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Update on diagnosis

A

asiewny

New member
Hi everyone! Just wanted to let you know the latest on our diagnosis status. My 10 year old son was referred to the CF clinic because of a high borderline sweat test last January- 2 CF clinics, a MRSA culture and another specialist appt. later, his amplified genzyme genetic test came back with no mutations! So I was very pleased with that, but am still very perplexed as the CF dr. still wants to follow him in pulmonary clinic because of asthma and she thinks he has allergies. She ordered allergy testing and some sort of methylsomething challange test. She also referred him for an upper GI and to a GI specialist. But she did say "no CF." We get to the GI dr and she orders an endoscopy with biopsies because of his reflux. She said that it was good that the pulmo dr. was still following him. I just don't know what to think about all of this-he is failure to thrive but his stool elastase came back normal. I am worried about the scope test and wonder what they are looking for. I just feel like this whole diagnosis process is taking a lifetime and I just want to get to the bottom of it. He also will start his growth hormone injections this week because he is growth hormone deficient. He has been tested for celiac it seems like upteem times and it's always negative! Anyone have any idea what they might be looking for with this scope and upper GI? Could there still be a chance he has CF with no gene mutations?
 
A

asiewny

New member
Hi everyone! Just wanted to let you know the latest on our diagnosis status. My 10 year old son was referred to the CF clinic because of a high borderline sweat test last January- 2 CF clinics, a MRSA culture and another specialist appt. later, his amplified genzyme genetic test came back with no mutations! So I was very pleased with that, but am still very perplexed as the CF dr. still wants to follow him in pulmonary clinic because of asthma and she thinks he has allergies. She ordered allergy testing and some sort of methylsomething challange test. She also referred him for an upper GI and to a GI specialist. But she did say "no CF." We get to the GI dr and she orders an endoscopy with biopsies because of his reflux. She said that it was good that the pulmo dr. was still following him. I just don't know what to think about all of this-he is failure to thrive but his stool elastase came back normal. I am worried about the scope test and wonder what they are looking for. I just feel like this whole diagnosis process is taking a lifetime and I just want to get to the bottom of it. He also will start his growth hormone injections this week because he is growth hormone deficient. He has been tested for celiac it seems like upteem times and it's always negative! Anyone have any idea what they might be looking for with this scope and upper GI? Could there still be a chance he has CF with no gene mutations?
 
A

asiewny

New member
Hi everyone! Just wanted to let you know the latest on our diagnosis status. My 10 year old son was referred to the CF clinic because of a high borderline sweat test last January- 2 CF clinics, a MRSA culture and another specialist appt. later, his amplified genzyme genetic test came back with no mutations! So I was very pleased with that, but am still very perplexed as the CF dr. still wants to follow him in pulmonary clinic because of asthma and she thinks he has allergies. She ordered allergy testing and some sort of methylsomething challange test. She also referred him for an upper GI and to a GI specialist. But she did say "no CF." We get to the GI dr and she orders an endoscopy with biopsies because of his reflux. She said that it was good that the pulmo dr. was still following him. I just don't know what to think about all of this-he is failure to thrive but his stool elastase came back normal. I am worried about the scope test and wonder what they are looking for. I just feel like this whole diagnosis process is taking a lifetime and I just want to get to the bottom of it. He also will start his growth hormone injections this week because he is growth hormone deficient. He has been tested for celiac it seems like upteem times and it's always negative! Anyone have any idea what they might be looking for with this scope and upper GI? Could there still be a chance he has CF with no gene mutations?
 
A

asiewny

New member
Hi everyone! Just wanted to let you know the latest on our diagnosis status. My 10 year old son was referred to the CF clinic because of a high borderline sweat test last January- 2 CF clinics, a MRSA culture and another specialist appt. later, his amplified genzyme genetic test came back with no mutations! So I was very pleased with that, but am still very perplexed as the CF dr. still wants to follow him in pulmonary clinic because of asthma and she thinks he has allergies. She ordered allergy testing and some sort of methylsomething challange test. She also referred him for an upper GI and to a GI specialist. But she did say "no CF." We get to the GI dr and she orders an endoscopy with biopsies because of his reflux. She said that it was good that the pulmo dr. was still following him. I just don't know what to think about all of this-he is failure to thrive but his stool elastase came back normal. I am worried about the scope test and wonder what they are looking for. I just feel like this whole diagnosis process is taking a lifetime and I just want to get to the bottom of it. He also will start his growth hormone injections this week because he is growth hormone deficient. He has been tested for celiac it seems like upteem times and it's always negative! Anyone have any idea what they might be looking for with this scope and upper GI? Could there still be a chance he has CF with no gene mutations?
 
A

asiewny

New member
Hi everyone! Just wanted to let you know the latest on our diagnosis status. My 10 year old son was referred to the CF clinic because of a high borderline sweat test last January- 2 CF clinics, a MRSA culture and another specialist appt. later, his amplified genzyme genetic test came back with no mutations! So I was very pleased with that, but am still very perplexed as the CF dr. still wants to follow him in pulmonary clinic because of asthma and she thinks he has allergies. She ordered allergy testing and some sort of methylsomething challange test. She also referred him for an upper GI and to a GI specialist. But she did say "no CF." We get to the GI dr and she orders an endoscopy with biopsies because of his reflux. She said that it was good that the pulmo dr. was still following him. I just don't know what to think about all of this-he is failure to thrive but his stool elastase came back normal. I am worried about the scope test and wonder what they are looking for. I just feel like this whole diagnosis process is taking a lifetime and I just want to get to the bottom of it. He also will start his growth hormone injections this week because he is growth hormone deficient. He has been tested for celiac it seems like upteem times and it's always negative! Anyone have any idea what they might be looking for with this scope and upper GI? Could there still be a chance he has CF with no gene mutations?
 
