My daughter is adopted, so the fact that she is so small (has never been on the growth charts for weight, bottom 3% on height) hasn't been of great concern for her doctor because it could just be her genetics. Overall, she's seemed pretty healthy and EXTREMELY energetic. But just before her seventh birthday her pediatrician felt we should look into her small stature (her height and weight are slipping a bit and her BMI is all over the place.) We've been to an endocronologist, then a nutritionist who was very concerned about the HUGE amount of food she eats but actually <i>loses</i> weight. We went to a gastroenterologist who did a sweat test as precautionary, but felt there was no reason to think CF. Her first sweat test was a 56 on one arm and a 44 on the other (they thought it was so weird they paged her doctor -- he said he's never been paged about a sweat test before.) The retest was a 42. Dr did a 72 hour fecal-fat test and genetic testing and sent us to a pulmonologist, again as a precaution because he doesn't think she has CF. X-rays of K's lung showed her lungs filled with mucus plugs, but Dr says it's not CF (but didn't say what she thinks it is) Fecal-fat test came back and K is now taking a ton of Creon 10 (3 with meals, 2 for snacks). This time her doctor didn't rule out CF, but... Yesterday the genetic testing came back and she has one mutation, but the test said it's not indicative of CF. So I'm wondering how K can have a borderline sweat test, pancreatic insufficiency, mucus in her lungs, and at least one mutation, but this doesn't somehow add up to CF (atypical or otherwise)? I'm not trying to borrow trouble here -- but if she has at least some form of CF, I'd like to know. Isn't pancreatic insufficiency a symptom, not a disease unto itself? I thought 90% of the time it's caused by CF, so with all of her other tests results coming back that show these things, why are doctors so reluctant to call it CF?
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I'm so confused!
- Thread starter Kkids
- Start date
My daughter is adopted, so the fact that she is so small (has never been on the growth charts for weight, bottom 3% on height) hasn't been of great concern for her doctor because it could just be her genetics. Overall, she's seemed pretty healthy and EXTREMELY energetic. But just before her seventh birthday her pediatrician felt we should look into her small stature (her height and weight are slipping a bit and her BMI is all over the place.) We've been to an endocronologist, then a nutritionist who was very concerned about the HUGE amount of food she eats but actually <i>loses</i> weight. We went to a gastroenterologist who did a sweat test as precautionary, but felt there was no reason to think CF. Her first sweat test was a 56 on one arm and a 44 on the other (they thought it was so weird they paged her doctor -- he said he's never been paged about a sweat test before.) The retest was a 42. Dr did a 72 hour fecal-fat test and genetic testing and sent us to a pulmonologist, again as a precaution because he doesn't think she has CF. X-rays of K's lung showed her lungs filled with mucus plugs, but Dr says it's not CF (but didn't say what she thinks it is) Fecal-fat test came back and K is now taking a ton of Creon 10 (3 with meals, 2 for snacks). This time her doctor didn't rule out CF, but... Yesterday the genetic testing came back and she has one mutation, but the test said it's not indicative of CF. So I'm wondering how K can have a borderline sweat test, pancreatic insufficiency, mucus in her lungs, and at least one mutation, but this doesn't somehow add up to CF (atypical or otherwise)? I'm not trying to borrow trouble here -- but if she has at least some form of CF, I'd like to know. Isn't pancreatic insufficiency a symptom, not a disease unto itself? I thought 90% of the time it's caused by CF, so with all of her other tests results coming back that show these things, why are doctors so reluctant to call it CF?
