Going to back to pulmo.....help with questions plz!

K

kaylinsmom

Member
Hi,

It's me again. I am truly very thankful for you guys! Okay, we are going back to Kaylins pulmo on the 14th and I am going to ask him about ambry. She had a genetic test done at mayo and they found 1 mutation. But, as you all know, that just raised red flags for me! She has all of the resp. issues, which have been diagnosed as severe asthma. She has gi issues which we did the fecal test and it came back normal. She is currently just the past 2 days, having diahrea and vomitting with fever. Her poop is oily and it has been teal blue, green and brown with specks of blue before. I guess my question is what else should I ask the doctor about? She has had a sinus ct and a stomach xray. The ct was normal and her stomach picture showed she had "stuff" backed up in her. They put her on miralax and prevacid which def. seemed to help somewhat. This was all done in June. Thanks in advance! Erin
Another thing, she sweats so much at night. Is that normal? Her sweat tests were 30 and 44 so she does taste a little salty.
 
K

kaylinsmom

Member
Hi,

It's me again. I am truly very thankful for you guys! Okay, we are going back to Kaylins pulmo on the 14th and I am going to ask him about ambry. She had a genetic test done at mayo and they found 1 mutation. But, as you all know, that just raised red flags for me! She has all of the resp. issues, which have been diagnosed as severe asthma. She has gi issues which we did the fecal test and it came back normal. She is currently just the past 2 days, having diahrea and vomitting with fever. Her poop is oily and it has been teal blue, green and brown with specks of blue before. I guess my question is what else should I ask the doctor about? She has had a sinus ct and a stomach xray. The ct was normal and her stomach picture showed she had "stuff" backed up in her. They put her on miralax and prevacid which def. seemed to help somewhat. This was all done in June. Thanks in advance! Erin
Another thing, she sweats so much at night. Is that normal? Her sweat tests were 30 and 44 so she does taste a little salty.
 
K

kaylinsmom

Member
Hi,
<br />
<br />It's me again. I am truly very thankful for you guys! Okay, we are going back to Kaylins pulmo on the 14th and I am going to ask him about ambry. She had a genetic test done at mayo and they found 1 mutation. But, as you all know, that just raised red flags for me! She has all of the resp. issues, which have been diagnosed as severe asthma. She has gi issues which we did the fecal test and it came back normal. She is currently just the past 2 days, having diahrea and vomitting with fever. Her poop is oily and it has been teal blue, green and brown with specks of blue before. I guess my question is what else should I ask the doctor about? She has had a sinus ct and a stomach xray. The ct was normal and her stomach picture showed she had "stuff" backed up in her. They put her on miralax and prevacid which def. seemed to help somewhat. This was all done in June. Thanks in advance! Erin
<br />Another thing, she sweats so much at night. Is that normal? Her sweat tests were 30 and 44 so she does taste a little salty.
 
R

Ratatosk

Administrator
Staff member
Ask if they'll do a throat/sputum culture to see if she's growing any cf bugs such as pseudomonas, steno. malotophilia....

Ask them for more extensive testing -- ambry amplified and if he says no ask him to write that in her file that parent requested further testing and that he refused because....
 
R

Ratatosk

Administrator
Staff member
Ask if they'll do a throat/sputum culture to see if she's growing any cf bugs such as pseudomonas, steno. malotophilia....

Ask them for more extensive testing -- ambry amplified and if he says no ask him to write that in her file that parent requested further testing and that he refused because....
 
R

Ratatosk

Administrator
Staff member
Ask if they'll do a throat/sputum culture to see if she's growing any cf bugs such as pseudomonas, steno. malotophilia....
<br />
<br />Ask them for more extensive testing -- ambry amplified and if he says no ask him to write that in her file that parent requested further testing and that he refused because....
 
J

jmom

New member
Kaylins mom-
Even though the fecal fat test came back negative for your daughter, that doesn't mean she doesn't have some fat malabsorption. My daughter had a positive test for fecal fat, and then a negative one. Talk about confusing and inconsistent! Was the one you did the 72 hour one or just the simple one time collection. I am wondering if you can have a false positive on the simple test. I don't think so, but I'm not sure.
My daughter's sweat tests were 32/33 like one of yours. When we got our medical records on my daughter's sweat test, it said, and I quote, "As of March, 2010, according to new CF guidelines, we recommend repeating a negative sweat test if symptoms persist." Keep this in mind, and definitely try for the Ambry genetics.
We're very frustrated right now, because insurance denied us authorization for this test before ever giving us a chance to get the GI doctor's cover letter of medical necessity to them. We are in the process of appeal and grievance.
 
