That ambry genetic test looks interesting, will have to look into that as the next step I think. I don't know if there is a CF center in my home town, I live in Australia and had to send my blood to another city on the east to get it tested. Its annoying because the doc is just saying its probably not CF without offering any alternative explanation. The creon sure helps with a lot but it would be good to know what is causing all this. Will keep you guys posted on what happens next. All the best.
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Difficulty with diagnosis
- Thread starter Axel
- Start date
Wow....I can't believe that your doc has ruled out CF with your symptoms! I have sweat tests like yours, in the low 50's, am mildly PI. My doc sent my blood for full sequencing, it turned out one mutation and a variant (from what I understand). I am diagnosed as CF (atypical, but treated like any other CF'er). I was a late diagnosis at 33....so you see, your doctor should not have completely written CF off just because only one mutation showed up. You need to get the full sequencing done for 1600 mutations. My variant would never have been picked up on the traditional 30 mutation panel. Even if you get the whole sequencing done and it doesn't turn up the second mutation, your symptoms are still very suspicious...I know people who have been diagnosed with CF with borderline sweats, and have one mutation show up....but because of their symptoms, their doctors opt to treat them like CF patients. Each case is individual....you need to go to an accredited facility or at least to a pulmonologist who has had training in CF. A second opinion never hurts, especially in this case.
Good luck, I hope you get answers...
Jenn
Good luck, I hope you get answers...
Jenn
Wow....I can't believe that your doc has ruled out CF with your symptoms! I have sweat tests like yours, in the low 50's, am mildly PI. My doc sent my blood for full sequencing, it turned out one mutation and a variant (from what I understand). I am diagnosed as CF (atypical, but treated like any other CF'er). I was a late diagnosis at 33....so you see, your doctor should not have completely written CF off just because only one mutation showed up. You need to get the full sequencing done for 1600 mutations. My variant would never have been picked up on the traditional 30 mutation panel. Even if you get the whole sequencing done and it doesn't turn up the second mutation, your symptoms are still very suspicious...I know people who have been diagnosed with CF with borderline sweats, and have one mutation show up....but because of their symptoms, their doctors opt to treat them like CF patients. Each case is individual....you need to go to an accredited facility or at least to a pulmonologist who has had training in CF. A second opinion never hurts, especially in this case.
Good luck, I hope you get answers...
Jenn
Good luck, I hope you get answers...
Jenn
Wow....I can't believe that your doc has ruled out CF with your symptoms! I have sweat tests like yours, in the low 50's, am mildly PI. My doc sent my blood for full sequencing, it turned out one mutation and a variant (from what I understand). I am diagnosed as CF (atypical, but treated like any other CF'er). I was a late diagnosis at 33....so you see, your doctor should not have completely written CF off just because only one mutation showed up. You need to get the full sequencing done for 1600 mutations. My variant would never have been picked up on the traditional 30 mutation panel. Even if you get the whole sequencing done and it doesn't turn up the second mutation, your symptoms are still very suspicious...I know people who have been diagnosed with CF with borderline sweats, and have one mutation show up....but because of their symptoms, their doctors opt to treat them like CF patients. Each case is individual....you need to go to an accredited facility or at least to a pulmonologist who has had training in CF. A second opinion never hurts, especially in this case.
<br />Good luck, I hope you get answers...
<br />Jenn
<br />Good luck, I hope you get answers...
