I need some advice please!!!!!!!!!!!!!!

Koleen · Jan 22, 2008

O.k. my daughter had two sweat test done one showed 68 and the other was borderline. Next we did the stool sample, chest X-ray, DNA, Vitiam check.
They told me she had CF. She went into the doc. for a cold and cough, she always seems to get the same bad cold and cough every year. So they sent us for testing for CF. Her stool came back great, her vitiams great her DNA we just received back today no gene mutations found. Nothing, not even one. They where checking her blood for about four weeks. Now what is a mother to think. The doc. cant give me a straight answer, cause clinicly she tested postive on one sweat test and showed only the sign of infecation when she was sick. But how can someone have CF without any mutations? The mutation is what cause's the CF right???
I'm lost for words right now. I also read that seven other diseases can cause a false positive sweat test. Adrenal insufficency, hypothreosis, fucosidsis. Where do I go from here?????
Should I go get a DNA test???

Koleen · Jan 22, 2008

O.k. my daughter had two sweat test done one showed 68 and the other was borderline. Next we did the stool sample, chest X-ray, DNA, Vitiam check.
They told me she had CF. She went into the doc. for a cold and cough, she always seems to get the same bad cold and cough every year. So they sent us for testing for CF. Her stool came back great, her vitiams great her DNA we just received back today no gene mutations found. Nothing, not even one. They where checking her blood for about four weeks. Now what is a mother to think. The doc. cant give me a straight answer, cause clinicly she tested postive on one sweat test and showed only the sign of infecation when she was sick. But how can someone have CF without any mutations? The mutation is what cause's the CF right???
I'm lost for words right now. I also read that seven other diseases can cause a false positive sweat test. Adrenal insufficency, hypothreosis, fucosidsis. Where do I go from here?????
Should I go get a DNA test???

Koleen · Jan 22, 2008

O.k. my daughter had two sweat test done one showed 68 and the other was borderline. Next we did the stool sample, chest X-ray, DNA, Vitiam check.
They told me she had CF. She went into the doc. for a cold and cough, she always seems to get the same bad cold and cough every year. So they sent us for testing for CF. Her stool came back great, her vitiams great her DNA we just received back today no gene mutations found. Nothing, not even one. They where checking her blood for about four weeks. Now what is a mother to think. The doc. cant give me a straight answer, cause clinicly she tested postive on one sweat test and showed only the sign of infecation when she was sick. But how can someone have CF without any mutations? The mutation is what cause's the CF right???
I'm lost for words right now. I also read that seven other diseases can cause a false positive sweat test. Adrenal insufficency, hypothreosis, fucosidsis. Where do I go from here?????
Should I go get a DNA test???

Koleen · Jan 22, 2008

O.k. my daughter had two sweat test done one showed 68 and the other was borderline. Next we did the stool sample, chest X-ray, DNA, Vitiam check.
They told me she had CF. She went into the doc. for a cold and cough, she always seems to get the same bad cold and cough every year. So they sent us for testing for CF. Her stool came back great, her vitiams great her DNA we just received back today no gene mutations found. Nothing, not even one. They where checking her blood for about four weeks. Now what is a mother to think. The doc. cant give me a straight answer, cause clinicly she tested postive on one sweat test and showed only the sign of infecation when she was sick. But how can someone have CF without any mutations? The mutation is what cause's the CF right???
I'm lost for words right now. I also read that seven other diseases can cause a false positive sweat test. Adrenal insufficency, hypothreosis, fucosidsis. Where do I go from here?????
Should I go get a DNA test???

Koleen · Jan 22, 2008

O.k. my daughter had two sweat test done one showed 68 and the other was borderline. Next we did the stool sample, chest X-ray, DNA, Vitiam check.
They told me she had CF. She went into the doc. for a cold and cough, she always seems to get the same bad cold and cough every year. So they sent us for testing for CF. Her stool came back great, her vitiams great her DNA we just received back today no gene mutations found. Nothing, not even one. They where checking her blood for about four weeks. Now what is a mother to think. The doc. cant give me a straight answer, cause clinicly she tested postive on one sweat test and showed only the sign of infecation when she was sick. But how can someone have CF without any mutations? The mutation is what cause's the CF right???
I'm lost for words right now. I also read that seven other diseases can cause a false positive sweat test. Adrenal insufficency, hypothreosis, fucosidsis. Where do I go from here?????
Should I go get a DNA test???

JazzysMom · Jan 22, 2008

Do you know how many gene mutations they asked to be tested for and which company did it? There are over 1500 mutations & sadly often the smallest panel are done first.

Did she have any sputum cultures to see if she is growing any bacteria that is common with CF in her lungs?

You cant have CF without mutations because that is what causes it, but it is possible that the mutations are unknown yet OR there is the possibility she does not have CF.

If you could find out exactly which mutation test was ordered....that would give you a better idea of where to go. BTW was the sweat testing done at an accredited CF center? This is important!

