Hi! I'm new here and already respect and admire you CF parents! Blessings to you all. We've been working on a diagnosis for three years now for our 7 year old daughter. She's had odd, foamy, loose and floating stool for 5 years now, and 3 years ago she had some GI bleeding episodes, she's gone through 3 colonoscopies, had several significant findings on biopsies during these procedures but none of them led to a diagnosis. Her sweat tests were in the mid 30's the first time, and then dropped way down to 20. Is it possible for a sweat test to vary by that much??? She's had one positive fecal fat test indicating fat malabsorption, and then one just came back last week negative. We are waiting on a pancreatic elastase test. I am planning on asking for genetic testing. Almost every stool of hers floats. Does anyone know if the pancreatic elastase test can vary from negative to positive or vice versa depending on whether the child is symptomatic at the time? Anyway, I wish you all the best!
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Riding the diagnosis rollercoaster - any advice?
- Thread starter jmom
- Start date
Hi! I'm new here and already respect and admire you CF parents! Blessings to you all. We've been working on a diagnosis for three years now for our 7 year old daughter. She's had odd, foamy, loose and floating stool for 5 years now, and 3 years ago she had some GI bleeding episodes, she's gone through 3 colonoscopies, had several significant findings on biopsies during these procedures but none of them led to a diagnosis. Her sweat tests were in the mid 30's the first time, and then dropped way down to 20. Is it possible for a sweat test to vary by that much??? She's had one positive fecal fat test indicating fat malabsorption, and then one just came back last week negative. We are waiting on a pancreatic elastase test. I am planning on asking for genetic testing. Almost every stool of hers floats. Does anyone know if the pancreatic elastase test can vary from negative to positive or vice versa depending on whether the child is symptomatic at the time? Anyway, I wish you all the best!
Hi! I'm new here and already respect and admire you CF parents! Blessings to you all. We've been working on a diagnosis for three years now for our 7 year old daughter. She's had odd, foamy, loose and floating stool for 5 years now, and 3 years ago she had some GI bleeding episodes, she's gone through 3 colonoscopies, had several significant findings on biopsies during these procedures but none of them led to a diagnosis. Her sweat tests were in the mid 30's the first time, and then dropped way down to 20. Is it possible for a sweat test to vary by that much??? She's had one positive fecal fat test indicating fat malabsorption, and then one just came back last week negative. We are waiting on a pancreatic elastase test. I am planning on asking for genetic testing. Almost every stool of hers floats. Does anyone know if the pancreatic elastase test can vary from negative to positive or vice versa depending on whether the child is symptomatic at the time? Anyway, I wish you all the best!
With all of those symptoms, they should just order the genetic test. The Ambry full panel test. It's rediculous to do test after test when one will certainly give you answers. It takes a few weeks to run the dna, so why not have that going, and then continue on with the other tests, because they are important too.
I'm sorry you are on this rollercoaster. We've all been there, and it's not a fun ride.
Stacey
I'm sorry you are on this rollercoaster. We've all been there, and it's not a fun ride.
Stacey
With all of those symptoms, they should just order the genetic test. The Ambry full panel test. It's rediculous to do test after test when one will certainly give you answers. It takes a few weeks to run the dna, so why not have that going, and then continue on with the other tests, because they are important too.
I'm sorry you are on this rollercoaster. We've all been there, and it's not a fun ride.
Stacey
I'm sorry you are on this rollercoaster. We've all been there, and it's not a fun ride.
Stacey
With all of those symptoms, they should just order the genetic test. The Ambry full panel test. It's rediculous to do test after test when one will certainly give you answers. It takes a few weeks to run the dna, so why not have that going, and then continue on with the other tests, because they are important too.
<br />
<br />I'm sorry you are on this rollercoaster. We've all been there, and it's not a fun ride.
<br />
<br />Stacey
<br />
<br />I'm sorry you are on this rollercoaster. We've all been there, and it's not a fun ride.
<br />
<br />Stacey
I agree- get the genetic test. There are two types of testing, cf panel tests and genetic sequencing. You do not want a panel test, since they only look for a small number of preselected mutations (30-100ish.) You want genetic sequencing, which examines the gene for as many mutations as possible, not just certain ones (more than 1500 have been identified to date by genetic sequencing.) Ask specifically for Ambry's 'CF Amplified w/ Deletions and Duplications' which is the most comprehensive test out there. The blood can be drawn anywhere and then the kit will be sent straight to Ambry's lab out in CA.
A fecal fat test can vary based on the fat content of the diet and other factors. A 72hr collection accompanied by food log boosts odds of accuracy. Fecal elastase test is more cf-specific and shouldn't vary as much. In any case, her stools do seem to indicate malabsorption. How is her weight gain and overall growth?
Were her sweat tests performed at an accredited lab? (i.e. a lab affiliated with a cf center- usually located at a children's hospital.) Results are much less likely to be accurate at places like your local quest lab, where they don't do many and/or haven't been taught the proper technique for performing and interpreting the test.
I hope you are able to get answers soon!! The search for answers is no fun. <img src="i/expressions/face-icon-small-sad.gif" border="0">
A fecal fat test can vary based on the fat content of the diet and other factors. A 72hr collection accompanied by food log boosts odds of accuracy. Fecal elastase test is more cf-specific and shouldn't vary as much. In any case, her stools do seem to indicate malabsorption. How is her weight gain and overall growth?
Were her sweat tests performed at an accredited lab? (i.e. a lab affiliated with a cf center- usually located at a children's hospital.) Results are much less likely to be accurate at places like your local quest lab, where they don't do many and/or haven't been taught the proper technique for performing and interpreting the test.
