could this be a TRUE diagnosis of CF?

[purplemartin]

Has anyone been diagnosed with CF even though the sweat test came back negative and <b>NO</b> other form of testing (Genetic, Nasal) was done to confirm a diagnosis?

I ask because, on another board I visit there is a post from a mother whose child's doctor is diagnosing her child with a "rare" form of CF even though the sweat test came back normal (which I know happens) but <b>NO</b> other additional testing has been done either.

Yes her child seems to have the classic symptoms of CF and her child is on enzymes which she states that they have no "reason" for why they are helping and that for that reason the child's doc is calling it a "rare" case of CF.

Can this really be a true diagnosis of CF?

 

[purplemartin]

Has anyone been diagnosed with CF even though the sweat test came back negative and <b>NO</b> other form of testing (Genetic, Nasal) was done to confirm a diagnosis?

I ask because, on another board I visit there is a post from a mother whose child's doctor is diagnosing her child with a "rare" form of CF even though the sweat test came back normal (which I know happens) but <b>NO</b> other additional testing has been done either.

Yes her child seems to have the classic symptoms of CF and her child is on enzymes which she states that they have no "reason" for why they are helping and that for that reason the child's doc is calling it a "rare" case of CF.

Can this really be a true diagnosis of CF?

 

[purplemartin]

Has anyone been diagnosed with CF even though the sweat test came back negative and <b>NO</b> other form of testing (Genetic, Nasal) was done to confirm a diagnosis?

I ask because, on another board I visit there is a post from a mother whose child's doctor is diagnosing her child with a "rare" form of CF even though the sweat test came back normal (which I know happens) but <b>NO</b> other additional testing has been done either.

Yes her child seems to have the classic symptoms of CF and her child is on enzymes which she states that they have no "reason" for why they are helping and that for that reason the child's doc is calling it a "rare" case of CF.

Can this really be a true diagnosis of CF?

 

[Alyssa]

No, I've never heard of a doctor calling it CF on symptoms alone (with normal sweat test) and no genetic testing.

It is not unheard of to treat people "as if they have CF" but that is usually after all other genetic testing has been explored and they can find no other reason for CF symptoms.

It does sound a little strange, but if he is getting good care and treatment that is helping that is a good thing. So many parents have to fight a huge battle to get their kids treated as if they have CF.

He really should have the genetic testing done. I wouldn't call it "rare" unless I knew what the genes were -- there are definitely people out there with "rare CF gene mutations" but they get to say that because Ambry (the genetic test people) tells them "we've only seen three other people with that particular gene"

Perhaps she misunderstood what he meant by "rare" maybe he meant it is rare to have a normal sweat test but still have CF, but that is still giving the doctor a lot of credit -- he should still be following through with genetic testing.

 

[Alyssa]

No, I've never heard of a doctor calling it CF on symptoms alone (with normal sweat test) and no genetic testing.

It is not unheard of to treat people "as if they have CF" but that is usually after all other genetic testing has been explored and they can find no other reason for CF symptoms.

It does sound a little strange, but if he is getting good care and treatment that is helping that is a good thing. So many parents have to fight a huge battle to get their kids treated as if they have CF.

He really should have the genetic testing done. I wouldn't call it "rare" unless I knew what the genes were -- there are definitely people out there with "rare CF gene mutations" but they get to say that because Ambry (the genetic test people) tells them "we've only seen three other people with that particular gene"

Perhaps she misunderstood what he meant by "rare" maybe he meant it is rare to have a normal sweat test but still have CF, but that is still giving the doctor a lot of credit -- he should still be following through with genetic testing.

 

[Alyssa]

No, I've never heard of a doctor calling it CF on symptoms alone (with normal sweat test) and no genetic testing.

It is not unheard of to treat people "as if they have CF" but that is usually after all other genetic testing has been explored and they can find no other reason for CF symptoms.

It does sound a little strange, but if he is getting good care and treatment that is helping that is a good thing. So many parents have to fight a huge battle to get their kids treated as if they have CF.

He really should have the genetic testing done. I wouldn't call it "rare" unless I knew what the genes were -- there are definitely people out there with "rare CF gene mutations" but they get to say that because Ambry (the genetic test people) tells them "we've only seen three other people with that particular gene"

Perhaps she misunderstood what he meant by "rare" maybe he meant it is rare to have a normal sweat test but still have CF, but that is still giving the doctor a lot of credit -- he should still be following through with genetic testing.

 

[okok]

There is an article published in the journal thorax titled <i>Cystic fibrosis: terminology and diagnostic algorithms</i> which details the diagnostic methods for diagonising cases of atypical CF. Typical CF is defined as sweat chloride greater than 60 mM and 1 or more phenotypic symptoms(ie pancreatic insufficiency, chronic sinopulmonary disease, salt loss syndromes, male genital abnormalities). Atypical CF is described as phenotypic syptoms in at least 1 organ system and a sweat chloride level less than 30mM. In this article, normal sweat chloride levels are strictly below 30mM and the borderline range is from 30-60mM.

