Can you have CF without a mutated gene and failed sweat test?

[onlytraci]

My daughter, age 10, has taken 4 sweat tests, 3 were boarder line and one was positive (60). I took her to a CF center where they determined yes she probably has CF. BUT the extensive mutate gene test came back with nothing. Her fecal test showed that it was boarder line for CF also. She is super tiny, in the negative for BMI, she looks about 2 years younger and her bone growth is a year behind.

Her doctor thought it would be a good idea for me to get tested also. I took the sweat test and it came back borderline (45). I am 40 years old, 5'2, 102 pounds and have battled with stomach issues and low weight my whole life.

Is it possible to have CF without finding a mutated gene? Everything pointed to yes until that came back with nothing. Her Dr. explained that the mutations change and new ones might not be found. Anyone ever here of this?

 

[onlytraci]

My daughter, age 10, has taken 4 sweat tests, 3 were boarder line and one was positive (60). I took her to a CF center where they determined yes she probably has CF. BUT the extensive mutate gene test came back with nothing. Her fecal test showed that it was boarder line for CF also. She is super tiny, in the negative for BMI, she looks about 2 years younger and her bone growth is a year behind.

Her doctor thought it would be a good idea for me to get tested also. I took the sweat test and it came back borderline (45). I am 40 years old, 5'2, 102 pounds and have battled with stomach issues and low weight my whole life.

Is it possible to have CF without finding a mutated gene? Everything pointed to yes until that came back with nothing. Her Dr. explained that the mutations change and new ones might not be found. Anyone ever here of this?

 

[onlytraci]

My daughter, age 10, has taken 4 sweat tests, 3 were boarder line and one was positive (60). I took her to a CF center where they determined yes she probably has CF. BUT the extensive mutate gene test came back with nothing. Her fecal test showed that it was boarder line for CF also. She is super tiny, in the negative for BMI, she looks about 2 years younger and her bone growth is a year behind.

Her doctor thought it would be a good idea for me to get tested also. I took the sweat test and it came back borderline (45). I am 40 years old, 5'2, 102 pounds and have battled with stomach issues and low weight my whole life.

Is it possible to have CF without finding a mutated gene? Everything pointed to yes until that came back with nothing. Her Dr. explained that the mutations change and new ones might not be found. Anyone ever here of this?

 

[onlytraci]

My daughter, age 10, has taken 4 sweat tests, 3 were boarder line and one was positive (60). I took her to a CF center where they determined yes she probably has CF. BUT the extensive mutate gene test came back with nothing. Her fecal test showed that it was boarder line for CF also. She is super tiny, in the negative for BMI, she looks about 2 years younger and her bone growth is a year behind.

Her doctor thought it would be a good idea for me to get tested also. I took the sweat test and it came back borderline (45). I am 40 years old, 5'2, 102 pounds and have battled with stomach issues and low weight my whole life.

Is it possible to have CF without finding a mutated gene? Everything pointed to yes until that came back with nothing. Her Dr. explained that the mutations change and new ones might not be found. Anyone ever here of this?

 

[onlytraci]

My daughter, age 10, has taken 4 sweat tests, 3 were boarder line and one was positive (60). I took her to a CF center where they determined yes she probably has CF. BUT the extensive mutate gene test came back with nothing. Her fecal test showed that it was boarder line for CF also. She is super tiny, in the negative for BMI, she looks about 2 years younger and her bone growth is a year behind.
<br />
<br />Her doctor thought it would be a good idea for me to get tested also. I took the sweat test and it came back borderline (45). I am 40 years old, 5'2, 102 pounds and have battled with stomach issues and low weight my whole life.
<br />
<br />Is it possible to have CF without finding a mutated gene? Everything pointed to yes until that came back with nothing. Her Dr. explained that the mutations change and new ones might not be found. Anyone ever here of this?