My daughter is adopted, so the fact that she is so small (has never been on the growth charts for weight, bottom 3% on height) hasn't been of great concern for her doctor because it could just be her genetics. Overall, she's seemed pretty healthy and EXTREMELY energetic. But just before her seventh birthday her pediatrician felt we should look into her small stature (her height and weight are slipping a bit and her BMI is all over the place.) We've been to an endocronologist, then a nutritionist who was very concerned about the HUGE amount of food she eats but actually <i>loses</i> weight. We went to a gastroenterologist who did a sweat test as precautionary, but felt there was no reason to think CF. Her first sweat test was a 56 on one arm and a 44 on the other (they thought it was so weird they paged her doctor -- he said he's never been paged about a sweat test before.) The retest was a 42. Dr did a 72 hour fecal-fat test and genetic testing and sent us to a pulmonologist, again as a precaution because he doesn't think she has CF. X-rays of K's lung showed her lungs filled with mucus plugs, but Dr says it's not CF (but didn't say what she thinks it is) Fecal-fat test came back and K is now taking a ton of Creon 10 (3 with meals, 2 for snacks). This time her doctor didn't rule out CF, but... Yesterday the genetic testing came back and she has one mutation, but the test said it's not indicative of CF. So I'm wondering how K can have a borderline sweat test, pancreatic insufficiency, mucus in her lungs, and at least one mutation, but this doesn't somehow add up to CF (atypical or otherwise)? I'm not trying to borrow trouble here -- but if she has at least some form of CF, I'd like to know. Isn't pancreatic insufficiency a symptom, not a disease unto itself? I thought 90% of the time it's caused by CF, so with all of her other tests results coming back that show these things, why are doctors so reluctant to call it CF?
My daughter is adopted, so the fact that she is so small (has never been on the growth charts for weight, bottom 3% on height) hasn't been of great concern for her doctor because it could just be her genetics. Overall, she's seemed pretty healthy and EXTREMELY energetic. But just before her seventh birthday her pediatrician felt we should look into her small stature (her height and weight are slipping a bit and her BMI is all over the place.) We've been to an endocronologist, then a nutritionist who was very concerned about the HUGE amount of food she eats but actually <i>loses</i> weight. We went to a gastroenterologist who did a sweat test as precautionary, but felt there was no reason to think CF. Her first sweat test was a 56 on one arm and a 44 on the other (they thought it was so weird they paged her doctor -- he said he's never been paged about a sweat test before.) The retest was a 42. Dr did a 72 hour fecal-fat test and genetic testing and sent us to a pulmonologist, again as a precaution because he doesn't think she has CF. X-rays of K's lung showed her lungs filled with mucus plugs, but Dr says it's not CF (but didn't say what she thinks it is) Fecal-fat test came back and K is now taking a ton of Creon 10 (3 with meals, 2 for snacks). This time her doctor didn't rule out CF, but... Yesterday the genetic testing came back and she has one mutation, but the test said it's not indicative of CF. So I'm wondering how K can have a borderline sweat test, pancreatic insufficiency, mucus in her lungs, and at least one mutation, but this doesn't somehow add up to CF (atypical or otherwise)? I'm not trying to borrow trouble here -- but if she has at least some form of CF, I'd like to know. Isn't pancreatic insufficiency a symptom, not a disease unto itself? I thought 90% of the time it's caused by CF, so with all of her other tests results coming back that show these things, why are doctors so reluctant to call it CF?
My daughter is adopted, so the fact that she is so small (has never been on the growth charts for weight, bottom 3% on height) hasn't been of great concern for her doctor because it could just be her genetics. Overall, she's seemed pretty healthy and EXTREMELY energetic. But just before her seventh birthday her pediatrician felt we should look into her small stature (her height and weight are slipping a bit and her BMI is all over the place.) We've been to an endocronologist, then a nutritionist who was very concerned about the HUGE amount of food she eats but actually <i>loses</i> weight. We went to a gastroenterologist who did a sweat test as precautionary, but felt there was no reason to think CF. Her first sweat test was a 56 on one arm and a 44 on the other (they thought it was so weird they paged her doctor -- he said he's never been paged about a sweat test before.) The retest was a 42. Dr did a 72 hour fecal-fat test and genetic testing and sent us to a pulmonologist, again as a precaution because he doesn't think she has CF. X-rays of K's lung showed her lungs filled with mucus plugs, but Dr says it's not CF (but didn't say what she thinks it is) Fecal-fat test came back and K is now taking a ton of Creon 10 (3 with meals, 2 for snacks). This time her doctor didn't rule out CF, but... Yesterday the genetic testing came back and she has one mutation, but the test said it's not indicative of CF. So I'm wondering how K can have a borderline sweat test, pancreatic insufficiency, mucus in her lungs, and at least one mutation, but this doesn't somehow add up to CF (atypical or otherwise)? I'm not trying to borrow trouble here -- but if she has at least some form of CF, I'd like to know. Isn't pancreatic insufficiency a symptom, not a disease unto itself? I thought 90% of the time it's caused by CF, so with all of her other tests results coming back that show these things, why are doctors so reluctant to call it CF?
