We saw the CF specialist

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Mistyjo

New member
Jasey has had two borderline sweat test.  We saw the CF speicalist and he said he doesn't think she has it but he can't say that for sure so he ordered a lot of tests.  She did a lung function test, throat culture, blood work to check for gene mutations.  He also mentioned a nasal defferential(not sure that's the right name) and he wants a stool sample.  I'm glad he's doing a lot of test to make sure.  He was very interested in my family history.  My Mom's cousin had CF, my Mom and her sister had pulmonary fibrosis with terrible GI problems. 
Now we wait....
 
M

Mistyjo

New member
Jasey has had two borderline sweat test. We saw the CF speicalist and he said he doesn't think she has it but he can't say that for sure so he ordered a lot of tests. She did a lung function test, throat culture, blood work to check for gene mutations. He also mentioned a nasal defferential(not sure that's the right name) and he wants a stool sample. I'm glad he's doing a lot of test to make sure. He was very interested in my family history. My Mom's cousin had CF, my Mom and her sister had pulmonary fibrosis with terrible GI problems.
Now we wait....
 
M

Mistyjo

New member
<p>Jasey has had two borderline sweat test. We saw the CF speicalist and he said he doesn't think she has it but he can't say that for sure so he ordered a lot of tests. She did a lung function test, throat culture, blood work to check for gene mutations. He also mentioned a nasal defferential(not sure that's the right name) and he wants a stool sample. I'm glad he's doing a lot of test to make sure. He was very interested in my family history. My Mom's cousin had CF, my Mom and her sister had pulmonary fibrosis with terrible GI problems.
<p>Now we wait....
 
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Mommafirst

Guest
I'm sorry you have to go through this, but it sounds like your specialist is doing all the right things. Hang int here...being in limbo is tough.
 
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Mommafirst

Guest
I'm sorry you have to go through this, but it sounds like your specialist is doing all the right things. Hang int here...being in limbo is tough.
 
M

Mommafirst

Guest
I'm sorry you have to go through this, but it sounds like your specialist is doing all the right things. Hang int here...being in limbo is tough.
 
B

Beccamom

New member
Sorry to hear Cf is a possibility and that you are in limbo. On this site your are not alone. We are also in the diagnostic process and my daughter has done the Nasal Potential Difference testing which showed significant decrease in CFTR function even though she only had one known CF gene and therefore should be an unaffected CF carrier.
 
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Beccamom

New member
Sorry to hear Cf is a possibility and that you are in limbo. On this site your are not alone. We are also in the diagnostic process and my daughter has done the Nasal Potential Difference testing which showed significant decrease in CFTR function even though she only had one known CF gene and therefore should be an unaffected CF carrier.
 
B

Beccamom

New member
Sorry to hear Cf is a possibility and that you are in limbo. On this site your are not alone. We are also in the diagnostic process and my daughter has done the Nasal Potential Difference testing which showed significant decrease in CFTR function even though she only had one known CF gene and therefore should be an unaffected CF carrier.
 
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auntcob

New member
Hi--We went through a very similar process. Two borderline sweats in Feb. 2010 and got a definitive dx in Feb. 2011. DS does have two mutations but we were told by one CF clinic that they were "benign" --meaning they were asymptomatic. But--we started down this whole path because he was symptomatic. We went for second and third opinions. Both were a dx of "atypical CF." The folks at Hopkins, however, seem to be taking this dx more seriously that our previous clinic having DS do some preventative lung care. He is pancreatic insufficient and has relatively healthy lungs. His NPD showed that it is his chloride functioning that is pretty out of whack.

Sounds like you have a good team doing the right things. Best of luck!
 
A

auntcob

New member
Hi--We went through a very similar process. Two borderline sweats in Feb. 2010 and got a definitive dx in Feb. 2011. DS does have two mutations but we were told by one CF clinic that they were "benign" --meaning they were asymptomatic. But--we started down this whole path because he was symptomatic. We went for second and third opinions. Both were a dx of "atypical CF." The folks at Hopkins, however, seem to be taking this dx more seriously that our previous clinic having DS do some preventative lung care. He is pancreatic insufficient and has relatively healthy lungs. His NPD showed that it is his chloride functioning that is pretty out of whack.

Sounds like you have a good team doing the right things. Best of luck!
 
A

auntcob

New member
Hi--We went through a very similar process. Two borderline sweats in Feb. 2010 and got a definitive dx in Feb. 2011. DS does have two mutations but we were told by one CF clinic that they were "benign" --meaning they were asymptomatic. But--we started down this whole path because he was symptomatic. We went for second and third opinions. Both were a dx of "atypical CF." The folks at Hopkins, however, seem to be taking this dx more seriously that our previous clinic having DS do some preventative lung care. He is pancreatic insufficient and has relatively healthy lungs. His NPD showed that it is his chloride functioning that is pretty out of whack.
<br />
<br />Sounds like you have a good team doing the right things. Best of luck!
 
