Update on diagnosis

[stringbean]

My daughter is "failure to thrive" because she lacks growth hormone. She does not have CF, nor does she have digestive issues. So your son can be PS and still be failure to thrive.

Once she started the hormone, she grew immediately, but it took two years before her height and weight corresponded. (She had slipped down to 5th%ile on height and off the charts on weight. Now she's at 35th%ile for both. Woo hoo!) And a glimpse of her paperwork at her last appointment still says "failure to thrive". I don't know if that's old info or if she'll keep that label until she's off the growth hormone at eighteen.

 

[stringbean]

My daughter is "failure to thrive" because she lacks growth hormone. She does not have CF, nor does she have digestive issues. So your son can be PS and still be failure to thrive.

Once she started the hormone, she grew immediately, but it took two years before her height and weight corresponded. (She had slipped down to 5th%ile on height and off the charts on weight. Now she's at 35th%ile for both. Woo hoo!) And a glimpse of her paperwork at her last appointment still says "failure to thrive". I don't know if that's old info or if she'll keep that label until she's off the growth hormone at eighteen.

 

[stringbean]

My daughter is "failure to thrive" because she lacks growth hormone. She does not have CF, nor does she have digestive issues. So your son can be PS and still be failure to thrive.

Once she started the hormone, she grew immediately, but it took two years before her height and weight corresponded. (She had slipped down to 5th%ile on height and off the charts on weight. Now she's at 35th%ile for both. Woo hoo!) And a glimpse of her paperwork at her last appointment still says "failure to thrive". I don't know if that's old info or if she'll keep that label until she's off the growth hormone at eighteen.

 

[stringbean]

My daughter is "failure to thrive" because she lacks growth hormone. She does not have CF, nor does she have digestive issues. So your son can be PS and still be failure to thrive.

Once she started the hormone, she grew immediately, but it took two years before her height and weight corresponded. (She had slipped down to 5th%ile on height and off the charts on weight. Now she's at 35th%ile for both. Woo hoo!) And a glimpse of her paperwork at her last appointment still says "failure to thrive". I don't know if that's old info or if she'll keep that label until she's off the growth hormone at eighteen.

 

[stringbean]

My daughter is "failure to thrive" because she lacks growth hormone. She does not have CF, nor does she have digestive issues. So your son can be PS and still be failure to thrive.
<br />
<br />Once she started the hormone, she grew immediately, but it took two years before her height and weight corresponded. (She had slipped down to 5th%ile on height and off the charts on weight. Now she's at 35th%ile for both. Woo hoo!) And a glimpse of her paperwork at her last appointment still says "failure to thrive". I don't know if that's old info or if she'll keep that label until she's off the growth hormone at eighteen.
<br />
<br />

 

[Mommafirst]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>asiewny</b></i>

Thanks for your replies!



Couple of questions...Can someone still have CF, but be PS <i>and</i> failure to thrive? Can a stool elastase test be wrong if the sample was a constipated sample(it was not his usual bm)? It just seems so obvious to us that he has an absorption problem-he even has to take adult dosages on some of his meds because he metabolizes them so quickly.



Can they find other things like MRSA, PA's or other bacteria from the digestive tract when they do the endoscopy? Could that be one of the things they are looking for?



Ordering and endoscopy to diagnose reflux or gerd just seems so over the top. (he already has been diagnosed years ago) I just want to know what they are looking for and if there is a chance that he is one of those really rare people that has unknown mutations. I don't want him to have CF, but it makes the most sense in describing his health problems. I sure hope that we find out what is causing his FTT and digestive problems. He doesn't fit the bill for schwamann's, I will keep you all updated. We go for the endoscopy next friday.



Thanks for your replies!

Alison</end quote></div>

Can a child have CF, have weight issues and yet be pancreatic sufficient -- ABSOLUTELY!!! My daughter is pancreatic sufficient (though low functioning, she's technically in the sufficient category). She has a feeding tube as well because she couldn't gain weight on her own.

I'm not sure about the stool elastase question, but I do know that even on enzymes they can measure the fecal fat.