<br />Jenn
P
pencf
Guest
My recommendation is to run the additional testing both Sweat and extended mutations. As previously mentioned there are thousands of mutations and lab tests to find about 80 (now). I recently was at a CF Conference and there is an increasing population of "CF Like" patients. These are folks like yourself who have symptoms of CF, are prescribed CF medications, and are found to have at least one CF gene, but can not confirm with a sweat test or 2 copies of CF genes to in fact, be called>>>CF. All I can say, if being treated like a CF patient makes you feel better, then there is no harm not having a positive diagnose, until or if they come up with a tool to say for sure.<br>I know a little boy who is in exactly the same situation, and his mother takes him to CF clinic. he is seen by CF docs, he takes enzymes from digestion and he is doing very well. She looks forward to the diagnostic tools that will say for sure (someday) he does or does not have CF, but for her, she is just glad he is healthier then he was before they started treating him.<br>
P
pencf
Guest
My recommendation is to run the additional testing both Sweat and extended mutations. As previously mentioned there are thousands of mutations and lab tests to find about 80 (now). I recently was at a CF Conference and there is an increasing population of "CF Like" patients. These are folks like yourself who have symptoms of CF, are prescribed CF medications, and are found to have at least one CF gene, but can not confirm with a sweat test or 2 copies of CF genes to in fact, be called>>>CF. All I can say, if being treated like a CF patient makes you feel better, then there is no harm not having a positive diagnose, until or if they come up with a tool to say for sure.<br>I know a little boy who is in exactly the same situation, and his mother takes him to CF clinic. he is seen by CF docs, he takes enzymes from digestion and he is doing very well. She looks forward to the diagnostic tools that will say for sure (someday) he does or does not have CF, but for her, she is just glad he is healthier then he was before they started treating him.<br>
P
pencf
Guest
My recommendation is to run the additional testing both Sweat and extended mutations. As previously mentioned there are thousands of mutations and lab tests to find about 80 (now). I recently was at a CF Conference and there is an increasing population of "CF Like" patients. These are folks like yourself who have symptoms of CF, are prescribed CF medications, and are found to have at least one CF gene, but can not confirm with a sweat test or 2 copies of CF genes to in fact, be called>>>CF. All I can say, if being treated like a CF patient makes you feel better, then there is no harm not having a positive diagnose, until or if they come up with a tool to say for sure.<br>I know a little boy who is in exactly the same situation, and his mother takes him to CF clinic. he is seen by CF docs, he takes enzymes from digestion and he is doing very well. She looks forward to the diagnostic tools that will say for sure (someday) he does or does not have CF, but for her, she is just glad he is healthier then he was before they started treating him.<br>
Ok so I called up the lab and they said they sequenced the whole CFTR gene because of my sweat test result, they didn't find anything so I guess this rules out cystic fibrosis. Pretty lost as to what could be causing it all, the doc wants to check my white blood cells now because he thinks it could be blood related I dunno. Prob gonna stay away from testing for about a year or so and see what happens, its too emotionally draining to keep waiting on lab tests and hoping for results.
Ok so I called up the lab and they said they sequenced the whole CFTR gene because of my sweat test result, they didn't find anything so I guess this rules out cystic fibrosis. Pretty lost as to what could be causing it all, the doc wants to check my white blood cells now because he thinks it could be blood related I dunno. Prob gonna stay away from testing for about a year or so and see what happens, its too emotionally draining to keep waiting on lab tests and hoping for results.
Ok so I called up the lab and they said they sequenced the whole CFTR gene because of my sweat test result, they didn't find anything so I guess this rules out cystic fibrosis. Pretty lost as to what could be causing it all, the doc wants to check my white blood cells now because he thinks it could be blood related I dunno. Prob gonna stay away from testing for about a year or so and see what happens, its too emotionally draining to keep waiting on lab tests and hoping for results.
Alex:
At age 20 (1960) i had my, of many, first bleeding ulcer. At age 27 (1967) I had part of my stomach removed. At age 28 (1968) I began seven years of hospitalizations with pancreatitis.
I was dx with CF in 1987. In 2000 they found one mutation and in 2011 they found the second mutation.
As someone who has been where you are now, I would tell you to get to an approved CF CENTER AS SOON AS POSSIBLE. If you think it is emotional draning now, just wait till your health gets worse. You either have CYSTIC FIBROSIS or ATYPICAL CYSTIC FIBROSIS. Either was you need to see a CF SPECIALIST.
You need REAL CF help now.
Bill
At age 20 (1960) i had my, of many, first bleeding ulcer. At age 27 (1967) I had part of my stomach removed. At age 28 (1968) I began seven years of hospitalizations with pancreatitis.
I was dx with CF in 1987. In 2000 they found one mutation and in 2011 they found the second mutation.