The sweat test results & the little bit of her symptoms you speak of definitely indicate genetic testing should have been done.
The ??? really is how extensive was the test. A basic panel covers like 36 (I am not 100% on that #) of the most common gene mutations, but there are over 1500 known ones to test for.
Before any further wondering is done....you need to find out EXACTLY which panel of genetic testing was done & if it wasnt the FULL panel push for it. Often insurance companies want to rule things out one step at a time & will only pay for the most basic first etc.
BTW I wouldnt call it trying to borrow trouble as much as get an accurate diagnosis so your child can get the completely appropriate treatment.
Let us know.....
The ??? really is how extensive was the test. A basic panel covers like 36 (I am not 100% on that #) of the most common gene mutations, but there are over 1500 known ones to test for.
Before any further wondering is done....you need to find out EXACTLY which panel of genetic testing was done & if it wasnt the FULL panel push for it. Often insurance companies want to rule things out one step at a time & will only pay for the most basic first etc.
BTW I wouldnt call it trying to borrow trouble as much as get an accurate diagnosis so your child can get the completely appropriate treatment.
Let us know.....
The sweat test results & the little bit of her symptoms you speak of definitely indicate genetic testing should have been done.
The ??? really is how extensive was the test. A basic panel covers like 36 (I am not 100% on that #) of the most common gene mutations, but there are over 1500 known ones to test for.
Before any further wondering is done....you need to find out EXACTLY which panel of genetic testing was done & if it wasnt the FULL panel push for it. Often insurance companies want to rule things out one step at a time & will only pay for the most basic first etc.
BTW I wouldnt call it trying to borrow trouble as much as get an accurate diagnosis so your child can get the completely appropriate treatment.
Let us know.....
The ??? really is how extensive was the test. A basic panel covers like 36 (I am not 100% on that #) of the most common gene mutations, but there are over 1500 known ones to test for.
Before any further wondering is done....you need to find out EXACTLY which panel of genetic testing was done & if it wasnt the FULL panel push for it. Often insurance companies want to rule things out one step at a time & will only pay for the most basic first etc.
BTW I wouldnt call it trying to borrow trouble as much as get an accurate diagnosis so your child can get the completely appropriate treatment.
Let us know.....
The sweat test results & the little bit of her symptoms you speak of definitely indicate genetic testing should have been done.
The ??? really is how extensive was the test. A basic panel covers like 36 (I am not 100% on that #) of the most common gene mutations, but there are over 1500 known ones to test for.
Before any further wondering is done....you need to find out EXACTLY which panel of genetic testing was done & if it wasnt the FULL panel push for it. Often insurance companies want to rule things out one step at a time & will only pay for the most basic first etc.
BTW I wouldnt call it trying to borrow trouble as much as get an accurate diagnosis so your child can get the completely appropriate treatment.
Let us know.....
The ??? really is how extensive was the test. A basic panel covers like 36 (I am not 100% on that #) of the most common gene mutations, but there are over 1500 known ones to test for.
Before any further wondering is done....you need to find out EXACTLY which panel of genetic testing was done & if it wasnt the FULL panel push for it. Often insurance companies want to rule things out one step at a time & will only pay for the most basic first etc.
BTW I wouldnt call it trying to borrow trouble as much as get an accurate diagnosis so your child can get the completely appropriate treatment.
Let us know.....
The sweat test results & the little bit of her symptoms you speak of definitely indicate genetic testing should have been done.
The ??? really is how extensive was the test. A basic panel covers like 36 (I am not 100% on that #) of the most common gene mutations, but there are over 1500 known ones to test for.
Before any further wondering is done....you need to find out EXACTLY which panel of genetic testing was done & if it wasnt the FULL panel push for it. Often insurance companies want to rule things out one step at a time & will only pay for the most basic first etc.
