Here is my story

[antonette1279]

Ok guys I need some advice! I am so frustrated I don't know what to do anymore. I have a five month old baby boy. He has been sick since he was literally 2 weeks old. No one knows what is wrong with my little guy. Now his pediatrician thinks he has a rare mutation of CF. Sweat test was normal for the state of PA. I am unsure of the actual numbers...however the genetic testing that they did came back "can not rule out CF" They repeated it and it is the same results. He is not gaining much weight at all...considered to be failure to thrive...he eats like a pig!! The little guy doesn't sleep much and is fussy quite often. He has been hospitalized FOUR times for lung issues. They have ruled out celiac disease as well as a million allergies and other testing. Now they want to do a lung biopsy and I am scared to death for them to put this little one through this....I have heard many stories of people finding out their kids have CF after recieving the same tests results that we have got. Does ANYONE know how likely it is for my son to have CF if his sweat test was within normal range for PA? Any advice or help would be great...thanks

 

[antonette1279]

Ok guys I need some advice! I am so frustrated I don't know what to do anymore. I have a five month old baby boy. He has been sick since he was literally 2 weeks old. No one knows what is wrong with my little guy. Now his pediatrician thinks he has a rare mutation of CF. Sweat test was normal for the state of PA. I am unsure of the actual numbers...however the genetic testing that they did came back "can not rule out CF" They repeated it and it is the same results. He is not gaining much weight at all...considered to be failure to thrive...he eats like a pig!! The little guy doesn't sleep much and is fussy quite often. He has been hospitalized FOUR times for lung issues. They have ruled out celiac disease as well as a million allergies and other testing. Now they want to do a lung biopsy and I am scared to death for them to put this little one through this....I have heard many stories of people finding out their kids have CF after recieving the same tests results that we have got. Does ANYONE know how likely it is for my son to have CF if his sweat test was within normal range for PA? Any advice or help would be great...thanks

 

[antonette1279]

Ok guys I need some advice! I am so frustrated I don't know what to do anymore. I have a five month old baby boy. He has been sick since he was literally 2 weeks old. No one knows what is wrong with my little guy. Now his pediatrician thinks he has a rare mutation of CF. Sweat test was normal for the state of PA. I am unsure of the actual numbers...however the genetic testing that they did came back "can not rule out CF" They repeated it and it is the same results. He is not gaining much weight at all...considered to be failure to thrive...he eats like a pig!! The little guy doesn't sleep much and is fussy quite often. He has been hospitalized FOUR times for lung issues. They have ruled out celiac disease as well as a million allergies and other testing. Now they want to do a lung biopsy and I am scared to death for them to put this little one through this....I have heard many stories of people finding out their kids have CF after recieving the same tests results that we have got. Does ANYONE know how likely it is for my son to have CF if his sweat test was within normal range for PA? Any advice or help would be great...thanks

 

[hmw]

Some thoughts...

1. Sweat test within normal range for PA: ask for a copy of the lab report. You are entitled to this.

2. Genetic testing: I know the first time he had a panel test for 100ish mutations, based on an earlier post of yours. What exactly was the result of that test, other than it couldn't rule out cf (or whatever) ...did they deem him a carrier? Or did they find nothing? I would get a copy of the report. And then what kind of test did he have the 2nd time? If it was not the <b>Ambry Amplified, including deletions and duplications</b>, this is what he needs. It is the most comprehensive genetic test available.

3. Has he had a repeat sweat test? At 5mo it may be more accurate than it was during the newborn stage, although with babies it can still be dicey and many people are eventiually dx'ed with cf that have sweat tests lower than 60 (the official 'positive' result.) I would ask for a repeat. And again, ask for a copy of the actual report and the NUMBER of the result, not just normal/negative, etc.

4. edited: since I saw they ruled out celiac disease. <img src="i/expressions/face-icon-small-smile.gif" border="0"> they had to rule this out for my daughter too during our diagnostic wild good chase...