As someone who has been where you are now, I would tell you to get to an approved CF CENTER AS SOON AS POSSIBLE. If you think it is emotional draning now, just wait till your health gets worse. You either have CYSTIC FIBROSIS or ATYPICAL CYSTIC FIBROSIS. Either was you need to see a CF SPECIALIST.
You need REAL CF help now.
Bill
Alex:
At age 20 (1960) i had my, of many, first bleeding ulcer. At age 27 (1967) I had part of my stomach removed. At age 28 (1968) I began seven years of hospitalizations with pancreatitis.
I was dx with CF in 1987. In 2000 they found one mutation and in 2011 they found the second mutation.
As someone who has been where you are now, I would tell you to get to an approved CF CENTER AS SOON AS POSSIBLE. If you think it is emotional draning now, just wait till your health gets worse. You either have CYSTIC FIBROSIS or ATYPICAL CYSTIC FIBROSIS. Either was you need to see a CF SPECIALIST.
You need REAL CF help now.
Bill
At age 20 (1960) i had my, of many, first bleeding ulcer. At age 27 (1967) I had part of my stomach removed. At age 28 (1968) I began seven years of hospitalizations with pancreatitis.
I was dx with CF in 1987. In 2000 they found one mutation and in 2011 they found the second mutation.
As someone who has been where you are now, I would tell you to get to an approved CF CENTER AS SOON AS POSSIBLE. If you think it is emotional draning now, just wait till your health gets worse. You either have CYSTIC FIBROSIS or ATYPICAL CYSTIC FIBROSIS. Either was you need to see a CF SPECIALIST.
You need REAL CF help now.
Bill
Alex:
<br />
<br />At age 20 (1960) i had my, of many, first bleeding ulcer. At age 27 (1967) I had part of my stomach removed. At age 28 (1968) I began seven years of hospitalizations with pancreatitis.
<br />
<br />I was dx with CF in 1987. In 2000 they found one mutation and in 2011 they found the second mutation.
<br />
<br />As someone who has been where you are now, I would tell you to get to an approved CF CENTER AS SOON AS POSSIBLE. If you think it is emotional draning now, just wait till your health gets worse. You either have CYSTIC FIBROSIS or ATYPICAL CYSTIC FIBROSIS. Either was you need to see a CF SPECIALIST.
<br />
<br />You need REAL CF help now.
<br />
<br />Bill
<br />
<br />At age 20 (1960) i had my, of many, first bleeding ulcer. At age 27 (1967) I had part of my stomach removed. At age 28 (1968) I began seven years of hospitalizations with pancreatitis.
<br />
<br />I was dx with CF in 1987. In 2000 they found one mutation and in 2011 they found the second mutation.
<br />
<br />As someone who has been where you are now, I would tell you to get to an approved CF CENTER AS SOON AS POSSIBLE. If you think it is emotional draning now, just wait till your health gets worse. You either have CYSTIC FIBROSIS or ATYPICAL CYSTIC FIBROSIS. Either was you need to see a CF SPECIALIST.
<br />
<br />You need REAL CF help now.
<br />
<br />Bill
You could be one of the few CF'ers who has an unknown mutation, at least for now even with the 1600 panel. I would definitely go to another center and see what they say. They at the very least should be treating your symptoms. It sucks to be in this grey area....Hang in there, keep pushing and go with your gut instinct.
Jenn
39 w/CF
Jenn
39 w/CF
You could be one of the few CF'ers who has an unknown mutation, at least for now even with the 1600 panel. I would definitely go to another center and see what they say. They at the very least should be treating your symptoms. It sucks to be in this grey area....Hang in there, keep pushing and go with your gut instinct.
Jenn
39 w/CF
Jenn
39 w/CF
You could be one of the few CF'ers who has an unknown mutation, at least for now even with the 1600 panel. I would definitely go to another center and see what they say. They at the very least should be treating your symptoms. It sucks to be in this grey area....Hang in there, keep pushing and go with your gut instinct.
<br />
<br />Jenn
<br />39 w/CF
<br />
<br />Jenn
<br />39 w/CF