Nasal Potential Difference as Part of CF Dx process

[dragonlady]

<p>My daughter also tried the Nasal Difference at Hopkins, but she said it was uncomfortable and couldn't tolerate the thing so far back in her nasal passage.It was only for certification training and not diagnostic, so we didn't feel the pressure to continue with the test if it made her uncomfortable.

 

[Mistyjo]

Thanks so much for the info.  The nurse told me today it looks like we will be doing this test once all the other test results have come back.  I'm not sure why they're waiting.

 

[Mistyjo]

Thanks so much for the info. The nurse told me today it looks like we will be doing this test once all the other test results have come back. I'm not sure why they're waiting.

 

[Mistyjo]

<p>Thanks so much for the info. The nurse told me today it looks like we will be doing this test once all the other test results have come back. I'm not sure why they're waiting.

 

[hmw]

At this point, the NPD is very rarely done unless all other tests (newborn screen, sweat test, genetic sequencing, etc) are not able to yield conclusive answers. Out of the well over 100 accredited centers in the US we were told fewer than 20 of them even have the equipment & trained staff to perform this test. So... I am hoping the trial being done at CHOP (and a similar one is being done at another center, I believe) will help change that. Given the complexity of the disease and how differently it can present from one person to the next, we need every possible test we can get at our disposal if it can help give us answers!

 

[hmw]

At this point, the NPD is very rarely done unless all other tests (newborn screen, sweat test, genetic sequencing, etc) are not able to yield conclusive answers. Out of the well over 100 accredited centers in the US we were told fewer than 20 of them even have the equipment & trained staff to perform this test. So... I am hoping the trial being done at CHOP (and a similar one is being done at another center, I believe) will help change that. Given the complexity of the disease and how differently it can present from one person to the next, we need every possible test we can get at our disposal if it can help give us answers!

 

[hmw]

At this point, the NPD is very rarely done unless all other tests (newborn screen, sweat test, genetic sequencing, etc) are not able to yield conclusive answers. Out of the well over 100 accredited centers in the US we were told fewer than 20 of them even have the equipment & trained staff to perform this test. So... I am hoping the trial being done at CHOP (and a similar one is being done at another center, I believe) will help change that. Given the complexity of the disease and how differently it can present from one person to the next, we need every possible test we can get at our disposal if it can help give us answers!

 

[Mistyjo]

I didn't realize this test was so rare.  We go to Cincinnati Childrens and we see Dr. Clancy who is a CF specialist.  He is new to cincy.  He came from Univeristy of Alabama and he told my husband that he's done a lot of research on CF.  The nurse said his notes say that if none of the test show anything then we will do the NPD.  I feel like we are in good hands with him.  He has several years of experience with CF.  Thanks so much for the info!

 

[Mistyjo]

I didn't realize this test was so rare. We go to Cincinnati Childrens and we see Dr. Clancy who is a CF specialist. He is new to cincy. He came from Univeristy of Alabama and he told my husband that he's done a lot of research on CF. The nurse said his notes say that if none of the test show anything then we will do the NPD. I feel like we are in good hands with him. He has several years of experience with CF. Thanks so much for the info!

 

[Mistyjo]

<p>I didn't realize this test was so rare. We go to Cincinnati Childrens and we see Dr. Clancy who is a CF specialist. He is new to cincy. He came from Univeristy of Alabama and he told my husband that he's done a lot of research on CF. The nurse said his notes say that if none of the test show anything then we will do the NPD. I feel like we are in good hands with him. He has several years of experience with CF. Thanks so much for the info!

 

[Beccamom]

<hr />
Were told that the NPD was rare and that the CF clinical cooridinator at the Children's Hospital of Philadelphia was trained by the Cystic Fibrosis Foundation on how to implement the test.  I would also think that this test is rarely done because it is so time consuming for the tester.  It seemed to take many hours to set up before we arrived and about 1 1/2 hours to do the test after we came.  Hopefully this will become more readily available. I hope that more children and adults with inconclusive test results can get this test and begin treatment faster.

