I'm having difficulties pursuing a diagnosis for CF or any diagnosis in general and was hoping to get some input.<br><br>I'm 21 and have had a lot of stomach problems over the last year, came out pancreas insufficient which im now on creon for and also had some low lung capacity readings as well. <br> <br>When I got a sweat test I came out borderline at 52 which prompted the docter do a DNA screening for CF, after waiting several months it came back saying they found one mutation but only the one. I know they screened for something like the 10 most common mutations first then put me through a second screen which tested for another 30 of the rarer mutations. <br><br>Is this enough to rule out CF completely? Im not sure if I should continue going down this road and looking for a CF diagnosis but doctors cant explain any of the underlying causes for my symptoms and it seems the closest fit. Would it be worth doing a second sweat test perhaps?<br><br>Any input would be appreciated.<br>Cheers.<br>
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Difficulty with diagnosis
- Thread starter Axel
- Start date
I'm having difficulties pursuing a diagnosis for CF or any diagnosis in general and was hoping to get some input.<br><br>I'm 21 and have had a lot of stomach problems over the last year, came out pancreas insufficient which im now on creon for and also had some low lung capacity readings as well. <br><br>When I got a sweat test I came out borderline at 52 which prompted the docter do a DNA screening for CF, after waiting several months it came back saying they found one mutation but only the one. I know they screened for something like the 10 most common mutations first then put me through a second screen which tested for another 30 of the rarer mutations. <br><br>Is this enough to rule out CF completely? Im not sure if I should continue going down this road and looking for a CF diagnosis but doctors cant explain any of the underlying causes for my symptoms and it seems the closest fit. Would it be worth doing a second sweat test perhaps?<br><br>Any input would be appreciated.<br>Cheers.<br>
I'm having difficulties pursuing a diagnosis for CF or any diagnosis in general and was hoping to get some input.<br><br>I'm 21 and have had a lot of stomach problems over the last year, came out pancreas insufficient which im now on creon for and also had some low lung capacity readings as well. <br><br>When I got a sweat test I came out borderline at 52 which prompted the docter do a DNA screening for CF, after waiting several months it came back saying they found one mutation but only the one. I know they screened for something like the 10 most common mutations first then put me through a second screen which tested for another 30 of the rarer mutations. <br><br>Is this enough to rule out CF completely? Im not sure if I should continue going down this road and looking for a CF diagnosis but doctors cant explain any of the underlying causes for my symptoms and it seems the closest fit. Would it be worth doing a second sweat test perhaps?<br><br>Any input would be appreciated.<br>Cheers.<br>
At the time I was dx, they only tested for 250 mutations, so I only tested positive for one. Recently I had a FULL CF GENE SEQUENCE, this turned up the second gene. By whay you have said, I would believe that you are not being seen at a CF CENTER. Run don't walk to your nearest CF Center and get a FULL CF GENE SEQUENCE done. Given that there are almost 1600 known mutations, your Doctor tested you for less than 2%. I don't want to scare you but the non CF Doctor knows very little about CF. Bill
At the time I was dx, they only tested for 250 mutations, so I only tested positive for one. Recently I had a FULL CF GENE SEQUENCE, this turned up the second gene. By whay you have said, I would believe that you are not being seen at a CF CENTER. Run don't walk to your nearest CF Center and get a FULL CF GENE SEQUENCE done. Given that there are almost 1600 known mutations, your Doctor tested you for less than 2%. I don't want to scare you but the non CF Doctor knows very little about CF. Bill
At the time I was dx, they only tested for 250 mutations, so I only tested positive for one. Recently I had a FULL CF GENE SEQUENCE, this turned up the second gene. <BR><BR>By whay you have said, I would believe that you are not being seen at a CF CENTER. Run don't walk to your nearest CF Center and get a FULL CF GENE SEQUENCE done. Given that there are almost 1600 known mutations, your Doctor tested you for less than 2%. I don't want to scare you but the non CF Doctor knows very little about CF. <BR><BR>Bill
<div>Get the Ambry test done... it tests for all known mutations, deletions, etc. They'll even help you determine if your insurance will pay for the test.</div><div><br></div><a href="http://www.ambrygen.com/Cystic-Fibrosis.html">http://www.ambrygen.com/Cystic-Fibrosis.html</a><div><br></div><div>Also, if you go to the Newly Diagnosed section here, you'll see there is a representative from Ambry on the site for consultation.</div><div><br></div><div>Good luck!</div><div>Kris</div>
Get the Ambry test done... it tests for all known mutations, deletions, etc. They'll even help you determine if your insurance will pay for the test.<br><a href="http://www.ambrygen.com/Cystic-Fibrosis.html">http://www.ambrygen.com/Cystic-Fibrosis.html</a><br>Also, if you go to the Newly Diagnosed section here, you'll see there is a representative from Ambry on the site for consultation.<br>Good luck!Kris
Get the Ambry test done... it tests for all known mutations, deletions, etc. They'll even help you determine if your insurance will pay for the test.<br><a href="http://www.ambrygen.com/Cystic-Fibrosis.html">http://www.ambrygen.com/Cystic-Fibrosis.html</a><br>Also, if you go to the Newly Diagnosed section here, you'll see there is a representative from Ambry on the site for consultation.<br>Good luck!Kris
S
stephen
Guest
<P>From what you have written, I would say you need a new doctor! My first genetic screening at National Jewish in Denver, covered about 100 of the most common mutations. When this revealed one mutation, they proceeded to do the expanded screening without even notifying me. A second mutation was then found. I was 63 years old at the time and had had multiple sweat tests over the years that were all negative. Go somewhere where you can get the full screening. If this does result in a diagnosis of CF, it will probably result in some positive changes. The durgs and treatments that became available to me once the diagnosis of CF was made have changed my life profoundly! Wishing you all the best.</P>
<P>Stephen, 69 years old with CF</P>
<P>Stephen, 69 years old with CF</P>
S
stephen
Guest
<P>From what you have written, I would say you need a new doctor! My first genetic screening at National Jewish in Denver, covered about 100 of the most common mutations. When this revealed one mutation, they proceeded to do the expanded screening without even notifying me. A second mutation was then found. I was 63 years old at the time and had had multiple sweat tests over the years that were all negative. Go somewhere where you can get the full screening. If this does result in a diagnosis of CF, it will probably result in some positive changes. The durgs and treatments that became available to me once the diagnosis of CF was made have changed my life profoundly! Wishing you all the best.</P>
<P>Stephen, 69 years old with CF</P>
<P>Stephen, 69 years old with CF</P>
S
stephen
Guest
<P>From what you have written, I would say you need a new doctor! My first genetic screening at National Jewish in Denver, covered about 100 of the most common mutations. When this revealed one mutation, they proceeded to do the expanded screening without even notifying me. A second mutation was then found. <BR><BR>I was 63 years old at the time and had had multiple sweat tests over the years that were all negative. <BR><BR>Go somewhere where you can get the full screening. If this does result in a diagnosis of CF, it will probably result in some positive changes. The durgs and treatments that became available to me once the diagnosis of CF was made have changed my life profoundly! <BR><BR>Wishing you all the best.</P>
<P>Stephen, 69 years old with CF</P>
<P>Stephen, 69 years old with CF</P>
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.
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.