 

[NYCLawGirl]

having two novel mutations would be rare bot certainly possible. it would simply mean that your daughter has two mutations that haven't been discovered yet.

does your daughter have any lung/pulmonary symptoms, such as a history of productive cough, frequent infections, sinus problems, or "asthma" symptoms? certainly not every 10 year old with CF has those, but many do and particularly CFers who have genes that lead to pancreatic insufficiency.

there are some diseases that can cause false positives on sweat tests and involve pancreatic insufficiency. i think shwachman-diamond syndrome is the most common: <a target=_blank class=ftalternatingbarlinklarge href="http://en.wikipedia.org/wiki/Shwachman%E2%80%93Bodian%E2%80%93Diamond_syndrome">http://en.wikipedia.org/wiki/S...%80%93Diamond_syndrome</a>

 

[NYCLawGirl]

having two novel mutations would be rare bot certainly possible. it would simply mean that your daughter has two mutations that haven't been discovered yet.

does your daughter have any lung/pulmonary symptoms, such as a history of productive cough, frequent infections, sinus problems, or "asthma" symptoms? certainly not every 10 year old with CF has those, but many do and particularly CFers who have genes that lead to pancreatic insufficiency.

there are some diseases that can cause false positives on sweat tests and involve pancreatic insufficiency. i think shwachman-diamond syndrome is the most common: <a target=_blank class=ftalternatingbarlinklarge href="http://en.wikipedia.org/wiki/Shwachman%E2%80%93Bodian%E2%80%93Diamond_syndrome">http://en.wikipedia.org/wiki/S...%80%93Diamond_syndrome</a>

 

[NYCLawGirl]

having two novel mutations would be rare bot certainly possible. it would simply mean that your daughter has two mutations that haven't been discovered yet.

does your daughter have any lung/pulmonary symptoms, such as a history of productive cough, frequent infections, sinus problems, or "asthma" symptoms? certainly not every 10 year old with CF has those, but many do and particularly CFers who have genes that lead to pancreatic insufficiency.

there are some diseases that can cause false positives on sweat tests and involve pancreatic insufficiency. i think shwachman-diamond syndrome is the most common: <a target=_blank class=ftalternatingbarlinklarge href="http://en.wikipedia.org/wiki/Shwachman%E2%80%93Bodian%E2%80%93Diamond_syndrome">http://en.wikipedia.org/wiki/S...%80%93Diamond_syndrome</a>

 

[NYCLawGirl]

having two novel mutations would be rare bot certainly possible. it would simply mean that your daughter has two mutations that haven't been discovered yet.

does your daughter have any lung/pulmonary symptoms, such as a history of productive cough, frequent infections, sinus problems, or "asthma" symptoms? certainly not every 10 year old with CF has those, but many do and particularly CFers who have genes that lead to pancreatic insufficiency.

there are some diseases that can cause false positives on sweat tests and involve pancreatic insufficiency. i think shwachman-diamond syndrome is the most common: <a target=_blank class=ftalternatingbarlinklarge href="http://en.wikipedia.org/wiki/Shwachman%E2%80%93Bodian%E2%80%93Diamond_syndrome">http://en.wikipedia.org/wiki/S...%80%93Diamond_syndrome</a>

 

[NYCLawGirl]

having two novel mutations would be rare bot certainly possible. it would simply mean that your daughter has two mutations that haven't been discovered yet.
<br />
<br />does your daughter have any lung/pulmonary symptoms, such as a history of productive cough, frequent infections, sinus problems, or "asthma" symptoms? certainly not every 10 year old with CF has those, but many do and particularly CFers who have genes that lead to pancreatic insufficiency.
<br />
<br />there are some diseases that can cause false positives on sweat tests and involve pancreatic insufficiency. i think shwachman-diamond syndrome is the most common: <a target=_blank class=ftalternatingbarlinklarge href="http://en.wikipedia.org/wiki/Shwachman%E2%80%93Bodian%E2%80%93Diamond_syndrome">http://en.wikipedia.org/wiki/S...%80%93Diamond_syndrome</a>

 

[onlytraci]

She's had chronic sinus infections her whole life. Shes had tubes and adenoids removed both stemming from her sinus infections. Not a lot of Dr.s will address the sinus in children but will fix where the infection spreads too. She gets post nasal drip and "Bubbles in her throat" all the time.

You called it "novel mutations", it that the term for not finding a mutated gene? I know little about it.

Thanks for the link but doesn't seem to fits her symptoms.