5. If he has only been seen by one team/cf center/hospital.... find another. A fresh set of eyes might make a great deal of difference. Your little one has been through a LOT and needs answers!!

6. Has he had any stool testing for pancreatic insufficiency? They can do a fecal fat test as well as a fecal elastase test. Fecal fat will look for fat malabsorption, which is commonly seen with cf (but not exclusively with cf) and the elastase test is used to gauge pancreatic function. This can help a great deal... and he can be started on pancreatic enzymes even without an official cf dx if shown to be pancreatic insufficient. If he responds to enzymes this can dramatically help with growth, stools, and improve overall health. It won't solve everything (you still would need to find the overarching diagnosis and help the respiratory conditions) but it is a piece of the puzzle, at least.

7. Has reflux been considered? The fussiness and not sleeping well makes me think of this. It's commonly seen with cf, with pancreatic insufficiency, and if it's severe enough, it can contribute to respiratory problems.

8. What kind of treatment is being done for his respiratory problems, even without a solid dx? Is he getting nebulizer treatments? Given the constant lung infections, I would learn chest PT to help keep his lungs clear. Even if he does not have cf, he will benefit from this from the sounds of it.

Sorry to be all over the place with so many questions... trying to address as many of your concerns as possible and figured a list was the most concise way to do it... I am so sorry you are facing so much and can understand your fear and concern for your little one. <img src="i/expressions/face-icon-small-sad.gif" border="0"> We were on a wild goose chase for a couple years with our daughter and it was very difficult and frustrating until she was dx'ed. However, it wasn't frightening like this during that vulnerable baby stage, and that must make it more difficult.

I hope you get answers soon. I know it's exhausting and frustrating, but don't give up. You are your baby's best advocate, the one who knows him best. We are here to help you as much as we can. <img src="i/expressions/rose.gif" border="0">

 

[hmw]

Some thoughts...

1. Sweat test within normal range for PA: ask for a copy of the lab report. You are entitled to this.

2. Genetic testing: I know the first time he had a panel test for 100ish mutations, based on an earlier post of yours. What exactly was the result of that test, other than it couldn't rule out cf (or whatever) ...did they deem him a carrier? Or did they find nothing? I would get a copy of the report. And then what kind of test did he have the 2nd time? If it was not the <b>Ambry Amplified, including deletions and duplications</b>, this is what he needs. It is the most comprehensive genetic test available.

3. Has he had a repeat sweat test? At 5mo it may be more accurate than it was during the newborn stage, although with babies it can still be dicey and many people are eventiually dx'ed with cf that have sweat tests lower than 60 (the official 'positive' result.) I would ask for a repeat. And again, ask for a copy of the actual report and the NUMBER of the result, not just normal/negative, etc.

4. edited: since I saw they ruled out celiac disease. <img src="i/expressions/face-icon-small-smile.gif" border="0"> they had to rule this out for my daughter too during our diagnostic wild good chase...

5. If he has only been seen by one team/cf center/hospital.... find another. A fresh set of eyes might make a great deal of difference. Your little one has been through a LOT and needs answers!!

6. Has he had any stool testing for pancreatic insufficiency? They can do a fecal fat test as well as a fecal elastase test. Fecal fat will look for fat malabsorption, which is commonly seen with cf (but not exclusively with cf) and the elastase test is used to gauge pancreatic function. This can help a great deal... and he can be started on pancreatic enzymes even without an official cf dx if shown to be pancreatic insufficient. If he responds to enzymes this can dramatically help with growth, stools, and improve overall health. It won't solve everything (you still would need to find the overarching diagnosis and help the respiratory conditions) but it is a piece of the puzzle, at least.

7. Has reflux been considered? The fussiness and not sleeping well makes me think of this. It's commonly seen with cf, with pancreatic insufficiency, and if it's severe enough, it can contribute to respiratory problems.

8. What kind of treatment is being done for his respiratory problems, even without a solid dx? Is he getting nebulizer treatments? Given the constant lung infections, I would learn chest PT to help keep his lungs clear. Even if he does not have cf, he will benefit from this from the sounds of it.