 

[Beccamom]

<hr />
Were told that the NPD was rare and that the CF clinical cooridinator at the Children's Hospital of Philadelphia was trained by the Cystic Fibrosis Foundation on how to implement the test. I would also think that this test is rarely done because it is so time consuming for the tester. It seemed to take many hours to set up before we arrived and about 1 1/2 hours to do the test after we came. Hopefully this will become more readily available.I hope that more children and adults with inconclusive test results can get this test and begin treatment faster.

 

[Beccamom]

<hr />
<p>Were told that the NPD was rare and that the CF clinical cooridinator at the Children's Hospital of Philadelphia was trained by the Cystic Fibrosis Foundation on how to implement the test. I would also think that this test is rarely done because it is so time consuming for the tester. It seemed to take many hours to set up before we arrived and about 1 1/2 hours to do the test after we came. Hopefully this will become more readily available.I hope that more children and adults with inconclusive test results can get this test and begin treatment faster.

 

[JennifersHope]

I was dx with CF about 10 years ago, I had many positive sweat tests but I also have a disease that is known to cause false positive sweat tests, Genetic testing reveled Df508 one of the most common genes. I cultured Pa and MRSA several times.

I moved to SC about three years ago and started being seen at MUSC, The doctors there felt that I did not fit the typical CF protocol and that most of my sickness is coming from something else.

They sent my blood work off to Mayo clinic which we were sure was going to come back negative for a second gene, instead it came back with the DF508 and a gene that has never been described before O1330E.

I then went to the University of North Carolina and had one nasal PD test done, it was done in there lab. I had very bad cold that day, figures, my nose was swollen, The test came back completely normal. Of course, thanks to the people on here, I went back and questioned the doctor about my test being normal since I had a bad cold.

The doctor said that the test would not come out normal if my nose was swollen enough to effect the test, it would turn out abnormal, it could still be negative but it wouldn't be normal, apparently I responded perfectly to the test, So 10 years almost of thinking I had CF, and I was undiagnosed.

I am still seen by one of the CF doctors there that runs a non CF clinic, Dr Flume, he is amazing. We don't exactly know what is wrong with me, we know I have severe reactive airway disease to the point of needing to be intubated (life support) if I am exposed to certain things.

Even going there last week, I had no cough, felt great, I was in the building for an hour, I had a rash and was wheezing by the time I left.

UNC is where the Nasal PD was invented

Best of luck to you

 

[JennifersHope]

I was dx with CF about 10 years ago, I had many positive sweat tests but I also have a disease that is known to cause false positive sweat tests, Genetic testing reveled Df508 one of the most common genes. I cultured Pa and MRSA several times.

I moved to SC about three years ago and started being seen at MUSC, The doctors there felt that I did not fit the typical CF protocol and that most of my sickness is coming from something else.

They sent my blood work off to Mayo clinic which we were sure was going to come back negative for a second gene, instead it came back with the DF508 and a gene that has never been described before O1330E.

I then went to the University of North Carolina and had one nasal PD test done, it was done in there lab. I had very bad cold that day, figures, my nose was swollen, The test came back completely normal. Of course, thanks to the people on here, I went back and questioned the doctor about my test being normal since I had a bad cold.

The doctor said that the test would not come out normal if my nose was swollen enough to effect the test, it would turn out abnormal, it could still be negative but it wouldn't be normal, apparently I responded perfectly to the test, So 10 years almost of thinking I had CF, and I was undiagnosed.

I am still seen by one of the CF doctors there that runs a non CF clinic, Dr Flume, he is amazing. We don't exactly know what is wrong with me, we know I have severe reactive airway disease to the point of needing to be intubated (life support) if I am exposed to certain things.

Even going there last week, I had no cough, felt great, I was in the building for an hour, I had a rash and was wheezing by the time I left.