Traci

 

[onlytraci]

She's had chronic sinus infections her whole life. Shes had tubes and adenoids removed both stemming from her sinus infections. Not a lot of Dr.s will address the sinus in children but will fix where the infection spreads too. She gets post nasal drip and "Bubbles in her throat" all the time.

You called it "novel mutations", it that the term for not finding a mutated gene? I know little about it.

Thanks for the link but doesn't seem to fits her symptoms.

Traci

 

[onlytraci]

She's had chronic sinus infections her whole life. Shes had tubes and adenoids removed both stemming from her sinus infections. Not a lot of Dr.s will address the sinus in children but will fix where the infection spreads too. She gets post nasal drip and "Bubbles in her throat" all the time.

You called it "novel mutations", it that the term for not finding a mutated gene? I know little about it.

Thanks for the link but doesn't seem to fits her symptoms.

Traci

 

[onlytraci]

She's had chronic sinus infections her whole life. Shes had tubes and adenoids removed both stemming from her sinus infections. Not a lot of Dr.s will address the sinus in children but will fix where the infection spreads too. She gets post nasal drip and "Bubbles in her throat" all the time.

You called it "novel mutations", it that the term for not finding a mutated gene? I know little about it.

Thanks for the link but doesn't seem to fits her symptoms.

Traci

 

[onlytraci]

She's had chronic sinus infections her whole life. Shes had tubes and adenoids removed both stemming from her sinus infections. Not a lot of Dr.s will address the sinus in children but will fix where the infection spreads too. She gets post nasal drip and "Bubbles in her throat" all the time.
<br />
<br />You called it "novel mutations", it that the term for not finding a mutated gene? I know little about it.
<br />
<br />Thanks for the link but doesn't seem to fits her symptoms.
<br />
<br />Traci

 

[NYCLawGirl]

"Novel" mutations means "new mutations." It's the term applied to mutations that seem to be newly discovered in a specific individual -- hence if your daughter has two mutations that don't show up in the current list of CF mutations she would have two novel mutations. Again, this seems unlikely, but not impossible. It is, however, extremely unlikely that BOTH of you would have two sets of novel mutations (I only mention this b/c you said you were also tested). Remember that you would only have passed one of your mutations on to your daughter, so for both of you to have CF with two sets of novel mutations (which would also mean that your husband/father of your child would have had to carry a novel mutation as well) would be, I would think, very strange.

Interestingly, in order to have a "confirmed" diagnosis of CF for things like clinical trials and some insurance programs, the patient must either have had TWO positive sweat tests or two identifiable mutations. So it might be worth it to get her yet another sweat test, unfortunately, if she's only had one positive test. Some doctors will do a "treat as if CF" diagnosis, but that's not very helpful if it will exclude your daughter from important clinic trials, etc, in my opinion. Things like the fecal test aren't actually a diagnostic tool -- they can't check "for CF", they only check for pancreatic insufficiency. Have they checked for other classic "CF signs" like nasal polyps?

Sorry you're going through all this. It must be so frustrating to have your daughter's health up in the air like this. I hope you get more concrete answers soon!

 

[NYCLawGirl]

"Novel" mutations means "new mutations." It's the term applied to mutations that seem to be newly discovered in a specific individual -- hence if your daughter has two mutations that don't show up in the current list of CF mutations she would have two novel mutations. Again, this seems unlikely, but not impossible. It is, however, extremely unlikely that BOTH of you would have two sets of novel mutations (I only mention this b/c you said you were also tested). Remember that you would only have passed one of your mutations on to your daughter, so for both of you to have CF with two sets of novel mutations (which would also mean that your husband/father of your child would have had to carry a novel mutation as well) would be, I would think, very strange.

Interestingly, in order to have a "confirmed" diagnosis of CF for things like clinical trials and some insurance programs, the patient must either have had TWO positive sweat tests or two identifiable mutations. So it might be worth it to get her yet another sweat test, unfortunately, if she's only had one positive test. Some doctors will do a "treat as if CF" diagnosis, but that's not very helpful if it will exclude your daughter from important clinic trials, etc, in my opinion. Things like the fecal test aren't actually a diagnostic tool -- they can't check "for CF", they only check for pancreatic insufficiency. Have they checked for other classic "CF signs" like nasal polyps?