M

Mommafirst

Guest
I'm so sorry you are still in limbo. I don't really know what to say.... have you had him tested for schwachman diamond syndrome?? That's the only thing I can think of that has similar to CF symptoms including high/borderline sweats. I hope it isn't though.
 
M

Mommafirst

Guest
I'm so sorry you are still in limbo. I don't really know what to say.... have you had him tested for schwachman diamond syndrome?? That's the only thing I can think of that has similar to CF symptoms including high/borderline sweats. I hope it isn't though.
 
M

Mommafirst

Guest
I'm so sorry you are still in limbo. I don't really know what to say.... have you had him tested for schwachman diamond syndrome?? That's the only thing I can think of that has similar to CF symptoms including high/borderline sweats. I hope it isn't though.
 
M

Mommafirst

Guest
I'm so sorry you are still in limbo. I don't really know what to say.... have you had him tested for schwachman diamond syndrome?? That's the only thing I can think of that has similar to CF symptoms including high/borderline sweats. I hope it isn't though.
 
M

Mommafirst

Guest
I'm so sorry you are still in limbo. I don't really know what to say.... have you had him tested for schwachman diamond syndrome?? That's the only thing I can think of that has similar to CF symptoms including high/borderline sweats. I hope it isn't though.
 
K

kate620

New member
I don't know how extensive the tests were but couldn't someone have 2 rare unidentified genes? My daughter has 1 unidentified. I would think if it's possible to have 1 unidentified then you could have 2. I guess it would be weird but heck, cf is weird.<img src="i/expressions/face-icon-small-tongue.gif" border="0"> My daughter's journey for diagnosis was not easy either. I couldn't count how many times I was told "no cf" and I was very pleased too! Her stool test came back normal even though they tested her originally due to failure to thrive. Still don't understand that. She was a normal weight until about 2 and then she dropped to like the 1 percentile. She is still very small for her age. She also had the borderline sweat tests. It was her growing pseudemonas in a culture that made them say"yes cf". I hope this not the case for your child. Keep me updated please.
 
K

kate620

New member
I don't know how extensive the tests were but couldn't someone have 2 rare unidentified genes? My daughter has 1 unidentified. I would think if it's possible to have 1 unidentified then you could have 2. I guess it would be weird but heck, cf is weird.<img src="i/expressions/face-icon-small-tongue.gif" border="0"> My daughter's journey for diagnosis was not easy either. I couldn't count how many times I was told "no cf" and I was very pleased too! Her stool test came back normal even though they tested her originally due to failure to thrive. Still don't understand that. She was a normal weight until about 2 and then she dropped to like the 1 percentile. She is still very small for her age. She also had the borderline sweat tests. It was her growing pseudemonas in a culture that made them say"yes cf". I hope this not the case for your child. Keep me updated please.
 
K

kate620

New member
I don't know how extensive the tests were but couldn't someone have 2 rare unidentified genes? My daughter has 1 unidentified. I would think if it's possible to have 1 unidentified then you could have 2. I guess it would be weird but heck, cf is weird.<img src="i/expressions/face-icon-small-tongue.gif" border="0"> My daughter's journey for diagnosis was not easy either. I couldn't count how many times I was told "no cf" and I was very pleased too! Her stool test came back normal even though they tested her originally due to failure to thrive. Still don't understand that. She was a normal weight until about 2 and then she dropped to like the 1 percentile. She is still very small for her age. She also had the borderline sweat tests. It was her growing pseudemonas in a culture that made them say"yes cf". I hope this not the case for your child. Keep me updated please.
 
K

kate620

New member
I don't know how extensive the tests were but couldn't someone have 2 rare unidentified genes? My daughter has 1 unidentified. I would think if it's possible to have 1 unidentified then you could have 2. I guess it would be weird but heck, cf is weird.<img src="i/expressions/face-icon-small-tongue.gif" border="0"> My daughter's journey for diagnosis was not easy either. I couldn't count how many times I was told "no cf" and I was very pleased too! Her stool test came back normal even though they tested her originally due to failure to thrive. Still don't understand that. She was a normal weight until about 2 and then she dropped to like the 1 percentile. She is still very small for her age. She also had the borderline sweat tests. It was her growing pseudemonas in a culture that made them say"yes cf". I hope this not the case for your child. Keep me updated please.
 
K

kate620

New member
I don't know how extensive the tests were but couldn't someone have 2 rare unidentified genes? My daughter has 1 unidentified. I would think if it's possible to have 1 unidentified then you could have 2. I guess it would be weird but heck, cf is weird.<img src="i/expressions/face-icon-small-tongue.gif" border="0"> My daughter's journey for diagnosis was not easy either. I couldn't count how many times I was told "no cf" and I was very pleased too! Her stool test came back normal even though they tested her originally due to failure to thrive. Still don't understand that. She was a normal weight until about 2 and then she dropped to like the 1 percentile. She is still very small for her age. She also had the borderline sweat tests. It was her growing pseudemonas in a culture that made them say"yes cf". I hope this not the case for your child. Keep me updated please.
 
A

asiewny

New member
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
 
A

asiewny

New member
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
 
A

asiewny

New member
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
 
A

asiewny

New member
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
 
A

asiewny

New member
Thanks for your replies!
<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 />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 />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 />Thanks for your replies!
<br />Alison
 
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