BTW I wouldnt call it trying to borrow trouble as much as get an accurate diagnosis so your child can get the completely appropriate treatment.
Let us know.....
The ??? really is how extensive was the test. A basic panel covers like 36 (I am not 100% on that #) of the most common gene mutations, but there are over 1500 known ones to test for.
Before any further wondering is done....you need to find out EXACTLY which panel of genetic testing was done & if it wasnt the FULL panel push for it. Often insurance companies want to rule things out one step at a time & will only pay for the most basic first etc.
BTW I wouldnt call it trying to borrow trouble as much as get an accurate diagnosis so your child can get the completely appropriate treatment.
Let us know.....
The sweat test results & the little bit of her symptoms you speak of definitely indicate genetic testing should have been done.
<br />
<br />The ??? really is how extensive was the test. A basic panel covers like 36 (I am not 100% on that #) of the most common gene mutations, but there are over 1500 known ones to test for.
<br />
<br />Before any further wondering is done....you need to find out EXACTLY which panel of genetic testing was done & if it wasnt the FULL panel push for it. Often insurance companies want to rule things out one step at a time & will only pay for the most basic first etc.
<br />
<br />BTW I wouldnt call it trying to borrow trouble as much as get an accurate diagnosis so your child can get the completely appropriate treatment.
<br />
<br />Let us know.....
<br />
<br />The ??? really is how extensive was the test. A basic panel covers like 36 (I am not 100% on that #) of the most common gene mutations, but there are over 1500 known ones to test for.
<br />
<br />Before any further wondering is done....you need to find out EXACTLY which panel of genetic testing was done & if it wasnt the FULL panel push for it. Often insurance companies want to rule things out one step at a time & will only pay for the most basic first etc.
<br />
<br />BTW I wouldnt call it trying to borrow trouble as much as get an accurate diagnosis so your child can get the completely appropriate treatment.
<br />
<br />Let us know.....
saveferris2009
New member
Mel has a great point.
FYI - it's really difficult to read big chunks of text. Splitting text up in paragraphs will help us read your posts much easier <img src="i/expressions/face-icon-small-smile.gif" border="0">
Best of luck to you and your family!
FYI - it's really difficult to read big chunks of text. Splitting text up in paragraphs will help us read your posts much easier <img src="i/expressions/face-icon-small-smile.gif" border="0">
Best of luck to you and your family!
saveferris2009
New member
Mel has a great point.
FYI - it's really difficult to read big chunks of text. Splitting text up in paragraphs will help us read your posts much easier <img src="i/expressions/face-icon-small-smile.gif" border="0">
Best of luck to you and your family!
FYI - it's really difficult to read big chunks of text. Splitting text up in paragraphs will help us read your posts much easier <img src="i/expressions/face-icon-small-smile.gif" border="0">
Best of luck to you and your family!
saveferris2009
New member
Mel has a great point.
FYI - it's really difficult to read big chunks of text. Splitting text up in paragraphs will help us read your posts much easier <img src="i/expressions/face-icon-small-smile.gif" border="0">
Best of luck to you and your family!
FYI - it's really difficult to read big chunks of text. Splitting text up in paragraphs will help us read your posts much easier <img src="i/expressions/face-icon-small-smile.gif" border="0">
Best of luck to you and your family!
saveferris2009
New member
Mel has a great point.
FYI - it's really difficult to read big chunks of text. Splitting text up in paragraphs will help us read your posts much easier <img src="i/expressions/face-icon-small-smile.gif" border="0">
Best of luck to you and your family!
FYI - it's really difficult to read big chunks of text. Splitting text up in paragraphs will help us read your posts much easier <img src="i/expressions/face-icon-small-smile.gif" border="0">
Best of luck to you and your family!
saveferris2009
New member
Mel has a great point.
<br />
<br />FYI - it's really difficult to read big chunks of text. Splitting text up in paragraphs will help us read your posts much easier <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />Best of luck to you and your family!
<br />
<br />FYI - it's really difficult to read big chunks of text. Splitting text up in paragraphs will help us read your posts much easier <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />Best of luck to you and your family!