Nervously Waiting for Results

[Nervous1]

Hi Everybody,

I have been lurking on your board for the past couple of weeks because there is evidently a chance I have CF.

I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.

My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.

A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal. Is it?

I insisted on genetic testing, and am now waiting for the results of that. Since I don't live in the US I doubt that they are doing the Ambry. However, since I am an Ashkenazi Jew is the Ambry really necessary?

Thanks in advance to all of you. I have learned a lot from your posts, and take my hat off to you all. I would be greatful for you thoughts on whether you think this might be CF, and any other advise you can give!

 

[Nervous1]

Hi Everybody,

I have been lurking on your board for the past couple of weeks because there is evidently a chance I have CF.

I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.

My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.

A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal. Is it?

I insisted on genetic testing, and am now waiting for the results of that. Since I don't live in the US I doubt that they are doing the Ambry. However, since I am an Ashkenazi Jew is the Ambry really necessary?

Thanks in advance to all of you. I have learned a lot from your posts, and take my hat off to you all. I would be greatful for you thoughts on whether you think this might be CF, and any other advise you can give!

 

[Nervous1]

Hi Everybody,

I have been lurking on your board for the past couple of weeks because there is evidently a chance I have CF.

I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.

My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.

A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal. Is it?

I insisted on genetic testing, and am now waiting for the results of that. Since I don't live in the US I doubt that they are doing the Ambry. However, since I am an Ashkenazi Jew is the Ambry really necessary?

Thanks in advance to all of you. I have learned a lot from your posts, and take my hat off to you all. I would be greatful for you thoughts on whether you think this might be CF, and any other advise you can give!

 

[Nervous1]

Hi Everybody,

I have been lurking on your board for the past couple of weeks because there is evidently a chance I have CF.

I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.

My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.

A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal. Is it?

I insisted on genetic testing, and am now waiting for the results of that. Since I don't live in the US I doubt that they are doing the Ambry. However, since I am an Ashkenazi Jew is the Ambry really necessary?

Thanks in advance to all of you. I have learned a lot from your posts, and take my hat off to you all. I would be greatful for you thoughts on whether you think this might be CF, and any other advise you can give!

 

[Nervous1]

Hi Everybody,

I have been lurking on your board for the past couple of weeks because there is evidently a chance I have CF.

I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.

My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.

A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal. Is it?

I insisted on genetic testing, and am now waiting for the results of that. Since I don't live in the US I doubt that they are doing the Ambry. However, since I am an Ashkenazi Jew is the Ambry really necessary?

Thanks in advance to all of you. I have learned a lot from your posts, and take my hat off to you all. I would be greatful for you thoughts on whether you think this might be CF, and any other advise you can give!

 

[Nervous1]

Hi Everybody,

I have been lurking on your board for the past couple of weeks because there is evidently a chance I have CF.

I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.

My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.

A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal. Is it?

I insisted on genetic testing, and am now waiting for the results of that. Since I don't live in the US I doubt that they are doing the Ambry. However, since I am an Ashkenazi Jew is the Ambry really necessary?

Thanks in advance to all of you. I have learned a lot from your posts, and take my hat off to you all. I would be greatful for you thoughts on whether you think this might be CF, and any other advise you can give!

 

[lightNlife]

Hello Nervous1,
Welcome to the site. I'm sorry that you've been living without a confirming diagnosis. I hope that you have an answer soon so that you can get started on the best available treatment.

I recommend you go for the best available Ambry testing. At this point you've had so many wrong answers that you may as well get to the bottom of things! I'm glad to hear your FEV1 has improved. Keep up the walking as much as your able.

You asked about the sweat test. A result of 36 does indicate that cystic fibrosis is highly unlikely. However, genetic testing is FAR more conclusive. Here's an article about sweat tests. <a target=_blank class=ftalternatingbarlinklarge href="http://www.associatedcontent.com/article/230815/diagnosing_cystic_fibrosis_how_a_sweat.html
">http://www.associatedcontent.c...osis_how_a_sweat.html
</a>
Best wishes to you.

-Lauren <><

 

[lightNlife]

Hello Nervous1,
Welcome to the site. I'm sorry that you've been living without a confirming diagnosis. I hope that you have an answer soon so that you can get started on the best available treatment.

I recommend you go for the best available Ambry testing. At this point you've had so many wrong answers that you may as well get to the bottom of things! I'm glad to hear your FEV1 has improved. Keep up the walking as much as your able.

You asked about the sweat test. A result of 36 does indicate that cystic fibrosis is highly unlikely. However, genetic testing is FAR more conclusive. Here's an article about sweat tests. <a target=_blank class=ftalternatingbarlinklarge href="http://www.associatedcontent.com/article/230815/diagnosing_cystic_fibrosis_how_a_sweat.html
">http://www.associatedcontent.c...osis_how_a_sweat.html
</a>
Best wishes to you.

-Lauren <><

 

[lightNlife]

Hello Nervous1,
Welcome to the site. I'm sorry that you've been living without a confirming diagnosis. I hope that you have an answer soon so that you can get started on the best available treatment.

