thing to find out is if it is even possible the lab could have made this mistake. If your testing was preformed by PAGE (polyacrylamide gel electrophoresis) ie the gel test...then you most likely contributed delta f508 (unless you have both delf508 and f508c which has happned before and only discovered due to carrier testing because the person's child had CF but that scenario it is extremely unlikely.) Find out how your husband's test was preformed. If his test was also preformed by PAGE then it is not very likely that your child has f508c instead of delf508 (unless you or your husband carries both mutations which is EXTREMELY unlikely.)

Have you spoken with your doctors about this??? If so what do they say???
It does seem unusual that your daughter's sweat has no salty taste to it. My son (no cf) sometimes even tastes extremely salty to me. Where are you tasting her?? her forehead...? As everyone has said, your daughter most likely has CF but has not yet developed pancreatic insuffiency (she's so young still and it is very common for it to develop over time) or has any lung problems. She should taste salty though at least once in a while. There is nothing wrong though with pushing your doctors to test her for the f508c mutation or to at least find out how testing was preformed.
 

okok

New member
They can do a nasal potential difference test to see how well the CFTR is functioning. Not all locations do this though and it probably wouldn't work out well in a young child so you would have to wait untill your child is older. They would probaly only even consider doing this test if it turned out your child had f508c instead of delf508. The delf508 causes a person to have NO functional CFTR protein whatsoever. This is because the protein is prevented from ever reaching the cell surface where it normally functions due to the fact it is slightly misfolded. In the case of delf508 the protein would actually work fine if it was able to reach the cell's surface.

So the first thing to find out is if it is even possible the lab could have made this mistake. If your testing was preformed by PAGE (polyacrylamide gel electrophoresis) ie the gel test...then you most likely contributed delta f508 (unless you have both delf508 and f508c which has happned before and only discovered due to carrier testing because the person's child had CF but that scenario it is extremely unlikely.) Find out how your husband's test was preformed. If his test was also preformed by PAGE then it is not very likely that your child has f508c instead of delf508 (unless you or your husband carries both mutations which is EXTREMELY unlikely.)

Have you spoken with your doctors about this??? If so what do they say???
It does seem unusual that your daughter's sweat has no salty taste to it. My son (no cf) sometimes even tastes extremely salty to me. Where are you tasting her?? her forehead...? As everyone has said, your daughter most likely has CF but has not yet developed pancreatic insuffiency (she's so young still and it is very common for it to develop over time) or has any lung problems. She should taste salty though at least once in a while. There is nothing wrong though with pushing your doctors to test her for the f508c mutation or to at least find out how testing was preformed.
 

CFHockeyMom

New member
If your daughter's DNA test came back as double DF508 then there is little doubt, she has CF. Don't be mislead by the lack of symptoms. She is only 8 months old. Many children are diagnosed because of chronic illness then once "controlled" appear asymptomatic.
 

CFHockeyMom

New member
If your daughter's DNA test came back as double DF508 then there is little doubt, she has CF. Don't be mislead by the lack of symptoms. She is only 8 months old. Many children are diagnosed because of chronic illness then once "controlled" appear asymptomatic.
 

CFHockeyMom

New member
If your daughter's DNA test came back as double DF508 then there is little doubt, she has CF. Don't be mislead by the lack of symptoms. She is only 8 months old. Many children are diagnosed because of chronic illness then once "controlled" appear asymptomatic.
 

CFHockeyMom

New member
If your daughter's DNA test came back as double DF508 then there is little doubt, she has CF. Don't be mislead by the lack of symptoms. She is only 8 months old. Many children are diagnosed because of chronic illness then once "controlled" appear asymptomatic.
 

CFHockeyMom

New member
If your daughter's DNA test came back as double DF508 then there is little doubt, she has CF. Don't be mislead by the lack of symptoms. She is only 8 months old. Many children are diagnosed because of chronic illness then once "controlled" appear asymptomatic.
 

CFHockeyMom

New member
If your daughter's DNA test came back as double DF508 then there is little doubt, she has CF. Don't be mislead by the lack of symptoms. She is only 8 months old. Many children are diagnosed because of chronic illness then once "controlled" appear asymptomatic.
 

Ratatosk

Administrator
Staff member
DS really didn't taste salty until he was older -- he's also the one who had a normal 32 sweat test, but came back with two copies of delta f508. When he was diagnosed our CF doctor told us that CFers are born with normal lungs, in fact DS, who just turned 4 very, very rarely coughs -- maybe if he swallows wrong or if he's gotten an upper respiratory infection. Wasn't until he started pulmozyme that I actually saw his nose run for the first time ever.

And his poop was never really nasty smelling. Sometimes it was looser and when on formula smelled like feta cheese...
 