Sorry you're going through all this. It must be so frustrating to have your daughter's health up in the air like this. I hope you get more concrete answers soon!

 

[NYCLawGirl]

"Novel" mutations means "new mutations." It's the term applied to mutations that seem to be newly discovered in a specific individual -- hence if your daughter has two mutations that don't show up in the current list of CF mutations she would have two novel mutations. Again, this seems unlikely, but not impossible. It is, however, extremely unlikely that BOTH of you would have two sets of novel mutations (I only mention this b/c you said you were also tested). Remember that you would only have passed one of your mutations on to your daughter, so for both of you to have CF with two sets of novel mutations (which would also mean that your husband/father of your child would have had to carry a novel mutation as well) would be, I would think, very strange.

Interestingly, in order to have a "confirmed" diagnosis of CF for things like clinical trials and some insurance programs, the patient must either have had TWO positive sweat tests or two identifiable mutations. So it might be worth it to get her yet another sweat test, unfortunately, if she's only had one positive test. Some doctors will do a "treat as if CF" diagnosis, but that's not very helpful if it will exclude your daughter from important clinic trials, etc, in my opinion. Things like the fecal test aren't actually a diagnostic tool -- they can't check "for CF", they only check for pancreatic insufficiency. Have they checked for other classic "CF signs" like nasal polyps?

Sorry you're going through all this. It must be so frustrating to have your daughter's health up in the air like this. I hope you get more concrete answers soon!

 

[NYCLawGirl]

"Novel" mutations means "new mutations." It's the term applied to mutations that seem to be newly discovered in a specific individual -- hence if your daughter has two mutations that don't show up in the current list of CF mutations she would have two novel mutations. Again, this seems unlikely, but not impossible. It is, however, extremely unlikely that BOTH of you would have two sets of novel mutations (I only mention this b/c you said you were also tested). Remember that you would only have passed one of your mutations on to your daughter, so for both of you to have CF with two sets of novel mutations (which would also mean that your husband/father of your child would have had to carry a novel mutation as well) would be, I would think, very strange.

Interestingly, in order to have a "confirmed" diagnosis of CF for things like clinical trials and some insurance programs, the patient must either have had TWO positive sweat tests or two identifiable mutations. So it might be worth it to get her yet another sweat test, unfortunately, if she's only had one positive test. Some doctors will do a "treat as if CF" diagnosis, but that's not very helpful if it will exclude your daughter from important clinic trials, etc, in my opinion. Things like the fecal test aren't actually a diagnostic tool -- they can't check "for CF", they only check for pancreatic insufficiency. Have they checked for other classic "CF signs" like nasal polyps?

Sorry you're going through all this. It must be so frustrating to have your daughter's health up in the air like this. I hope you get more concrete answers soon!

 

[NYCLawGirl]

"Novel" mutations means "new mutations." It's the term applied to mutations that seem to be newly discovered in a specific individual -- hence if your daughter has two mutations that don't show up in the current list of CF mutations she would have two novel mutations. Again, this seems unlikely, but not impossible. It is, however, extremely unlikely that BOTH of you would have two sets of novel mutations (I only mention this b/c you said you were also tested). Remember that you would only have passed one of your mutations on to your daughter, so for both of you to have CF with two sets of novel mutations (which would also mean that your husband/father of your child would have had to carry a novel mutation as well) would be, I would think, very strange.
<br />
<br />Interestingly, in order to have a "confirmed" diagnosis of CF for things like clinical trials and some insurance programs, the patient must either have had TWO positive sweat tests or two identifiable mutations. So it might be worth it to get her yet another sweat test, unfortunately, if she's only had one positive test. Some doctors will do a "treat as if CF" diagnosis, but that's not very helpful if it will exclude your daughter from important clinic trials, etc, in my opinion. Things like the fecal test aren't actually a diagnostic tool -- they can't check "for CF", they only check for pancreatic insufficiency. Have they checked for other classic "CF signs" like nasal polyps?
<br />
<br />Sorry you're going through all this. It must be so frustrating to have your daughter's health up in the air like this. I hope you get more concrete answers soon!