I am sorry you are going through this limbo.

We are here for ya!

JazzysMom · Jan 22, 2008

Do you know how many gene mutations they asked to be tested for and which company did it? There are over 1500 mutations & sadly often the smallest panel are done first.

Did she have any sputum cultures to see if she is growing any bacteria that is common with CF in her lungs?

You cant have CF without mutations because that is what causes it, but it is possible that the mutations are unknown yet OR there is the possibility she does not have CF.

If you could find out exactly which mutation test was ordered....that would give you a better idea of where to go. BTW was the sweat testing done at an accredited CF center? This is important!

I am sorry you are going through this limbo.

We are here for ya!

JazzysMom · Jan 22, 2008

Do you know how many gene mutations they asked to be tested for and which company did it? There are over 1500 mutations & sadly often the smallest panel are done first.

Did she have any sputum cultures to see if she is growing any bacteria that is common with CF in her lungs?

You cant have CF without mutations because that is what causes it, but it is possible that the mutations are unknown yet OR there is the possibility she does not have CF.

If you could find out exactly which mutation test was ordered....that would give you a better idea of where to go. BTW was the sweat testing done at an accredited CF center? This is important!

I am sorry you are going through this limbo.

We are here for ya!

JazzysMom · Jan 22, 2008

Do you know how many gene mutations they asked to be tested for and which company did it? There are over 1500 mutations & sadly often the smallest panel are done first.

Did she have any sputum cultures to see if she is growing any bacteria that is common with CF in her lungs?

You cant have CF without mutations because that is what causes it, but it is possible that the mutations are unknown yet OR there is the possibility she does not have CF.

If you could find out exactly which mutation test was ordered....that would give you a better idea of where to go. BTW was the sweat testing done at an accredited CF center? This is important!

I am sorry you are going through this limbo.

We are here for ya!

JazzysMom · Jan 22, 2008

Do you know how many gene mutations they asked to be tested for and which company did it? There are over 1500 mutations & sadly often the smallest panel are done first.

Did she have any sputum cultures to see if she is growing any bacteria that is common with CF in her lungs?

You cant have CF without mutations because that is what causes it, but it is possible that the mutations are unknown yet OR there is the possibility she does not have CF.

If you could find out exactly which mutation test was ordered....that would give you a better idea of where to go. BTW was the sweat testing done at an accredited CF center? This is important!

I am sorry you are going through this limbo.

We are here for ya!

NYCLawGirl · Jan 22, 2008

I have CF and I have only one mutation. For a long time this totally baffled my doctors, until recently they discovered that I have one Delta mutation and one simply absent CFTR gene. Since CF is characterized by decreased CFTR function, not having one is the same as having the Delta mutation (i.e., no function at all). Apparently my doc had to run a special test to figure this out, but it is not really all that much more rare than any of the other uncommon mutations. You may want to request that the lab run this test especially if the sweat test and symptoms are positive.

NYCLawGirl · Jan 22, 2008

I have CF and I have only one mutation. For a long time this totally baffled my doctors, until recently they discovered that I have one Delta mutation and one simply absent CFTR gene. Since CF is characterized by decreased CFTR function, not having one is the same as having the Delta mutation (i.e., no function at all). Apparently my doc had to run a special test to figure this out, but it is not really all that much more rare than any of the other uncommon mutations. You may want to request that the lab run this test especially if the sweat test and symptoms are positive.

NYCLawGirl · Jan 22, 2008

I have CF and I have only one mutation. For a long time this totally baffled my doctors, until recently they discovered that I have one Delta mutation and one simply absent CFTR gene. Since CF is characterized by decreased CFTR function, not having one is the same as having the Delta mutation (i.e., no function at all). Apparently my doc had to run a special test to figure this out, but it is not really all that much more rare than any of the other uncommon mutations. You may want to request that the lab run this test especially if the sweat test and symptoms are positive.

NYCLawGirl · Jan 22, 2008

I have CF and I have only one mutation. For a long time this totally baffled my doctors, until recently they discovered that I have one Delta mutation and one simply absent CFTR gene. Since CF is characterized by decreased CFTR function, not having one is the same as having the Delta mutation (i.e., no function at all). Apparently my doc had to run a special test to figure this out, but it is not really all that much more rare than any of the other uncommon mutations. You may want to request that the lab run this test especially if the sweat test and symptoms are positive.

NYCLawGirl · Jan 22, 2008

I have CF and I have only one mutation. For a long time this totally baffled my doctors, until recently they discovered that I have one Delta mutation and one simply absent CFTR gene. Since CF is characterized by decreased CFTR function, not having one is the same as having the Delta mutation (i.e., no function at all). Apparently my doc had to run a special test to figure this out, but it is not really all that much more rare than any of the other uncommon mutations. You may want to request that the lab run this test especially if the sweat test and symptoms are positive.

Koleen · Jan 23, 2008