Ratatosk

Administrator
Staff member
DS really didn't taste salty until he was older -- he's also the one who had a normal 32 sweat test, but came back with two copies of delta f508. When he was diagnosed our CF doctor told us that CFers are born with normal lungs, in fact DS, who just turned 4 very, very rarely coughs -- maybe if he swallows wrong or if he's gotten an upper respiratory infection. Wasn't until he started pulmozyme that I actually saw his nose run for the first time ever.

And his poop was never really nasty smelling. Sometimes it was looser and when on formula smelled like feta cheese...
 

Ratatosk

Administrator
Staff member
DS really didn't taste salty until he was older -- he's also the one who had a normal 32 sweat test, but came back with two copies of delta f508. When he was diagnosed our CF doctor told us that CFers are born with normal lungs, in fact DS, who just turned 4 very, very rarely coughs -- maybe if he swallows wrong or if he's gotten an upper respiratory infection. Wasn't until he started pulmozyme that I actually saw his nose run for the first time ever.

And his poop was never really nasty smelling. Sometimes it was looser and when on formula smelled like feta cheese...
 

Ratatosk

Administrator
Staff member
DS really didn't taste salty until he was older -- he's also the one who had a normal 32 sweat test, but came back with two copies of delta f508. When he was diagnosed our CF doctor told us that CFers are born with normal lungs, in fact DS, who just turned 4 very, very rarely coughs -- maybe if he swallows wrong or if he's gotten an upper respiratory infection. Wasn't until he started pulmozyme that I actually saw his nose run for the first time ever.

And his poop was never really nasty smelling. Sometimes it was looser and when on formula smelled like feta cheese...
 

Ratatosk

Administrator
Staff member
DS really didn't taste salty until he was older -- he's also the one who had a normal 32 sweat test, but came back with two copies of delta f508. When he was diagnosed our CF doctor told us that CFers are born with normal lungs, in fact DS, who just turned 4 very, very rarely coughs -- maybe if he swallows wrong or if he's gotten an upper respiratory infection. Wasn't until he started pulmozyme that I actually saw his nose run for the first time ever.

And his poop was never really nasty smelling. Sometimes it was looser and when on formula smelled like feta cheese...
 

Ratatosk

Administrator
Staff member
DS really didn't taste salty until he was older -- he's also the one who had a normal 32 sweat test, but came back with two copies of delta f508. When he was diagnosed our CF doctor told us that CFers are born with normal lungs, in fact DS, who just turned 4 very, very rarely coughs -- maybe if he swallows wrong or if he's gotten an upper respiratory infection. Wasn't until he started pulmozyme that I actually saw his nose run for the first time ever.

And his poop was never really nasty smelling. Sometimes it was looser and when on formula smelled like feta cheese...
 

okok

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>larch07</b></i>

Thank you for all your replys. I thought I would just clear a few things up.

Firstly the test they used for the DNA was a gel based one, which I guess rules out the chance of F508c.

I think i misunderstood the first time i read this. I thought that you said only your genetic test was preformed by gel electrophoresis. If you daughter's test was preformed by this method then she definately has CF (and two deletions). But it is great she is doing so well that you are doubting she has CF. Keep up the good work. It sounds as if you are taking great care of her.
 

okok

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>larch07</b></i>

Thank you for all your replys. I thought I would just clear a few things up.

Firstly the test they used for the DNA was a gel based one, which I guess rules out the chance of F508c.

I think i misunderstood the first time i read this. I thought that you said only your genetic test was preformed by gel electrophoresis. If you daughter's test was preformed by this method then she definately has CF (and two deletions). But it is great she is doing so well that you are doubting she has CF. Keep up the good work. It sounds as if you are taking great care of her.
 

okok

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>larch07</b></i>

Thank you for all your replys. I thought I would just clear a few things up.

Firstly the test they used for the DNA was a gel based one, which I guess rules out the chance of F508c.

I think i misunderstood the first time i read this. I thought that you said only your genetic test was preformed by gel electrophoresis. If you daughter's test was preformed by this method then she definately has CF (and two deletions). But it is great she is doing so well that you are doubting she has CF. Keep up the good work. It sounds as if you are taking great care of her.
 

okok

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>larch07</b></i>

Thank you for all your replys. I thought I would just clear a few things up.

Firstly the test they used for the DNA was a gel based one, which I guess rules out the chance of F508c.

I think i misunderstood the first time i read this. I thought that you said only your genetic test was preformed by gel electrophoresis. If you daughter's test was preformed by this method then she definately has CF (and two deletions). But it is great she is doing so well that you are doubting she has CF. Keep up the good work. It sounds as if you are taking great care of her.
 
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