Testing questions

[Munkeesmama]

Well, I finally got our doctor to do some CF testing. apparently the test, tested for 36 mutations. Well, all of her other labs are coming back "normal" including celiac (what she thought was probably it). Her pre-albumin was low and her pancreatic function? was "low normal" which she says she is borderline on just being low. She said these 2 things go with CF but it hasn't been unheard of to go with celiac, just rare. So, she wants to do a biopsy for celiac (she's not convince it's not that even though the test came back normal) but she also said she wants to do a sweat test. I guess, my main question is if you or your kid had the 36 mutation test done and it came back normal (negative) did you go on to have more testing and show positive? I'm not convinced it's celiac. she ate a ton of gluten and i think it would have shown positive if it was, i'm not ruling it out completely either. I'm not convince shed has CF either (no family history) but it seems more likely considering she only had 36 mutations tested, the low pancreatic function, low prealbumin..she had an echo done whcih is now showing an enlarge heart and she does have lung damage (could be caused by prematurity). I really just want answers at this point and don't really care what it is. We'll manage, but not knowing sucks.

 

[Munkeesmama]

Well, I finally got our doctor to do some CF testing. apparently the test, tested for 36 mutations. Well, all of her other labs are coming back "normal" including celiac (what she thought was probably it). Her pre-albumin was low and her pancreatic function? was "low normal" which she says she is borderline on just being low. She said these 2 things go with CF but it hasn't been unheard of to go with celiac, just rare. So, she wants to do a biopsy for celiac (she's not convince it's not that even though the test came back normal) but she also said she wants to do a sweat test. I guess, my main question is if you or your kid had the 36 mutation test done and it came back normal (negative) did you go on to have more testing and show positive? I'm not convinced it's celiac. she ate a ton of gluten and i think it would have shown positive if it was, i'm not ruling it out completely either. I'm not convince shed has CF either (no family history) but it seems more likely considering she only had 36 mutations tested, the low pancreatic function, low prealbumin..she had an echo done whcih is now showing an enlarge heart and she does have lung damage (could be caused by prematurity). I really just want answers at this point and don't really care what it is. We'll manage, but not knowing sucks.

 

[Munkeesmama]

Well, I finally got our doctor to do some CF testing. apparently the test, tested for 36 mutations. Well, all of her other labs are coming back "normal" including celiac (what she thought was probably it). Her pre-albumin was low and her pancreatic function? was "low normal" which she says she is borderline on just being low. She said these 2 things go with CF but it hasn't been unheard of to go with celiac, just rare. So, she wants to do a biopsy for celiac (she's not convince it's not that even though the test came back normal) but she also said she wants to do a sweat test. I guess, my main question is if you or your kid had the 36 mutation test done and it came back normal (negative) did you go on to have more testing and show positive? I'm not convinced it's celiac. she ate a ton of gluten and i think it would have shown positive if it was, i'm not ruling it out completely either. I'm not convince shed has CF either (no family history) but it seems more likely considering she only had 36 mutations tested, the low pancreatic function, low prealbumin..she had an echo done whcih is now showing an enlarge heart and she does have lung damage (could be caused by prematurity). I really just want answers at this point and don't really care what it is. We'll manage, but not knowing sucks.

 

[Munkeesmama]

Well, I finally got our doctor to do some CF testing. apparently the test, tested for 36 mutations. Well, all of her other labs are coming back "normal" including celiac (what she thought was probably it). Her pre-albumin was low and her pancreatic function? was "low normal" which she says she is borderline on just being low. She said these 2 things go with CF but it hasn't been unheard of to go with celiac, just rare. So, she wants to do a biopsy for celiac (she's not convince it's not that even though the test came back normal) but she also said she wants to do a sweat test. I guess, my main question is if you or your kid had the 36 mutation test done and it came back normal (negative) did you go on to have more testing and show positive? I'm not convinced it's celiac. she ate a ton of gluten and i think it would have shown positive if it was, i'm not ruling it out completely either. I'm not convince shed has CF either (no family history) but it seems more likely considering she only had 36 mutations tested, the low pancreatic function, low prealbumin..she had an echo done whcih is now showing an enlarge heart and she does have lung damage (could be caused by prematurity). I really just want answers at this point and don't really care what it is. We'll manage, but not knowing sucks.

 

[Munkeesmama]

Well, I finally got our doctor to do some CF testing. apparently the test, tested for 36 mutations. Well, all of her other labs are coming back "normal" including celiac (what she thought was probably it). Her pre-albumin was low and her pancreatic function? was "low normal" which she says she is borderline on just being low. She said these 2 things go with CF but it hasn't been unheard of to go with celiac, just rare. So, she wants to do a biopsy for celiac (she's not convince it's not that even though the test came back normal) but she also said she wants to do a sweat test. I guess, my main question is if you or your kid had the 36 mutation test done and it came back normal (negative) did you go on to have more testing and show positive? I'm not convinced it's celiac. she ate a ton of gluten and i think it would have shown positive if it was, i'm not ruling it out completely either. I'm not convince shed has CF either (no family history) but it seems more likely considering she only had 36 mutations tested, the low pancreatic function, low prealbumin..she had an echo done whcih is now showing an enlarge heart and she does have lung damage (could be caused by prematurity). I really just want answers at this point and don't really care what it is. We'll manage, but not knowing sucks.

 

[JazzysMom]

36 mutations out of the over 1500 is not a lot. Family history doesnt mean anything either. A majority of diagnoss have no known history.