They could discover MRSA, PA etc during an endoscopy -- though those wouldn't necessarily be proof of CF. Those things in the lungs, however, might be more likely to be CF. When they did my daughters endoscopy, they also did a bronchoscopy and lavage which would get them the best case of finding CF typical bugs in the lungs.

I have nothing else to add to the rest, but just glad that SDS isn't his profile. I hope you get answers.

 

[Mommafirst]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>asiewny</b></i>

Thanks for your replies!



Couple of questions...Can someone still have CF, but be PS <i>and</i> failure to thrive? Can a stool elastase test be wrong if the sample was a constipated sample(it was not his usual bm)? It just seems so obvious to us that he has an absorption problem-he even has to take adult dosages on some of his meds because he metabolizes them so quickly.



Can they find other things like MRSA, PA's or other bacteria from the digestive tract when they do the endoscopy? Could that be one of the things they are looking for?



Ordering and endoscopy to diagnose reflux or gerd just seems so over the top. (he already has been diagnosed years ago) I just want to know what they are looking for and if there is a chance that he is one of those really rare people that has unknown mutations. I don't want him to have CF, but it makes the most sense in describing his health problems. I sure hope that we find out what is causing his FTT and digestive problems. He doesn't fit the bill for schwamann's, I will keep you all updated. We go for the endoscopy next friday.



Thanks for your replies!

Alison</end quote></div>

Can a child have CF, have weight issues and yet be pancreatic sufficient -- ABSOLUTELY!!! My daughter is pancreatic sufficient (though low functioning, she's technically in the sufficient category). She has a feeding tube as well because she couldn't gain weight on her own.

I'm not sure about the stool elastase question, but I do know that even on enzymes they can measure the fecal fat.

They could discover MRSA, PA etc during an endoscopy -- though those wouldn't necessarily be proof of CF. Those things in the lungs, however, might be more likely to be CF. When they did my daughters endoscopy, they also did a bronchoscopy and lavage which would get them the best case of finding CF typical bugs in the lungs.

I have nothing else to add to the rest, but just glad that SDS isn't his profile. I hope you get answers.

 

[Mommafirst]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>asiewny</b></i>

Thanks for your replies!



Couple of questions...Can someone still have CF, but be PS <i>and</i> failure to thrive? Can a stool elastase test be wrong if the sample was a constipated sample(it was not his usual bm)? It just seems so obvious to us that he has an absorption problem-he even has to take adult dosages on some of his meds because he metabolizes them so quickly.



Can they find other things like MRSA, PA's or other bacteria from the digestive tract when they do the endoscopy? Could that be one of the things they are looking for?



Ordering and endoscopy to diagnose reflux or gerd just seems so over the top. (he already has been diagnosed years ago) I just want to know what they are looking for and if there is a chance that he is one of those really rare people that has unknown mutations. I don't want him to have CF, but it makes the most sense in describing his health problems. I sure hope that we find out what is causing his FTT and digestive problems. He doesn't fit the bill for schwamann's, I will keep you all updated. We go for the endoscopy next friday.



Thanks for your replies!

Alison</end quote></div>

Can a child have CF, have weight issues and yet be pancreatic sufficient -- ABSOLUTELY!!! My daughter is pancreatic sufficient (though low functioning, she's technically in the sufficient category). She has a feeding tube as well because she couldn't gain weight on her own.

I'm not sure about the stool elastase question, but I do know that even on enzymes they can measure the fecal fat.

They could discover MRSA, PA etc during an endoscopy -- though those wouldn't necessarily be proof of CF. Those things in the lungs, however, might be more likely to be CF. When they did my daughters endoscopy, they also did a bronchoscopy and lavage which would get them the best case of finding CF typical bugs in the lungs.

I have nothing else to add to the rest, but just glad that SDS isn't his profile. I hope you get answers.

 

[Mommafirst]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>asiewny</b></i>

Thanks for your replies!



Couple of questions...Can someone still have CF, but be PS <i>and</i> failure to thrive? Can a stool elastase test be wrong if the sample was a constipated sample(it was not his usual bm)? It just seems so obvious to us that he has an absorption problem-he even has to take adult dosages on some of his meds because he metabolizes them so quickly.