In the case of atypical CF diagnosis is made by detection of two mutant CFTR alleles or by quantifying CFTR function using the nasal potential difference test.

In other words, most doctors would not make a diagnoses in someone with normal sweat chloride levels (below 30 mM) without having mutational evidence or nasal potential difference test to confirm the diagnoses.

Was your friend's sweat cholride below 30mM? Because it is possible it was between 30 and 40 mM and that he/she was also found to have pancreatic insuffiency and therefore it is presumed he/she has cf? Maybe mutational analysis was preformed but only one of his/her mutations was found?

 

[okok]

There is an article published in the journal thorax titled <i>Cystic fibrosis: terminology and diagnostic algorithms</i> which details the diagnostic methods for diagonising cases of atypical CF. Typical CF is defined as sweat chloride greater than 60 mM and 1 or more phenotypic symptoms(ie pancreatic insufficiency, chronic sinopulmonary disease, salt loss syndromes, male genital abnormalities). Atypical CF is described as phenotypic syptoms in at least 1 organ system and a sweat chloride level less than 30mM. In this article, normal sweat chloride levels are strictly below 30mM and the borderline range is from 30-60mM.

In the case of atypical CF diagnosis is made by detection of two mutant CFTR alleles or by quantifying CFTR function using the nasal potential difference test.

In other words, most doctors would not make a diagnoses in someone with normal sweat chloride levels (below 30 mM) without having mutational evidence or nasal potential difference test to confirm the diagnoses.

Was your friend's sweat cholride below 30mM? Because it is possible it was between 30 and 40 mM and that he/she was also found to have pancreatic insuffiency and therefore it is presumed he/she has cf? Maybe mutational analysis was preformed but only one of his/her mutations was found?

 

[okok]

There is an article published in the journal thorax titled <i>Cystic fibrosis: terminology and diagnostic algorithms</i> which details the diagnostic methods for diagonising cases of atypical CF. Typical CF is defined as sweat chloride greater than 60 mM and 1 or more phenotypic symptoms(ie pancreatic insufficiency, chronic sinopulmonary disease, salt loss syndromes, male genital abnormalities). Atypical CF is described as phenotypic syptoms in at least 1 organ system and a sweat chloride level less than 30mM. In this article, normal sweat chloride levels are strictly below 30mM and the borderline range is from 30-60mM.

In the case of atypical CF diagnosis is made by detection of two mutant CFTR alleles or by quantifying CFTR function using the nasal potential difference test.

In other words, most doctors would not make a diagnoses in someone with normal sweat chloride levels (below 30 mM) without having mutational evidence or nasal potential difference test to confirm the diagnoses.

Was your friend's sweat cholride below 30mM? Because it is possible it was between 30 and 40 mM and that he/she was also found to have pancreatic insuffiency and therefore it is presumed he/she has cf? Maybe mutational analysis was preformed but only one of his/her mutations was found?

 

[babycakes]

Hi

sorry to be off topic a bit but... What is a nasal potential difference test. How is it done and what does it test for??
Thanks

 

[babycakes]

Hi

sorry to be off topic a bit but... What is a nasal potential difference test. How is it done and what does it test for??
Thanks

 

[babycakes]

Hi

sorry to be off topic a bit but... What is a nasal potential difference test. How is it done and what does it test for??
Thanks

 

[okok]

In patient's whose cftr does not function normally there is a electrical potential gradient in the epithelium due to defective chloride transport. The cell tries to compensate for this defect by increasing sodium transport. Chloride is negatively charged and sodium is postively charged so that accounts for the electrical gradient in CFers. (The chloride cannot follow the sodium in CFers.) The nasal potential difference test measures this to quantify the amount of CFTR function. Not all centers preform this test so it is not a diagnostic option for many people. It is preformed by putting some soloutions and electrodes in the nose...it is relatively difficult to preform compared to the sweat test and not so easy for childern to sit through.

Purple martin, I was thinking about what you said above and it sounds more and more to me like maybe they did do genetic testing and were not able to find two CFTR mutations (they probably at least found one). Therefore, based on the patient's symptoms, they are assuming that the patient has one very rare mutation that is undectable/unknown. (the diagnosis seems like it would be a stretch without at least on cf mutation) I can't think of any reason why this person would use the term "rare" so frequently. She may not have understood her doctor's properly when they said that they are assuming she has a rare cf mutation. Perhaps she misinterpreted and thought they meant a rare form of CF??? Perhaps when she said they did not do any genetic testing they meant that could not make a diagnoses based on genetic testing alone because it was inconclusive???"