Sorry to be all over the place with so many questions... trying to address as many of your concerns as possible and figured a list was the most concise way to do it... I am so sorry you are facing so much and can understand your fear and concern for your little one. <img src="i/expressions/face-icon-small-sad.gif" border="0"> We were on a wild goose chase for a couple years with our daughter and it was very difficult and frustrating until she was dx'ed. However, it wasn't frightening like this during that vulnerable baby stage, and that must make it more difficult.

I hope you get answers soon. I know it's exhausting and frustrating, but don't give up. You are your baby's best advocate, the one who knows him best. We are here to help you as much as we can. <img src="i/expressions/rose.gif" border="0">

 

[hmw]

Some thoughts...
<br />
<br />1. Sweat test within normal range for PA: ask for a copy of the lab report. You are entitled to this.
<br />
<br />2. Genetic testing: I know the first time he had a panel test for 100ish mutations, based on an earlier post of yours. What exactly was the result of that test, other than it couldn't rule out cf (or whatever) ...did they deem him a carrier? Or did they find nothing? I would get a copy of the report. And then what kind of test did he have the 2nd time? If it was not the <b>Ambry Amplified, including deletions and duplications</b>, this is what he needs. It is the most comprehensive genetic test available.
<br />
<br />3. Has he had a repeat sweat test? At 5mo it may be more accurate than it was during the newborn stage, although with babies it can still be dicey and many people are eventiually dx'ed with cf that have sweat tests lower than 60 (the official 'positive' result.) I would ask for a repeat. And again, ask for a copy of the actual report and the NUMBER of the result, not just normal/negative, etc.
<br />
<br />4. edited: since I saw they ruled out celiac disease. <img src="i/expressions/face-icon-small-smile.gif" border="0"> they had to rule this out for my daughter too during our diagnostic wild good chase...
<br />
<br />5. If he has only been seen by one team/cf center/hospital.... find another. A fresh set of eyes might make a great deal of difference. Your little one has been through a LOT and needs answers!!
<br />
<br />6. Has he had any stool testing for pancreatic insufficiency? They can do a fecal fat test as well as a fecal elastase test. Fecal fat will look for fat malabsorption, which is commonly seen with cf (but not exclusively with cf) and the elastase test is used to gauge pancreatic function. This can help a great deal... and he can be started on pancreatic enzymes even without an official cf dx if shown to be pancreatic insufficient. If he responds to enzymes this can dramatically help with growth, stools, and improve overall health. It won't solve everything (you still would need to find the overarching diagnosis and help the respiratory conditions) but it is a piece of the puzzle, at least.
<br />
<br />7. Has reflux been considered? The fussiness and not sleeping well makes me think of this. It's commonly seen with cf, with pancreatic insufficiency, and if it's severe enough, it can contribute to respiratory problems.
<br />
<br />8. What kind of treatment is being done for his respiratory problems, even without a solid dx? Is he getting nebulizer treatments? Given the constant lung infections, I would learn chest PT to help keep his lungs clear. Even if he does not have cf, he will benefit from this from the sounds of it.
<br />
<br />Sorry to be all over the place with so many questions... trying to address as many of your concerns as possible and figured a list was the most concise way to do it... I am so sorry you are facing so much and can understand your fear and concern for your little one. <img src="i/expressions/face-icon-small-sad.gif" border="0"> We were on a wild goose chase for a couple years with our daughter and it was very difficult and frustrating until she was dx'ed. However, it wasn't frightening like this during that vulnerable baby stage, and that must make it more difficult.
<br />
<br />I hope you get answers soon. I know it's exhausting and frustrating, but don't give up. You are your baby's best advocate, the one who knows him best. We are here to help you as much as we can. <img src="i/expressions/rose.gif" border="0">
<br />
<br />

 

[antonette1279]

