Two borderline sweat chloride test and family history of CF

M

Mistyjo

New member
Hello, I hope it's ok since I don't have CF that I ask a few questions.  My 5 yr daughter recently had two sweat chloride test, the first one was 41 and the second was 50.  Our pediatrician wants her to see a CF specialist and have more testing.  What brought about testing was her GI probs.  She has had chronic constipation since birth, diagnosed failure to thrive twice.  She has had some respiratory infections mostly the first 2 1/2 yrs now she only has problems with croup from time to time.  She's had croup about 7 seven times.  She has no chronic cough.  I was told that I'm not a carrier of 32 of the most common mutations but I know there are a lot more than 32.  There is a family history, my Mom's cousin had CF.  She was diagnosed late with positive sweat chloride and genetic testing. 
My question is what are the chances that she really has CF?  I almost didn't let them test her b/c I thought there was no way it could be CF.  Has anyone else had two borderline sweat chloride test and have CF?
Thanks for any advice and help.  Misty
 
M

Mistyjo

New member
Hello, I hope it's ok since I don't have CF that I ask a few questions. My 5 yr daughter recently had two sweat chloride test, the first one was 41 and the second was 50. Our pediatrician wants her to see a CF specialist and have more testing. What brought about testing was her GI probs. She has had chronic constipation since birth, diagnosed failure to thrive twice. She has had some respiratory infections mostly the first 2 1/2 yrs now she only has problems with croup from time to time. She's had croup about 7 seven times.She has no chronic cough. I was told that I'm not a carrier of 32 of the most common mutations but I know there are a lot more than 32. There is a family history, my Mom's cousin had CF. She was diagnosed late with positive sweat chloride and genetic testing.
My question is what are the chances that she really has CF? I almost didn't let them test her b/c I thought there was no way it could be CF. Has anyone else had two borderline sweat chloride test and have CF?
Thanks for any advice and help. Misty
 
M

Mistyjo

New member
<p>Hello, I hope it's ok since I don't have CF that I ask a few questions. My 5 yr daughter recently had two sweat chloride test, the first one was 41 and the second was 50. Our pediatrician wants her to see a CF specialist and have more testing. What brought about testing was her GI probs. She has had chronic constipation since birth, diagnosed failure to thrive twice. She has had some respiratory infections mostly the first 2 1/2 yrs now she only has problems with croup from time to time. She's had croup about 7 seven times.She has no chronic cough. I was told that I'm not a carrier of 32 of the most common mutations but I know there are a lot more than 32. There is a family history, my Mom's cousin had CF. She was diagnosed late with positive sweat chloride and genetic testing.
<p>My question is what are the chances that she really has CF? I almost didn't let them test her b/c I thought there was no way it could be CF. Has anyone else had two borderline sweat chloride test and have CF?
<p>Thanks for any advice and help. Misty
 
R

Ratatosk

Administrator
Staff member
Being there are over 1500 mutations for cf, you won't know for sure unless they test for more mutations.  DS' sweat test as a baby was 32; however, genetic tests found cf with a basic cf panel -- 90 or so of the most common mutations from Mayo.
 
R

Ratatosk

Administrator
Staff member
Being there are over 1500 mutations for cf, you won't know for sure unless they test for more mutations. DS' sweat test as a baby was 32; however, genetic tests found cf with a basic cf panel -- 90 or so of the most common mutations from Mayo.
 
R

Ratatosk

Administrator
Staff member
<p>Being there are over 1500 mutations for cf, you won't know for sure unless they test for more mutations. DS' sweat test as a baby was 32; however, genetic tests found cf with a basic cf panel -- 90 or so of the most common mutations from Mayo.
 
H

Havoc

New member
Yes, sweat tests, by themselves, are not conclusive enough for a diagnosis.  You daughter needs to have genetic screening to rule out or confirm CF.  While I hope she doesn't have CF, if she does at least you'll know and be able to treat her appropriately.
 
H

Havoc

New member
Yes, sweat tests, by themselves, are not conclusive enough for a diagnosis. You daughter needs to have genetic screening to rule out or confirm CF. While I hope she doesn't have CF, if she does at least you'll know and be able to treat her appropriately.
 
H

Havoc

New member
<p>Yes, sweat tests, by themselves, are not conclusive enough for a diagnosis. You daughter needs to have genetic screening to rule out or confirm CF. While I hope she doesn't have CF, if she does at least you'll know and be able to treat her appropriately.
 
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