Can they find other things like MRSA, PA's or other bacteria from the digestive tract when they do the endoscopy? Could that be one of the things they are looking for?



Ordering and endoscopy to diagnose reflux or gerd just seems so over the top. (he already has been diagnosed years ago) I just want to know what they are looking for and if there is a chance that he is one of those really rare people that has unknown mutations. I don't want him to have CF, but it makes the most sense in describing his health problems. I sure hope that we find out what is causing his FTT and digestive problems. He doesn't fit the bill for schwamann's, I will keep you all updated. We go for the endoscopy next friday.



Thanks for your replies!

Alison</end quote>

Can a child have CF, have weight issues and yet be pancreatic sufficient -- ABSOLUTELY!!! My daughter is pancreatic sufficient (though low functioning, she's technically in the sufficient category). She has a feeding tube as well because she couldn't gain weight on her own.

I'm not sure about the stool elastase question, but I do know that even on enzymes they can measure the fecal fat.

They could discover MRSA, PA etc during an endoscopy -- though those wouldn't necessarily be proof of CF. Those things in the lungs, however, might be more likely to be CF. When they did my daughters endoscopy, they also did a bronchoscopy and lavage which would get them the best case of finding CF typical bugs in the lungs.

I have nothing else to add to the rest, but just glad that SDS isn't his profile. I hope you get answers.

 

[Mommafirst]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>asiewny</b></i>
<br />
<br />Thanks for your replies!
<br />
<br />
<br />
<br />Couple of questions...Can someone still have CF, but be PS <i>and</i> failure to thrive? Can a stool elastase test be wrong if the sample was a constipated sample(it was not his usual bm)? It just seems so obvious to us that he has an absorption problem-he even has to take adult dosages on some of his meds because he metabolizes them so quickly.
<br />
<br />
<br />
<br />Can they find other things like MRSA, PA's or other bacteria from the digestive tract when they do the endoscopy? Could that be one of the things they are looking for?
<br />
<br />
<br />
<br />Ordering and endoscopy to diagnose reflux or gerd just seems so over the top. (he already has been diagnosed years ago) I just want to know what they are looking for and if there is a chance that he is one of those really rare people that has unknown mutations. I don't want him to have CF, but it makes the most sense in describing his health problems. I sure hope that we find out what is causing his FTT and digestive problems. He doesn't fit the bill for schwamann's, I will keep you all updated. We go for the endoscopy next friday.
<br />
<br />
<br />
<br />Thanks for your replies!
<br />
<br />Alison</end quote>
<br />
<br />Can a child have CF, have weight issues and yet be pancreatic sufficient -- ABSOLUTELY!!! My daughter is pancreatic sufficient (though low functioning, she's technically in the sufficient category). She has a feeding tube as well because she couldn't gain weight on her own.
<br />
<br />I'm not sure about the stool elastase question, but I do know that even on enzymes they can measure the fecal fat.
<br />
<br />They could discover MRSA, PA etc during an endoscopy -- though those wouldn't necessarily be proof of CF. Those things in the lungs, however, might be more likely to be CF. When they did my daughters endoscopy, they also did a bronchoscopy and lavage which would get them the best case of finding CF typical bugs in the lungs.
<br />
<br />I have nothing else to add to the rest, but just glad that SDS isn't his profile. I hope you get answers.
<br />

 

[LouLou]

Considering your child is failure to thrive (or off growth charts can't remember how you defined it) yet is PS I think it is completely reasonable and smart for them to what to scope the GI tract. I think they are looking for clues of what his prob might be not necessarily cf. They aren't just looking for something so they can label him cf.

 

[LouLou]

Considering your child is failure to thrive (or off growth charts can't remember how you defined it) yet is PS I think it is completely reasonable and smart for them to what to scope the GI tract. I think they are looking for clues of what his prob might be not necessarily cf. They aren't just looking for something so they can label him cf.