J

jmom

New member
Kaylins mom-
Even though the fecal fat test came back negative for your daughter, that doesn't mean she doesn't have some fat malabsorption. My daughter had a positive test for fecal fat, and then a negative one. Talk about confusing and inconsistent! Was the one you did the 72 hour one or just the simple one time collection. I am wondering if you can have a false positive on the simple test. I don't think so, but I'm not sure.
My daughter's sweat tests were 32/33 like one of yours. When we got our medical records on my daughter's sweat test, it said, and I quote, "As of March, 2010, according to new CF guidelines, we recommend repeating a negative sweat test if symptoms persist." Keep this in mind, and definitely try for the Ambry genetics.
We're very frustrated right now, because insurance denied us authorization for this test before ever giving us a chance to get the GI doctor's cover letter of medical necessity to them. We are in the process of appeal and grievance.
 
J

jmom

New member
Kaylins mom-
<br /> Even though the fecal fat test came back negative for your daughter, that doesn't mean she doesn't have some fat malabsorption. My daughter had a positive test for fecal fat, and then a negative one. Talk about confusing and inconsistent! Was the one you did the 72 hour one or just the simple one time collection. I am wondering if you can have a false positive on the simple test. I don't think so, but I'm not sure.
<br /> My daughter's sweat tests were 32/33 like one of yours. When we got our medical records on my daughter's sweat test, it said, and I quote, "As of March, 2010, according to new CF guidelines, we recommend repeating a negative sweat test if symptoms persist." Keep this in mind, and definitely try for the Ambry genetics.
<br /> We're very frustrated right now, because insurance denied us authorization for this test before ever giving us a chance to get the GI doctor's cover letter of medical necessity to them. We are in the process of appeal and grievance.
 
K

kaylinsmom

Member
The fecal test we did was just the simple one. And I dont know the actual number. They just said it was in the normal range. The sweat test were done at different times. The first was 30 so we went back 2 days later and they did it again and it was 44. Should they do another since the numbers were so far apart? Kaylin has had diahrea for 3 days and serious cramping with fever. Im sure its just a bug but she cant stand to loose anymore weight. She is almost 8 and only weighs 50 pounds. She is about 50% for her height. Her pulmo said if she doesnt get any better on the miralax and prevacid then we will go see a gi specialist. I think I am going to request that on the 14th. This has been one heck of a year! Thanks for responding.
 
K

kaylinsmom

Member
The fecal test we did was just the simple one. And I dont know the actual number. They just said it was in the normal range. The sweat test were done at different times. The first was 30 so we went back 2 days later and they did it again and it was 44. Should they do another since the numbers were so far apart? Kaylin has had diahrea for 3 days and serious cramping with fever. Im sure its just a bug but she cant stand to loose anymore weight. She is almost 8 and only weighs 50 pounds. She is about 50% for her height. Her pulmo said if she doesnt get any better on the miralax and prevacid then we will go see a gi specialist. I think I am going to request that on the 14th. This has been one heck of a year! Thanks for responding.
 
K

kaylinsmom

Member
The fecal test we did was just the simple one. And I dont know the actual number. They just said it was in the normal range. The sweat test were done at different times. The first was 30 so we went back 2 days later and they did it again and it was 44. Should they do another since the numbers were so far apart? Kaylin has had diahrea for 3 days and serious cramping with fever. Im sure its just a bug but she cant stand to loose anymore weight. She is almost 8 and only weighs 50 pounds. She is about 50% for her height. Her pulmo said if she doesnt get any better on the miralax and prevacid then we will go see a gi specialist. I think I am going to request that on the 14th. This has been one heck of a year! Thanks for responding.
 
K

kaylinsmom

Member
oh and know she has started with a nonproductive cough as of yesterday. Her peak flow is in the yellow but I amd guessing its because she is so weak.
 
K

kaylinsmom

Member
oh and know she has started with a nonproductive cough as of yesterday. Her peak flow is in the yellow but I amd guessing its because she is so weak.
 
K

kaylinsmom

Member
oh and know she has started with a nonproductive cough as of yesterday. Her peak flow is in the yellow but I amd guessing its because she is so weak.
 