Thank you so much for getting back to me. Well I can tell you that I DID ask for the results to be sent to me and what was sent was certainly not the FULL results. The paper for the sweat test just said WNL for the state of PA. I asked the doctor for the actual number and he told me "it was within normal" THEN the genetic testing....the results came back as can not rule out CF it did not say anywhere on the paper if he was a carrier or anything else. I also asked the specialist about that and he said that it would have been abnormal if he had CF HOWEVER his pediatrican feels differently. My son is haveing a barium swallow study done however they put him on prevacid due to assuming he has GERD. I am really ready to pull my hair out. Every time I mention the ambry testing to the specialist he seems to blow me off AND it is nearly impossible to get a hold of him. He works out of what I heard is the best hospital for kids with lung issues and that is why I stay there but this is getting very stressful. They did check his stool for pancreatic enzyemes and it was borderline. They have not given him supplements at all. He eats like a little pig. 4 to 6 ounces every hour!!! and he isn't gaining much...he actually lost weight the last time we went to the doctor. Thank you again for your advice I appriciate it!

 

[antonette1279]

Thank you so much for getting back to me. Well I can tell you that I DID ask for the results to be sent to me and what was sent was certainly not the FULL results. The paper for the sweat test just said WNL for the state of PA. I asked the doctor for the actual number and he told me "it was within normal" THEN the genetic testing....the results came back as can not rule out CF it did not say anywhere on the paper if he was a carrier or anything else. I also asked the specialist about that and he said that it would have been abnormal if he had CF HOWEVER his pediatrican feels differently. My son is haveing a barium swallow study done however they put him on prevacid due to assuming he has GERD. I am really ready to pull my hair out. Every time I mention the ambry testing to the specialist he seems to blow me off AND it is nearly impossible to get a hold of him. He works out of what I heard is the best hospital for kids with lung issues and that is why I stay there but this is getting very stressful. They did check his stool for pancreatic enzyemes and it was borderline. They have not given him supplements at all. He eats like a little pig. 4 to 6 ounces every hour!!! and he isn't gaining much...he actually lost weight the last time we went to the doctor. Thank you again for your advice I appriciate it!

 

[antonette1279]

Thank you so much for getting back to me. Well I can tell you that I DID ask for the results to be sent to me and what was sent was certainly not the FULL results. The paper for the sweat test just said WNL for the state of PA. I asked the doctor for the actual number and he told me "it was within normal" THEN the genetic testing....the results came back as can not rule out CF it did not say anywhere on the paper if he was a carrier or anything else. I also asked the specialist about that and he said that it would have been abnormal if he had CF HOWEVER his pediatrican feels differently. My son is haveing a barium swallow study done however they put him on prevacid due to assuming he has GERD. I am really ready to pull my hair out. Every time I mention the ambry testing to the specialist he seems to blow me off AND it is nearly impossible to get a hold of him. He works out of what I heard is the best hospital for kids with lung issues and that is why I stay there but this is getting very stressful. They did check his stool for pancreatic enzyemes and it was borderline. They have not given him supplements at all. He eats like a little pig. 4 to 6 ounces every hour!!! and he isn't gaining much...he actually lost weight the last time we went to the doctor. Thank you again for your advice I appriciate it!

 

[ginathies]

So sorry to hear you are going through this. I really can't offer a lot of help but am just wondering if you could get the doctor to at least get you the pre-digested formula to try or enzymes or something. If all these tests are showing up borderline I can't imagine that it could hurt. It is pricey but I'm sure that is the least of your worries right now. Keep us posted and we'll say a little prayer you get some answers soon. Take care.

 

[ginathies]

So sorry to hear you are going through this. I really can't offer a lot of help but am just wondering if you could get the doctor to at least get you the pre-digested formula to try or enzymes or something. If all these tests are showing up borderline I can't imagine that it could hurt. It is pricey but I'm sure that is the least of your worries right now. Keep us posted and we'll say a little prayer you get some answers soon. Take care.