 

[LouLou]

Considering your child is failure to thrive (or off growth charts can't remember how you defined it) yet is PS I think it is completely reasonable and smart for them to what to scope the GI tract. I think they are looking for clues of what his prob might be not necessarily cf. They aren't just looking for something so they can label him cf.

 

[LouLou]

Considering your child is failure to thrive (or off growth charts can't remember how you defined it) yet is PS I think it is completely reasonable and smart for them to what to scope the GI tract. I think they are looking for clues of what his prob might be not necessarily cf. They aren't just looking for something so they can label him cf.

 

[LouLou]

Considering your child is failure to thrive (or off growth charts can't remember how you defined it) yet is PS I think it is completely reasonable and smart for them to what to scope the GI tract. I think they are looking for clues of what his prob might be not necessarily cf. They aren't just looking for something so they can label him cf.

 

[MicheleGazelle]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>asiewny</b></i>
Could there still be a chance he has CF with no gene mutations?</end quote></div>

My son and I were both diagnosed with "atypical CF" based on borderline sweat tests and a long history of health problems. The blood test we had not identify our mutations. My insurance company turned down my doctor's request for a more comprehensive (more expensive) genetic test.

Here is what I think:
First, two people with the same known genetic mutations can have very different outcomes. So I don't think CF genes alone are the whole story. I think other genes one has, which may not currently be recognized as related to CF, also play a role. And I think environment and lifestyle play a big role.

Second, the list of mutations has grown over the years. So not having any of the currently known mutations doesn't seem like a definite "no CF" diagnosis to me. Also, I would wonder how comprehensive the genetic test was. Some people don't find out what their mutations are until they have a more comprehensive exam.

Third, my son had not been on antibiotics for over 3 years before he was diagnosed. He was at a clinic where he saw different doctors every time he went whereas I was a clinic where I saw the same doctor every time. Any time someone new saw my son, they consistently asked "Are you sure he has CF?" I have also had people try to tell me my diagnosis can't be correct because I'm too healthy. But getting diagnosed with CF is why I have been able to get well, so I don't think the diagnosis is wrong. Incorrect diagnoses usually lead to more frustration, not dramatic improvements in health. So it is clear to me that most people currently define CF in their minds as "someone who is very ill in a certain way" rather than "someone with certain types of traits which makes them vulnerable to certain types of illness". As long as people think CF = "you must be really, really sick", then we have a serious obstacle to genuinely getting people well. I see CF as "having certain traits, which make me prone to getting sick" and that has given me a great deal of power to get healthier.

I guess the answer to your question depends in part on what definition you (and the doctors) are using. And I don't really care much about labels. I care whether those labels lead to useful information, better health care from doctors, and better ability to take care of myself and my children. An accurate diagnosis can be a wonderful thing. But, really, I would probably never have gotten so sick if doctors had just taken me seriously all those years before my diagnosis when I would go to the ER and say "If you give me that wimpy dose of wimpy antibiotics, I will be back again in a week or two". If you have a good doctor who really listens to you and communicates well with you and takes your concerns and issues seriously, that's probably more important than what they decide to call it.

Good luck with this.

 

[MicheleGazelle]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>asiewny</b></i>
Could there still be a chance he has CF with no gene mutations?</end quote></div>

My son and I were both diagnosed with "atypical CF" based on borderline sweat tests and a long history of health problems. The blood test we had not identify our mutations. My insurance company turned down my doctor's request for a more comprehensive (more expensive) genetic test.

Here is what I think:
First, two people with the same known genetic mutations can have very different outcomes. So I don't think CF genes alone are the whole story. I think other genes one has, which may not currently be recognized as related to CF, also play a role. And I think environment and lifestyle play a big role.

Second, the list of mutations has grown over the years. So not having any of the currently known mutations doesn't seem like a definite "no CF" diagnosis to me. Also, I would wonder how comprehensive the genetic test was. Some people don't find out what their mutations are until they have a more comprehensive exam.