UNC is where the Nasal PD was invented

Best of luck to you

 

[JennifersHope]

I was dx with CF about 10 years ago, I had many positive sweat tests but I also have a disease that is known to cause false positive sweat tests, Genetic testing reveled Df508 one of the most common genes. I cultured Pa and MRSA several times.
<br />
<br />I moved to SC about three years ago and started being seen at MUSC, The doctors there felt that I did not fit the typical CF protocol and that most of my sickness is coming from something else.
<br />
<br />They sent my blood work off to Mayo clinic which we were sure was going to come back negative for a second gene, instead it came back with the DF508 and a gene that has never been described before O1330E.
<br />
<br />I then went to the University of North Carolina and had one nasal PD test done, it was done in there lab. I had very bad cold that day, figures, my nose was swollen, The test came back completely normal. Of course, thanks to the people on here, I went back and questioned the doctor about my test being normal since I had a bad cold.
<br />
<br />The doctor said that the test would not come out normal if my nose was swollen enough to effect the test, it would turn out abnormal, it could still be negative but it wouldn't be normal, apparently I responded perfectly to the test, So 10 years almost of thinking I had CF, and I was undiagnosed.
<br />
<br />I am still seen by one of the CF doctors there that runs a non CF clinic, Dr Flume, he is amazing. We don't exactly know what is wrong with me, we know I have severe reactive airway disease to the point of needing to be intubated (life support) if I am exposed to certain things.
<br />
<br />Even going there last week, I had no cough, felt great, I was in the building for an hour, I had a rash and was wheezing by the time I left.
<br />
<br />UNC is where the Nasal PD was invented
<br />
<br />Best of luck to you

 

[Karenmichelle]

Question for Jennifer~So, if genetic testing comes back showing mutations of CF, and you have symptoms, you can have normal NPD test and NOT be diagnosed with CF? It was my understanding that if you do have symptoms and genetic mutations, that you WILL be diagnosed with CF. (Sorry if this is a "dumb" question, but just wondering.)

 

[Karenmichelle]

Question for Jennifer~So, if genetic testing comes back showing mutations of CF, and you have symptoms, you can have normal NPD test and NOT be diagnosed with CF? It was my understanding that if you do have symptoms and genetic mutations, that you WILL be diagnosed with CF. (Sorry if this is a "dumb" question, but just wondering.)

 

[Karenmichelle]

<p>Question for Jennifer~So, if genetic testing comes back showing mutations of CF, and you have symptoms, you can have normal NPD test and NOT be diagnosed with CF? It was my understanding that if you do have symptoms and genetic mutations, that you WILL be diagnosed with CF. (Sorry if this is a "dumb" question, but just wondering.)

 

[mom2owen]

This is all such good information. I agree that it is helpful that there is something out there that COULD help those of us in this undiagnosed situation. I am frustrated that so many are not getting adequate treatment only because of lab results not being conclusive. I realize you need criterion for diagnosis but I get so annoyed that the whole picture of a patient, including their actual symptoms can be ignored in place of lab results.
I am actually hesitant to do the NPD because Owen's nose and sinuses are "swollen and erythmatous" and he is using sprays at the moment. I contacted Christine at CHOP and she did say he would need to be off his meds before coming and that if he has active inflammation, it would affect the results. If he is not on his meds, he does have inflammation so we are in a catch-22. I would hate to commit to traveling, going through an uncomfortable test to find out nothing! And, to top it off, Owen gets severe bloody noses and I worry if that would happen with the NPD and make the effort fruitless.
At the same time, since we are not given full treatment and what we do get we have had to fight for, it would be worth a shot to try the NPD when we have as good of health as possible.
Another question I have though is how will other clinics respond to test results from an NPD? Even if it is abnormal and indicative of CF could some clinics write it off saying it is experimental? Our clinic here does them but has never even suggested it.