 

[ginathies]

So sorry to hear you are going through this. I really can't offer a lot of help but am just wondering if you could get the doctor to at least get you the pre-digested formula to try or enzymes or something. If all these tests are showing up borderline I can't imagine that it could hurt. It is pricey but I'm sure that is the least of your worries right now. Keep us posted and we'll say a little prayer you get some answers soon. Take care.

 

[Ratatosk]

Tell your doctor you want a fecal fat test done to see if he needs digestive enzymes. Tell your doctor you would like them to run a cf culture -- being that your son is so little have them do a throat culture and test for common CF bugs. Tell them you'd like another sweat test, done at an accredditted CF facility. Tell your doctor that you need them to do full panel (ambry) genetic testing to RULE out CF. If he refuses to do ANY of these tests, then tell him to put it in your son's chart that parents requested those tests and that he refused because....

You are the customer, you're paying for those doctors appoints where you aren't getting any answers as to why your child is sick.

 

[Ratatosk]

Tell your doctor you want a fecal fat test done to see if he needs digestive enzymes. Tell your doctor you would like them to run a cf culture -- being that your son is so little have them do a throat culture and test for common CF bugs. Tell them you'd like another sweat test, done at an accredditted CF facility. Tell your doctor that you need them to do full panel (ambry) genetic testing to RULE out CF. If he refuses to do ANY of these tests, then tell him to put it in your son's chart that parents requested those tests and that he refused because....

You are the customer, you're paying for those doctors appoints where you aren't getting any answers as to why your child is sick.

 

[Ratatosk]

Tell your doctor you want a fecal fat test done to see if he needs digestive enzymes. Tell your doctor you would like them to run a cf culture -- being that your son is so little have them do a throat culture and test for common CF bugs. Tell them you'd like another sweat test, done at an accredditted CF facility. Tell your doctor that you need them to do full panel (ambry) genetic testing to RULE out CF. If he refuses to do ANY of these tests, then tell him to put it in your son's chart that parents requested those tests and that he refused because....
<br />
<br />You are the customer, you're paying for those doctors appoints where you aren't getting any answers as to why your child is sick.

 

[hmw]

Oh man. I can completely understand why you are so frustrated. <img src="i/expressions/face-icon-small-mad.gif" border="0"> This is unacceptable.

The specialist does not have to be the one to order the Ambry test. Since the pediatrician does not believe that the panel test had to be abnormal for Daegan to have cf, I would try to get the pediatrician to order the Ambry test, since any dr can order it and any lab can do it (it's a kit with one vial and packaging to send it out to Ambry's lab in CA.)

Doctors can be at hospitals known to be the best, but what it comes down to is whether or not they are taking care of *your* child. It doesn't matter whether or not the hospital is rated #1 if your child is sick and not getting the care he needs to thrive. If the hospital has a good pulmonary center, can you see another dr there? If not, I would still consider switching, or at least having a consultation elsewhere.

Borderline pancreatic function concerns me, especially combined with reflux. His constant eating combined with failure to thrive with that test result is a big, huge, waving red flag for pancreatic insufficiency, in my opinion. I am not a medical expert by any means, just a concerned parent... but the results he HAS had to date, combined with his other symptoms, are very concerning. I wonder how he'd do with a trial of enzymes.

I would ask, the next time you are in the pediatrician's office, for him to show you from Daegan's chart the actual paperwork he received regarding the sweat test results and genetic testing results, because the ones you got were incomplete. This might work better in person, when the chart is right there, then over the phone or through mail. If they refuse, tell them this information concerns your son and that you know you have the right to see it.

If this still doesn't work, I would call the lab that did the sweat test as well as the lab that did the cf panel, and tell them you have been unsuccessful in getting a copy of the lab report of the actual numeric results of the sweat test and actual reports for genetic test, and see what you need to do to get a copy from the hospital. You will have to sign a privacy release for the hospital, but should be able to get it from the medical records dept (it might take a week or two.) While you are at it, ask for any of the records re. your son's testing and care you are curious about. It's good to have.