Third, my son had not been on antibiotics for over 3 years before he was diagnosed. He was at a clinic where he saw different doctors every time he went whereas I was a clinic where I saw the same doctor every time. Any time someone new saw my son, they consistently asked "Are you sure he has CF?" I have also had people try to tell me my diagnosis can't be correct because I'm too healthy. But getting diagnosed with CF is why I have been able to get well, so I don't think the diagnosis is wrong. Incorrect diagnoses usually lead to more frustration, not dramatic improvements in health. So it is clear to me that most people currently define CF in their minds as "someone who is very ill in a certain way" rather than "someone with certain types of traits which makes them vulnerable to certain types of illness". As long as people think CF = "you must be really, really sick", then we have a serious obstacle to genuinely getting people well. I see CF as "having certain traits, which make me prone to getting sick" and that has given me a great deal of power to get healthier.

I guess the answer to your question depends in part on what definition you (and the doctors) are using. And I don't really care much about labels. I care whether those labels lead to useful information, better health care from doctors, and better ability to take care of myself and my children. An accurate diagnosis can be a wonderful thing. But, really, I would probably never have gotten so sick if doctors had just taken me seriously all those years before my diagnosis when I would go to the ER and say "If you give me that wimpy dose of wimpy antibiotics, I will be back again in a week or two". If you have a good doctor who really listens to you and communicates well with you and takes your concerns and issues seriously, that's probably more important than what they decide to call it.

Good luck with this.

 

[MicheleGazelle]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>asiewny</b></i>
Could there still be a chance he has CF with no gene mutations?</end quote></div>

My son and I were both diagnosed with "atypical CF" based on borderline sweat tests and a long history of health problems. The blood test we had not identify our mutations. My insurance company turned down my doctor's request for a more comprehensive (more expensive) genetic test.

Here is what I think:
First, two people with the same known genetic mutations can have very different outcomes. So I don't think CF genes alone are the whole story. I think other genes one has, which may not currently be recognized as related to CF, also play a role. And I think environment and lifestyle play a big role.

Second, the list of mutations has grown over the years. So not having any of the currently known mutations doesn't seem like a definite "no CF" diagnosis to me. Also, I would wonder how comprehensive the genetic test was. Some people don't find out what their mutations are until they have a more comprehensive exam.

Third, my son had not been on antibiotics for over 3 years before he was diagnosed. He was at a clinic where he saw different doctors every time he went whereas I was a clinic where I saw the same doctor every time. Any time someone new saw my son, they consistently asked "Are you sure he has CF?" I have also had people try to tell me my diagnosis can't be correct because I'm too healthy. But getting diagnosed with CF is why I have been able to get well, so I don't think the diagnosis is wrong. Incorrect diagnoses usually lead to more frustration, not dramatic improvements in health. So it is clear to me that most people currently define CF in their minds as "someone who is very ill in a certain way" rather than "someone with certain types of traits which makes them vulnerable to certain types of illness". As long as people think CF = "you must be really, really sick", then we have a serious obstacle to genuinely getting people well. I see CF as "having certain traits, which make me prone to getting sick" and that has given me a great deal of power to get healthier.

I guess the answer to your question depends in part on what definition you (and the doctors) are using. And I don't really care much about labels. I care whether those labels lead to useful information, better health care from doctors, and better ability to take care of myself and my children. An accurate diagnosis can be a wonderful thing. But, really, I would probably never have gotten so sick if doctors had just taken me seriously all those years before my diagnosis when I would go to the ER and say "If you give me that wimpy dose of wimpy antibiotics, I will be back again in a week or two". If you have a good doctor who really listens to you and communicates well with you and takes your concerns and issues seriously, that's probably more important than what they decide to call it.

Good luck with this.

 

[MicheleGazelle]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>asiewny</b></i>
Could there still be a chance he has CF with no gene mutations?</end quote>

My son and I were both diagnosed with "atypical CF" based on borderline sweat tests and a long history of health problems. The blood test we had not identify our mutations. My insurance company turned down my doctor's request for a more comprehensive (more expensive) genetic test.

Here is what I think:
First, two people with the same known genetic mutations can have very different outcomes. So I don't think CF genes alone are the whole story. I think other genes one has, which may not currently be recognized as related to CF, also play a role. And I think environment and lifestyle play a big role.