I hope you are able to get answers soon!! The search for answers is no fun. <img src="i/expressions/face-icon-small-sad.gif" border="0">
I agree- get the genetic test. There are two types of testing, cf panel tests and genetic sequencing. You do not want a panel test, since they only look for a small number of preselected mutations (30-100ish.) You want genetic sequencing, which examines the gene for as many mutations as possible, not just certain ones (more than 1500 have been identified to date by genetic sequencing.) Ask specifically for Ambry's 'CF Amplified w/ Deletions and Duplications' which is the most comprehensive test out there. The blood can be drawn anywhere and then the kit will be sent straight to Ambry's lab out in CA.
A fecal fat test can vary based on the fat content of the diet and other factors. A 72hr collection accompanied by food log boosts odds of accuracy. Fecal elastase test is more cf-specific and shouldn't vary as much. In any case, her stools do seem to indicate malabsorption. How is her weight gain and overall growth?
Were her sweat tests performed at an accredited lab? (i.e. a lab affiliated with a cf center- usually located at a children's hospital.) Results are much less likely to be accurate at places like your local quest lab, where they don't do many and/or haven't been taught the proper technique for performing and interpreting the test.
I hope you are able to get answers soon!! The search for answers is no fun. <img src="i/expressions/face-icon-small-sad.gif" border="0">
A fecal fat test can vary based on the fat content of the diet and other factors. A 72hr collection accompanied by food log boosts odds of accuracy. Fecal elastase test is more cf-specific and shouldn't vary as much. In any case, her stools do seem to indicate malabsorption. How is her weight gain and overall growth?
Were her sweat tests performed at an accredited lab? (i.e. a lab affiliated with a cf center- usually located at a children's hospital.) Results are much less likely to be accurate at places like your local quest lab, where they don't do many and/or haven't been taught the proper technique for performing and interpreting the test.
I hope you are able to get answers soon!! The search for answers is no fun. <img src="i/expressions/face-icon-small-sad.gif" border="0">
I agree- get the genetic test. There are two types of testing, cf panel tests and genetic sequencing. You do not want a panel test, since they only look for a small number of preselected mutations (30-100ish.) You want genetic sequencing, which examines the gene for as many mutations as possible, not just certain ones (more than 1500 have been identified to date by genetic sequencing.) Ask specifically for Ambry's 'CF Amplified w/ Deletions and Duplications' which is the most comprehensive test out there. The blood can be drawn anywhere and then the kit will be sent straight to Ambry's lab out in CA.
<br />
<br />A fecal fat test can vary based on the fat content of the diet and other factors. A 72hr collection accompanied by food log boosts odds of accuracy. Fecal elastase test is more cf-specific and shouldn't vary as much. In any case, her stools do seem to indicate malabsorption. How is her weight gain and overall growth?
<br />
<br />Were her sweat tests performed at an accredited lab? (i.e. a lab affiliated with a cf center- usually located at a children's hospital.) Results are much less likely to be accurate at places like your local quest lab, where they don't do many and/or haven't been taught the proper technique for performing and interpreting the test.
<br />
<br />I hope you are able to get answers soon!! The search for answers is no fun. <img src="i/expressions/face-icon-small-sad.gif" border="0">
<br />
<br />
<br />
<br />A fecal fat test can vary based on the fat content of the diet and other factors. A 72hr collection accompanied by food log boosts odds of accuracy. Fecal elastase test is more cf-specific and shouldn't vary as much. In any case, her stools do seem to indicate malabsorption. How is her weight gain and overall growth?
<br />
<br />Were her sweat tests performed at an accredited lab? (i.e. a lab affiliated with a cf center- usually located at a children's hospital.) Results are much less likely to be accurate at places like your local quest lab, where they don't do many and/or haven't been taught the proper technique for performing and interpreting the test.
<br />
<br />I hope you are able to get answers soon!! The search for answers is no fun. <img src="i/expressions/face-icon-small-sad.gif" border="0">
<br />
<br />
Stacey and Harriet - Thanks so much for your thoughts. I'm sure you have been a big help to a lot of moms in the past. As you know, it just helps to chat with someone who understands. I will ask for the full Ambry genetic testing. The sweat tests were done at an accredited hospital. You're right about the fecal fat test...it wss not the sophisticated 72 hour test; just the spot-check test. We're trying to figure out why my daughter has fat malabsorption, and if it's not CF, does anybody know what other conditions can cause fat malabsorption? Can it just exist for no other rhyme or reason? We've ruled out Celiac's. Again, thanks for writing back.
Stacey and Harriet - Thanks so much for your thoughts. I'm sure you have been a big help to a lot of moms in the past. As you know, it just helps to chat with someone who understands. I will ask for the full Ambry genetic testing. The sweat tests were done at an accredited hospital. You're right about the fecal fat test...it wss not the sophisticated 72 hour test; just the spot-check test. We're trying to figure out why my daughter has fat malabsorption, and if it's not CF, does anybody know what other conditions can cause fat malabsorption? Can it just exist for no other rhyme or reason? We've ruled out Celiac's. Again, thanks for writing back.
Stacey and Harriet - Thanks so much for your thoughts. I'm sure you have been a big help to a lot of moms in the past. As you know, it just helps to chat with someone who understands. I will ask for the full Ambry genetic testing. The sweat tests were done at an accredited hospital. You're right about the fecal fat test...it wss not the sophisticated 72 hour test; just the spot-check test. We're trying to figure out why my daughter has fat malabsorption, and if it's not CF, does anybody know what other conditions can cause fat malabsorption? Can it just exist for no other rhyme or reason? We've ruled out Celiac's. Again, thanks for writing back.