 

[hmw]

Oh man. I can completely understand why you are so frustrated. <img src="i/expressions/face-icon-small-mad.gif" border="0"> This is unacceptable.

The specialist does not have to be the one to order the Ambry test. Since the pediatrician does not believe that the panel test had to be abnormal for Daegan to have cf, I would try to get the pediatrician to order the Ambry test, since any dr can order it and any lab can do it (it's a kit with one vial and packaging to send it out to Ambry's lab in CA.)

Doctors can be at hospitals known to be the best, but what it comes down to is whether or not they are taking care of *your* child. It doesn't matter whether or not the hospital is rated #1 if your child is sick and not getting the care he needs to thrive. If the hospital has a good pulmonary center, can you see another dr there? If not, I would still consider switching, or at least having a consultation elsewhere.

Borderline pancreatic function concerns me, especially combined with reflux. His constant eating combined with failure to thrive with that test result is a big, huge, waving red flag for pancreatic insufficiency, in my opinion. I am not a medical expert by any means, just a concerned parent... but the results he HAS had to date, combined with his other symptoms, are very concerning. I wonder how he'd do with a trial of enzymes.

I would ask, the next time you are in the pediatrician's office, for him to show you from Daegan's chart the actual paperwork he received regarding the sweat test results and genetic testing results, because the ones you got were incomplete. This might work better in person, when the chart is right there, then over the phone or through mail. If they refuse, tell them this information concerns your son and that you know you have the right to see it.

If this still doesn't work, I would call the lab that did the sweat test as well as the lab that did the cf panel, and tell them you have been unsuccessful in getting a copy of the lab report of the actual numeric results of the sweat test and actual reports for genetic test, and see what you need to do to get a copy from the hospital. You will have to sign a privacy release for the hospital, but should be able to get it from the medical records dept (it might take a week or two.) While you are at it, ask for any of the records re. your son's testing and care you are curious about. It's good to have.

 

[hmw]

Oh man. I can completely understand why you are so frustrated. <img src="i/expressions/face-icon-small-mad.gif" border="0"> This is unacceptable.
<br />
<br />The specialist does not have to be the one to order the Ambry test. Since the pediatrician does not believe that the panel test had to be abnormal for Daegan to have cf, I would try to get the pediatrician to order the Ambry test, since any dr can order it and any lab can do it (it's a kit with one vial and packaging to send it out to Ambry's lab in CA.)
<br />
<br />Doctors can be at hospitals known to be the best, but what it comes down to is whether or not they are taking care of *your* child. It doesn't matter whether or not the hospital is rated #1 if your child is sick and not getting the care he needs to thrive. If the hospital has a good pulmonary center, can you see another dr there? If not, I would still consider switching, or at least having a consultation elsewhere.
<br />
<br />Borderline pancreatic function concerns me, especially combined with reflux. His constant eating combined with failure to thrive with that test result is a big, huge, waving red flag for pancreatic insufficiency, in my opinion. I am not a medical expert by any means, just a concerned parent... but the results he HAS had to date, combined with his other symptoms, are very concerning. I wonder how he'd do with a trial of enzymes.
<br />
<br />I would ask, the next time you are in the pediatrician's office, for him to show you from Daegan's chart the actual paperwork he received regarding the sweat test results and genetic testing results, because the ones you got were incomplete. This might work better in person, when the chart is right there, then over the phone or through mail. If they refuse, tell them this information concerns your son and that you know you have the right to see it.
<br />
<br />If this still doesn't work, I would call the lab that did the sweat test as well as the lab that did the cf panel, and tell them you have been unsuccessful in getting a copy of the lab report of the actual numeric results of the sweat test and actual reports for genetic test, and see what you need to do to get a copy from the hospital. You will have to sign a privacy release for the hospital, but should be able to get it from the medical records dept (it might take a week or two.) While you are at it, ask for any of the records re. your son's testing and care you are curious about. It's good to have.
<br />