If I were you, I would push for the full panel so you can rule out CF as best as possible instead of having too many maybes for it.

The lung damage is a red flag!

 

[JazzysMom]

36 mutations out of the over 1500 is not a lot. Family history doesnt mean anything either. A majority of diagnoss have no known history.

If I were you, I would push for the full panel so you can rule out CF as best as possible instead of having too many maybes for it.

The lung damage is a red flag!

 

[JazzysMom]

36 mutations out of the over 1500 is not a lot. Family history doesnt mean anything either. A majority of diagnoss have no known history.

If I were you, I would push for the full panel so you can rule out CF as best as possible instead of having too many maybes for it.

The lung damage is a red flag!

 

[JazzysMom]

36 mutations out of the over 1500 is not a lot. Family history doesnt mean anything either. A majority of diagnoss have no known history.

If I were you, I would push for the full panel so you can rule out CF as best as possible instead of having too many maybes for it.

The lung damage is a red flag!

 

[JazzysMom]

36 mutations out of the over 1500 is not a lot. Family history doesnt mean anything either. A majority of diagnoss have no known history.
<br />
<br />If I were you, I would push for the full panel so you can rule out CF as best as possible instead of having too many maybes for it.
<br />
<br />The lung damage is a red flag!

 

[Sevenstars]

There was NO known CF history in my family before me. Not a single person on either side. So yes, I'll agree with Mel and say push for the full panel test. Like you said, not knowing sucks. If you can put a name on her illness, you can start treating it and dealing with it better.

It's only a simple blood test... tell her doc to get it done! Best of luck to you, I hope you can get some answers soon.

 

[Sevenstars]

There was NO known CF history in my family before me. Not a single person on either side. So yes, I'll agree with Mel and say push for the full panel test. Like you said, not knowing sucks. If you can put a name on her illness, you can start treating it and dealing with it better.

It's only a simple blood test... tell her doc to get it done! Best of luck to you, I hope you can get some answers soon.

 

[Sevenstars]

There was NO known CF history in my family before me. Not a single person on either side. So yes, I'll agree with Mel and say push for the full panel test. Like you said, not knowing sucks. If you can put a name on her illness, you can start treating it and dealing with it better.

It's only a simple blood test... tell her doc to get it done! Best of luck to you, I hope you can get some answers soon.

 

[Sevenstars]

There was NO known CF history in my family before me. Not a single person on either side. So yes, I'll agree with Mel and say push for the full panel test. Like you said, not knowing sucks. If you can put a name on her illness, you can start treating it and dealing with it better.

It's only a simple blood test... tell her doc to get it done! Best of luck to you, I hope you can get some answers soon.

 

[Sevenstars]

There was NO known CF history in my family before me. Not a single person on either side. So yes, I'll agree with Mel and say push for the full panel test. Like you said, not knowing sucks. If you can put a name on her illness, you can start treating it and dealing with it better.
<br />
<br />It's only a simple blood test... tell her doc to get it done! Best of luck to you, I hope you can get some answers soon.

 

[Munkeesmama]

So far the lung damage has been attributed to premaruity, but she's 2 now and even the simplest cold turns into an ear infection and/or pnuemonia. It seems her lungs should have some healing from now. We're switching insurance companies and switching doctors, hopefully we'll be able to pursuade the doctor to do the full panel. either way she will have the sweat test. Knowing her current doctor if her numbers are anything under 40 in the normal range she won't do the testing. Weve been pushing for the full panel and she finally conceeded to the basic, so we'll see. this sucks.

 

[Munkeesmama]

So far the lung damage has been attributed to premaruity, but she's 2 now and even the simplest cold turns into an ear infection and/or pnuemonia. It seems her lungs should have some healing from now. We're switching insurance companies and switching doctors, hopefully we'll be able to pursuade the doctor to do the full panel. either way she will have the sweat test. Knowing her current doctor if her numbers are anything under 40 in the normal range she won't do the testing. Weve been pushing for the full panel and she finally conceeded to the basic, so we'll see. this sucks.

 

[Munkeesmama]

So far the lung damage has been attributed to premaruity, but she's 2 now and even the simplest cold turns into an ear infection and/or pnuemonia. It seems her lungs should have some healing from now. We're switching insurance companies and switching doctors, hopefully we'll be able to pursuade the doctor to do the full panel. either way she will have the sweat test. Knowing her current doctor if her numbers are anything under 40 in the normal range she won't do the testing. Weve been pushing for the full panel and she finally conceeded to the basic, so we'll see. this sucks.

 

[Munkeesmama]

So far the lung damage has been attributed to premaruity, but she's 2 now and even the simplest cold turns into an ear infection and/or pnuemonia. It seems her lungs should have some healing from now. We're switching insurance companies and switching doctors, hopefully we'll be able to pursuade the doctor to do the full panel. either way she will have the sweat test. Knowing her current doctor if her numbers are anything under 40 in the normal range she won't do the testing. Weve been pushing for the full panel and she finally conceeded to the basic, so we'll see. this sucks.

 

[Munkeesmama]

So far the lung damage has been attributed to premaruity, but she's 2 now and even the simplest cold turns into an ear infection and/or pnuemonia. It seems her lungs should have some healing from now. We're switching insurance companies and switching doctors, hopefully we'll be able to pursuade the doctor to do the full panel. either way she will have the sweat test. Knowing her current doctor if her numbers are anything under 40 in the normal range she won't do the testing. Weve been pushing for the full panel and she finally conceeded to the basic, so we'll see. this sucks.