I recommend you go for the best available Ambry testing. At this point you've had so many wrong answers that you may as well get to the bottom of things! I'm glad to hear your FEV1 has improved. Keep up the walking as much as your able.

You asked about the sweat test. A result of 36 does indicate that cystic fibrosis is highly unlikely. However, genetic testing is FAR more conclusive. Here's an article about sweat tests. <a target=_blank class=ftalternatingbarlinklarge href="http://www.associatedcontent.com/article/230815/diagnosing_cystic_fibrosis_how_a_sweat.html
">http://www.associatedcontent.c...osis_how_a_sweat.html
</a>
Best wishes to you.

-Lauren <><

 

[lightNlife]

Hello Nervous1,
Welcome to the site. I'm sorry that you've been living without a confirming diagnosis. I hope that you have an answer soon so that you can get started on the best available treatment.

I recommend you go for the best available Ambry testing. At this point you've had so many wrong answers that you may as well get to the bottom of things! I'm glad to hear your FEV1 has improved. Keep up the walking as much as your able.

You asked about the sweat test. A result of 36 does indicate that cystic fibrosis is highly unlikely. However, genetic testing is FAR more conclusive. Here's an article about sweat tests. <a target=_blank class=ftalternatingbarlinklarge href="http://www.associatedcontent.com/article/230815/diagnosing_cystic_fibrosis_how_a_sweat.html
">http://www.associatedcontent.c...osis_how_a_sweat.html
</a>
Best wishes to you.

-Lauren <><

 

[lightNlife]

Hello Nervous1,
Welcome to the site. I'm sorry that you've been living without a confirming diagnosis. I hope that you have an answer soon so that you can get started on the best available treatment.

I recommend you go for the best available Ambry testing. At this point you've had so many wrong answers that you may as well get to the bottom of things! I'm glad to hear your FEV1 has improved. Keep up the walking as much as your able.

You asked about the sweat test. A result of 36 does indicate that cystic fibrosis is highly unlikely. However, genetic testing is FAR more conclusive. Here's an article about sweat tests. <a target=_blank class=ftalternatingbarlinklarge href="http://www.associatedcontent.com/article/230815/diagnosing_cystic_fibrosis_how_a_sweat.html
">http://www.associatedcontent.c...osis_how_a_sweat.html
</a>
Best wishes to you.

-Lauren <><

 

[lightNlife]

Hello Nervous1,
Welcome to the site. I'm sorry that you've been living without a confirming diagnosis. I hope that you have an answer soon so that you can get started on the best available treatment.

I recommend you go for the best available Ambry testing. At this point you've had so many wrong answers that you may as well get to the bottom of things! I'm glad to hear your FEV1 has improved. Keep up the walking as much as your able.

You asked about the sweat test. A result of 36 does indicate that cystic fibrosis is highly unlikely. However, genetic testing is FAR more conclusive. Here's an article about sweat tests. <a target=_blank class=ftalternatingbarlinklarge href="http://www.associatedcontent.com/article/230815/diagnosing_cystic_fibrosis_how_a_sweat.html
">http://www.associatedcontent.c...osis_how_a_sweat.html
</a>
Best wishes to you.

-Lauren <><

 

[Mommafirst]

Hi. Sorry to hear your situation. I just wanted to address your point about being an Ashkenazi Jew. I believe that you can get a panel of mutations tested that will address specificially those known to run in the Ashkenazi Jewish populations. I know that when my daughter was first tested, they asked our ethnicities and when they discovered that I am Ashkenazi Jewish they ran a panel. When my daughter came up with W1282X (one of the jewish ones) they then searched ALL the mutations to make sure she didn't have a second one -- and she did have a second one.

So I'd suggest that if they find one mutation in the bunch they look for that you don't let them stop until they have discovered whether you have any others.

I wish you luck in finding some answers.

 

[Mommafirst]

Hi. Sorry to hear your situation. I just wanted to address your point about being an Ashkenazi Jew. I believe that you can get a panel of mutations tested that will address specificially those known to run in the Ashkenazi Jewish populations. I know that when my daughter was first tested, they asked our ethnicities and when they discovered that I am Ashkenazi Jewish they ran a panel. When my daughter came up with W1282X (one of the jewish ones) they then searched ALL the mutations to make sure she didn't have a second one -- and she did have a second one.

So I'd suggest that if they find one mutation in the bunch they look for that you don't let them stop until they have discovered whether you have any others.

I wish you luck in finding some answers.

 

[Mommafirst]

Hi. Sorry to hear your situation. I just wanted to address your point about being an Ashkenazi Jew. I believe that you can get a panel of mutations tested that will address specificially those known to run in the Ashkenazi Jewish populations. I know that when my daughter was first tested, they asked our ethnicities and when they discovered that I am Ashkenazi Jewish they ran a panel. When my daughter came up with W1282X (one of the jewish ones) they then searched ALL the mutations to make sure she didn't have a second one -- and she did have a second one.