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Mistyjo

New member
Thanks so much for all the replies!!  I'm worried now b/c of her weight.  Her BMI was only 3% in Oct. then she weighed 34lbs.  They put her on periactin 2x/day and she gained almost 5lbs in 3 months!  They started the periactin after we saw a nutritionist and tried to help her gain weight for about 4 months and she gained nothing!  In the past two months she has lost 2lbs!  I really don't know what to think!
 
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Mistyjo

New member
Thanks so much for all the replies!! I'm worried now b/c of her weight. Her BMI was only 3% in Oct. then she weighed 34lbs. They put her on periactin 2x/day and she gained almost 5lbs in 3 months! They started the periactin after we saw a nutritionist and tried to help her gain weight for about 4 months and she gained nothing! In the past two months she has lost 2lbs! I really don't know what to think!
 
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Mistyjo

New member
<p>Thanks so much for all the replies!! I'm worried now b/c of her weight. Her BMI was only 3% in Oct. then she weighed 34lbs. They put her on periactin 2x/day and she gained almost 5lbs in 3 months! They started the periactin after we saw a nutritionist and tried to help her gain weight for about 4 months and she gained nothing! In the past two months she has lost 2lbs! I really don't know what to think!
 
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mommy2mickie

New member
I think I'm in the same boat you are, only we've been dealing with this in three different states for over three years now.  It started in Virginia when my daughter was 6....she had unexplained attacks, productive coughs, unexplained fevers, constantly sick with sinus infections, etc.  Her pulmonologist sent her for a sweat test out of curiosity and it came up borderline at 43.  In a 2 month period, she had three more, ranging from 41 to 53.  So we went to UVA, saw a great doctor, who decided to diagnose her with a mild form of CF. 
Well, upon moving down to Georgia, we saw a pediatric pulmonologist in Chattanooga, and he was a complete crock.  He retracted that diagnosis when her Ambry Genetics Test came back 7T/7T and said he didn't know what it was and sent us on our way....but only after doing a bronchoscopy on her and finding 3 different types of bacteria growing on her lungs. 
My daughter has just turned 9 and she's starting to get worse.  Constant coughing, yet she won't spit out what she coughs up, which makes it worse.  She can't go outside for more than 10 minutes without getting a very red face and she's on nebulizer treatments at least twice a day. We finally got referred to Emory CF children's clinic in Atlanta, who fortunately heard of her CF doctor up at UVA and the head of the department is willing to see her because she has such an unusual case.  We head down to Atlanta on Tuesday morning for a 5 hour appointment of blood draws, stool samples, and sweat tests.  I'm sad to say that she's getting used to it.  She's missed over 15 days of school this year, but it's becoming the norm and her teachers are very understanding.
I wish you the best and hopefully we can all figure out what's going on!  I just want my little girl to get better! <img src="i/expressions/face-icon-small-sad.gif" border="0">
 
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mommy2mickie

New member
I think I'm in the same boat you are, only we've been dealing with this in three different states for over three years now. It started in Virginia when my daughter was 6....she had unexplained attacks, productive coughs, unexplained fevers, constantly sick with sinus infections, etc. Her pulmonologist sent her for a sweat test out of curiosity and it came up borderline at 43. In a 2 month period, she had three more, ranging from 41 to 53. So we went to UVA, saw a great doctor, who decided to diagnose her with a mild form of CF.
Well, upon moving down to Georgia, we saw a pediatric pulmonologist in Chattanooga, and he was a complete crock. He retracted that diagnosis when her Ambry Genetics Test came back 7T/7T and said he didn't know what it was and sent us on our way....but only after doing a bronchoscopy on her and finding 3 different types of bacteria growing on her lungs.
My daughter has just turned 9and she's starting to get worse. Constant coughing, yet she won't spit out what she coughs up, which makes it worse. She can't go outside for more than 10 minutes without getting a very red face andshe's on nebulizer treatments at least twice a day.We finally got referred to Emory CF children's clinic in Atlanta, who fortunately heard of her CF doctor up at UVA and the head of the department is willing to see her because she has such an unusual case. We head down to Atlanta on Tuesday morning for a 5 hour appointment of blood draws, stool samples, and sweat tests. I'm sad to say that she's getting used to it. She's missed over 15 days of school this year, but it's becoming the norm and her teachers are very understanding.
I wish you the best and hopefully we can all figure out what's going on! I just want my little girl to get better! <img src="i/expressions/face-icon-small-sad.gif" border="0">
 
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