J

jmom

New member
So, so sorry your daughter is not feeling well. A lot of parents in this forum know more than I do; I don't have a diagnosis yet for my daughter. But I have been through a lot of tests with her and have done a ton of research. (I'm a science major, too, so I love research! Ha, ha...watch out, doctors!) So, in my non-expertise opinion, my gut feeling is that you should not yet dismiss CF from your mind. Not at all. One mutation is, like you said, a red flag. The other may yet to be discovered. Concerning the fecal fat, like I said, my daughter had one positive and one negative. We were sent to Stanford and that doc said she doesn't trust this test. If you don't eat enough fat in the days before the test, the fat malabsorption will not show up. Mention this to your GI.
When my daughter got her sweat test results of 32/33, we did a repeat test too, and the number came out at 18. I said to myself, this value dropped by almost half! This makes no sense, because if on a whim it can drop by half one day and we are certain she has no CF, then how do we know that on a different day the value may raise by that much and now we are in the range of considering CF as the disease my daughter has. All on a whim depending on the day???! This makes no sense to me. So I researched the allowable coefficient of variation, and found that ideally sweat test values shouldn't vary by more than 3-5%. But they sometimes do. This shows how unreliable the test is. Again, Stanford said it's not the greatest of tests. Sometimes it depends on which technician is doing the test.
Can I ask a side question to anyone out there again. Does anyone know whether a fat malabsorption test can come out positive but really there is no fat malabsorption problem?
My insurance still won't cover my genetic test.
Kaylin's mom - hang in there and know we're rooting for you and your daughter!!!
 
J

jmom

New member
So, so sorry your daughter is not feeling well. A lot of parents in this forum know more than I do; I don't have a diagnosis yet for my daughter. But I have been through a lot of tests with her and have done a ton of research. (I'm a science major, too, so I love research! Ha, ha...watch out, doctors!) So, in my non-expertise opinion, my gut feeling is that you should not yet dismiss CF from your mind. Not at all. One mutation is, like you said, a red flag. The other may yet to be discovered. Concerning the fecal fat, like I said, my daughter had one positive and one negative. We were sent to Stanford and that doc said she doesn't trust this test. If you don't eat enough fat in the days before the test, the fat malabsorption will not show up. Mention this to your GI.
When my daughter got her sweat test results of 32/33, we did a repeat test too, and the number came out at 18. I said to myself, this value dropped by almost half! This makes no sense, because if on a whim it can drop by half one day and we are certain she has no CF, then how do we know that on a different day the value may raise by that much and now we are in the range of considering CF as the disease my daughter has. All on a whim depending on the day???! This makes no sense to me. So I researched the allowable coefficient of variation, and found that ideally sweat test values shouldn't vary by more than 3-5%. But they sometimes do. This shows how unreliable the test is. Again, Stanford said it's not the greatest of tests. Sometimes it depends on which technician is doing the test.
Can I ask a side question to anyone out there again. Does anyone know whether a fat malabsorption test can come out positive but really there is no fat malabsorption problem?
My insurance still won't cover my genetic test.
Kaylin's mom - hang in there and know we're rooting for you and your daughter!!!
 
J

jmom

New member
So, so sorry your daughter is not feeling well. A lot of parents in this forum know more than I do; I don't have a diagnosis yet for my daughter. But I have been through a lot of tests with her and have done a ton of research. (I'm a science major, too, so I love research! Ha, ha...watch out, doctors!) So, in my non-expertise opinion, my gut feeling is that you should not yet dismiss CF from your mind. Not at all. One mutation is, like you said, a red flag. The other may yet to be discovered. Concerning the fecal fat, like I said, my daughter had one positive and one negative. We were sent to Stanford and that doc said she doesn't trust this test. If you don't eat enough fat in the days before the test, the fat malabsorption will not show up. Mention this to your GI.
<br /> When my daughter got her sweat test results of 32/33, we did a repeat test too, and the number came out at 18. I said to myself, this value dropped by almost half! This makes no sense, because if on a whim it can drop by half one day and we are certain she has no CF, then how do we know that on a different day the value may raise by that much and now we are in the range of considering CF as the disease my daughter has. All on a whim depending on the day???! This makes no sense to me. So I researched the allowable coefficient of variation, and found that ideally sweat test values shouldn't vary by more than 3-5%. But they sometimes do. This shows how unreliable the test is. Again, Stanford said it's not the greatest of tests. Sometimes it depends on which technician is doing the test.
<br /> Can I ask a side question to anyone out there again. Does anyone know whether a fat malabsorption test can come out positive but really there is no fat malabsorption problem?
<br />My insurance still won't cover my genetic test.
<br />Kaylin's mom - hang in there and know we're rooting for you and your daughter!!!
 
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