So I'd suggest that if they find one mutation in the bunch they look for that you don't let them stop until they have discovered whether you have any others.

I wish you luck in finding some answers.

 

[Mommafirst]

Hi. Sorry to hear your situation. I just wanted to address your point about being an Ashkenazi Jew. I believe that you can get a panel of mutations tested that will address specificially those known to run in the Ashkenazi Jewish populations. I know that when my daughter was first tested, they asked our ethnicities and when they discovered that I am Ashkenazi Jewish they ran a panel. When my daughter came up with W1282X (one of the jewish ones) they then searched ALL the mutations to make sure she didn't have a second one -- and she did have a second one.

So I'd suggest that if they find one mutation in the bunch they look for that you don't let them stop until they have discovered whether you have any others.

I wish you luck in finding some answers.

 

[Mommafirst]

Hi. Sorry to hear your situation. I just wanted to address your point about being an Ashkenazi Jew. I believe that you can get a panel of mutations tested that will address specificially those known to run in the Ashkenazi Jewish populations. I know that when my daughter was first tested, they asked our ethnicities and when they discovered that I am Ashkenazi Jewish they ran a panel. When my daughter came up with W1282X (one of the jewish ones) they then searched ALL the mutations to make sure she didn't have a second one -- and she did have a second one.

So I'd suggest that if they find one mutation in the bunch they look for that you don't let them stop until they have discovered whether you have any others.

I wish you luck in finding some answers.

 

[Mommafirst]

Hi. Sorry to hear your situation. I just wanted to address your point about being an Ashkenazi Jew. I believe that you can get a panel of mutations tested that will address specificially those known to run in the Ashkenazi Jewish populations. I know that when my daughter was first tested, they asked our ethnicities and when they discovered that I am Ashkenazi Jewish they ran a panel. When my daughter came up with W1282X (one of the jewish ones) they then searched ALL the mutations to make sure she didn't have a second one -- and she did have a second one.

So I'd suggest that if they find one mutation in the bunch they look for that you don't let them stop until they have discovered whether you have any others.

I wish you luck in finding some answers.

 

[Alyssa]

I strongly disagree with the wording in the article that Lauren posted, where they say sweat test under 40 is "highly unlikely." The most I would say is somewhat less likely but even that I couldn't confidently say, when a person is also showing symptoms of CF.

<b>The truth is MANY people who have CF, have sweat test numbers in the 20's and 30's. </b>

My daughter has been testing out at 38 since she was 5 years old, we now know she has two CF mutations because of genetic testing. My son test out at 41 and also has both mutations. There are many other people on this site who test out even lower than my kids - if you want to hear from them try searching the subject or better yet start a new post in the adult section and the family section asking people to respond if they have sweat test numbers under 40.

My daughter was clearly misdiagnosed and we were mislead for 8 years because the doctors relied on sweat test numbers only. <b>It is especially important that you continue to pursue possible CF diagnosis or treatment because you have some CF symptoms</b> and in my opinion a very near positive sweat test number. The number 40 is just not that perfect of a cut off.

Don't be fooled just because you do not have digestive issues, a small percentage (I think 20%, but I could be wrong) of people with CF are pancreatic sufficient, so it is just not part of the disease for them.

Best wishes, and please continue to post and give us updates

edited to add: Well, on second thought, I guess using the words "highly unlikely" is actually better than "negative" so the wording they use is better than the standard "negative" "borderline" "positive" but the point I am making is the number scale cannot be used as absolutes - there are many cases of people having sweat test numbers well below 40.

 

[Alyssa]

I strongly disagree with the wording in the article that Lauren posted, where they say sweat test under 40 is "highly unlikely." The most I would say is somewhat less likely but even that I couldn't confidently say, when a person is also showing symptoms of CF.

<b>The truth is MANY people who have CF, have sweat test numbers in the 20's and 30's. </b>

My daughter has been testing out at 38 since she was 5 years old, we now know she has two CF mutations because of genetic testing. My son test out at 41 and also has both mutations. There are many other people on this site who test out even lower than my kids - if you want to hear from them try searching the subject or better yet start a new post in the adult section and the family section asking people to respond if they have sweat test numbers under 40.

My daughter was clearly misdiagnosed and we were mislead for 8 years because the doctors relied on sweat test numbers only. <b>It is especially important that you continue to pursue possible CF diagnosis or treatment because you have some CF symptoms</b> and in my opinion a very near positive sweat test number. The number 40 is just not that perfect of a cut off.

Don't be fooled just because you do not have digestive issues, a small percentage (I think 20%, but I could be wrong) of people with CF are pancreatic sufficient, so it is just not part of the disease for them.

Best wishes, and please continue to post and give us updates

edited to add: Well, on second thought, I guess using the words "highly unlikely" is actually better than "negative" so the wording they use is better than the standard "negative" "borderline" "positive" but the point I am making is the number scale cannot be used as absolutes - there are many cases of people having sweat test numbers well below 40.