Second, the list of mutations has grown over the years. So not having any of the currently known mutations doesn't seem like a definite "no CF" diagnosis to me. Also, I would wonder how comprehensive the genetic test was. Some people don't find out what their mutations are until they have a more comprehensive exam.

Third, my son had not been on antibiotics for over 3 years before he was diagnosed. He was at a clinic where he saw different doctors every time he went whereas I was a clinic where I saw the same doctor every time. Any time someone new saw my son, they consistently asked "Are you sure he has CF?" I have also had people try to tell me my diagnosis can't be correct because I'm too healthy. But getting diagnosed with CF is why I have been able to get well, so I don't think the diagnosis is wrong. Incorrect diagnoses usually lead to more frustration, not dramatic improvements in health. So it is clear to me that most people currently define CF in their minds as "someone who is very ill in a certain way" rather than "someone with certain types of traits which makes them vulnerable to certain types of illness". As long as people think CF = "you must be really, really sick", then we have a serious obstacle to genuinely getting people well. I see CF as "having certain traits, which make me prone to getting sick" and that has given me a great deal of power to get healthier.

I guess the answer to your question depends in part on what definition you (and the doctors) are using. And I don't really care much about labels. I care whether those labels lead to useful information, better health care from doctors, and better ability to take care of myself and my children. An accurate diagnosis can be a wonderful thing. But, really, I would probably never have gotten so sick if doctors had just taken me seriously all those years before my diagnosis when I would go to the ER and say "If you give me that wimpy dose of wimpy antibiotics, I will be back again in a week or two". If you have a good doctor who really listens to you and communicates well with you and takes your concerns and issues seriously, that's probably more important than what they decide to call it.

Good luck with this.

 

[MicheleGazelle]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>asiewny</b></i>
<br /> Could there still be a chance he has CF with no gene mutations?</end quote>
<br />
<br />My son and I were both diagnosed with "atypical CF" based on borderline sweat tests and a long history of health problems. The blood test we had not identify our mutations. My insurance company turned down my doctor's request for a more comprehensive (more expensive) genetic test.
<br />
<br />Here is what I think:
<br />First, two people with the same known genetic mutations can have very different outcomes. So I don't think CF genes alone are the whole story. I think other genes one has, which may not currently be recognized as related to CF, also play a role. And I think environment and lifestyle play a big role.
<br />
<br />Second, the list of mutations has grown over the years. So not having any of the currently known mutations doesn't seem like a definite "no CF" diagnosis to me. Also, I would wonder how comprehensive the genetic test was. Some people don't find out what their mutations are until they have a more comprehensive exam.
<br />
<br />Third, my son had not been on antibiotics for over 3 years before he was diagnosed. He was at a clinic where he saw different doctors every time he went whereas I was a clinic where I saw the same doctor every time. Any time someone new saw my son, they consistently asked "Are you sure he has CF?" I have also had people try to tell me my diagnosis can't be correct because I'm too healthy. But getting diagnosed with CF is why I have been able to get well, so I don't think the diagnosis is wrong. Incorrect diagnoses usually lead to more frustration, not dramatic improvements in health. So it is clear to me that most people currently define CF in their minds as "someone who is very ill in a certain way" rather than "someone with certain types of traits which makes them vulnerable to certain types of illness". As long as people think CF = "you must be really, really sick", then we have a serious obstacle to genuinely getting people well. I see CF as "having certain traits, which make me prone to getting sick" and that has given me a great deal of power to get healthier.
<br />
<br />I guess the answer to your question depends in part on what definition you (and the doctors) are using. And I don't really care much about labels. I care whether those labels lead to useful information, better health care from doctors, and better ability to take care of myself and my children. An accurate diagnosis can be a wonderful thing. But, really, I would probably never have gotten so sick if doctors had just taken me seriously all those years before my diagnosis when I would go to the ER and say "If you give me that wimpy dose of wimpy antibiotics, I will be back again in a week or two". If you have a good doctor who really listens to you and communicates well with you and takes your concerns and issues seriously, that's probably more important than what they decide to call it.
<br />
<br />Good luck with this.