 

[okok]

In patient's whose cftr does not function normally there is a electrical potential gradient in the epithelium due to defective chloride transport. The cell tries to compensate for this defect by increasing sodium transport. Chloride is negatively charged and sodium is postively charged so that accounts for the electrical gradient in CFers. (The chloride cannot follow the sodium in CFers.) The nasal potential difference test measures this to quantify the amount of CFTR function. Not all centers preform this test so it is not a diagnostic option for many people. It is preformed by putting some soloutions and electrodes in the nose...it is relatively difficult to preform compared to the sweat test and not so easy for childern to sit through.

Purple martin, I was thinking about what you said above and it sounds more and more to me like maybe they did do genetic testing and were not able to find two CFTR mutations (they probably at least found one). Therefore, based on the patient's symptoms, they are assuming that the patient has one very rare mutation that is undectable/unknown. (the diagnosis seems like it would be a stretch without at least on cf mutation) I can't think of any reason why this person would use the term "rare" so frequently. She may not have understood her doctor's properly when they said that they are assuming she has a rare cf mutation. Perhaps she misinterpreted and thought they meant a rare form of CF??? Perhaps when she said they did not do any genetic testing they meant that could not make a diagnoses based on genetic testing alone because it was inconclusive???"

 

[okok]

In patient's whose cftr does not function normally there is a electrical potential gradient in the epithelium due to defective chloride transport. The cell tries to compensate for this defect by increasing sodium transport. Chloride is negatively charged and sodium is postively charged so that accounts for the electrical gradient in CFers. (The chloride cannot follow the sodium in CFers.) The nasal potential difference test measures this to quantify the amount of CFTR function. Not all centers preform this test so it is not a diagnostic option for many people. It is preformed by putting some soloutions and electrodes in the nose...it is relatively difficult to preform compared to the sweat test and not so easy for childern to sit through.

Purple martin, I was thinking about what you said above and it sounds more and more to me like maybe they did do genetic testing and were not able to find two CFTR mutations (they probably at least found one). Therefore, based on the patient's symptoms, they are assuming that the patient has one very rare mutation that is undectable/unknown. (the diagnosis seems like it would be a stretch without at least on cf mutation) I can't think of any reason why this person would use the term "rare" so frequently. She may not have understood her doctor's properly when they said that they are assuming she has a rare cf mutation. Perhaps she misinterpreted and thought they meant a rare form of CF??? Perhaps when she said they did not do any genetic testing they meant that could not make a diagnoses based on genetic testing alone because it was inconclusive???"

 

[Mommafirst]

It sounds a little odd, but if the enzymes are helping perhaps the baby was tested for pancreatic insufficiency. I'm not a hundred percent certain, but isn't CF the only reason for insufficiency??

 

[Mommafirst]

It sounds a little odd, but if the enzymes are helping perhaps the baby was tested for pancreatic insufficiency. I'm not a hundred percent certain, but isn't CF the only reason for insufficiency??

 

[Mommafirst]

It sounds a little odd, but if the enzymes are helping perhaps the baby was tested for pancreatic insufficiency. I'm not a hundred percent certain, but isn't CF the only reason for insufficiency??

 

[purplemartin]

Okay, I went back and re-read her post. There was NO other testing done, except for a sweat test, which was negative. I did misread the part about a diagnosis though. The ped thinks that with his body responding so well to the enzymes that there is a chance the child has a rare form of CF (thought it said he gave him a diagnosis)

I guess it bothers me in a way that a Ped would make such a statement but not order genetic testing to be done and then to base his theory on nothing more than pancreatic enzymes working for his patient. It just upsets me to see and fell CF taken so lightly sometimes in the medical community, of all places.

Why can't some docs see that CF is a serious disease, which needs a diagnosis soon so the best treatments can be started.

I did suggest to the poster that genetic testing needed to be done.

Don't know why that statement bothered me so, but it did. Maybe it's just me having one of those days where everything about CF makes me upset. Okay I'm done<img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[purplemartin]

Okay, I went back and re-read her post. There was NO other testing done, except for a sweat test, which was negative. I did misread the part about a diagnosis though. The ped thinks that with his body responding so well to the enzymes that there is a chance the child has a rare form of CF (thought it said he gave him a diagnosis)

I guess it bothers me in a way that a Ped would make such a statement but not order genetic testing to be done and then to base his theory on nothing more than pancreatic enzymes working for his patient. It just upsets me to see and fell CF taken so lightly sometimes in the medical community, of all places.

Why can't some docs see that CF is a serious disease, which needs a diagnosis soon so the best treatments can be started.

I did suggest to the poster that genetic testing needed to be done.

Don't know why that statement bothered me so, but it did. Maybe it's just me having one of those days where everything about CF makes me upset. Okay I'm done<img src="i/expressions/face-icon-small-smile.gif" border="0">