anyone dx'd with CF without known mutations?

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emilyspeanut

New member
My son is 7 and he was diagnosed with us not knowing the mutations. From what I understand there are over 1500 mutations. My insurance company only approve to test fro 100 of them. Wht this will do I have no idea, but I dont have the money to do the testing o my own so I will have to wait until my appeal gets approved to test for them all. My sons sweat tests were all positive with one borderline, we had 4 done. I hope you find the answers you are looking for, nd I hope your son is feeling better very soon.
 
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emilyspeanut

New member
My son is 7 and he was diagnosed with us not knowing the mutations. From what I understand there are over 1500 mutations. My insurance company only approve to test fro 100 of them. Wht this will do I have no idea, but I dont have the money to do the testing o my own so I will have to wait until my appeal gets approved to test for them all. My sons sweat tests were all positive with one borderline, we had 4 done. I hope you find the answers you are looking for, nd I hope your son is feeling better very soon.
 
E

emilyspeanut

New member
My son is 7 and he was diagnosed with us not knowing the mutations. From what I understand there are over 1500 mutations. My insurance company only approve to test fro 100 of them. Wht this will do I have no idea, but I dont have the money to do the testing o my own so I will have to wait until my appeal gets approved to test for them all. My sons sweat tests were all positive with one borderline, we had 4 done. I hope you find the answers you are looking for, nd I hope your son is feeling better very soon.
 
E

emilyspeanut

New member
My son is 7 and he was diagnosed with us not knowing the mutations. From what I understand there are over 1500 mutations. My insurance company only approve to test fro 100 of them. Wht this will do I have no idea, but I dont have the money to do the testing o my own so I will have to wait until my appeal gets approved to test for them all. My sons sweat tests were all positive with one borderline, we had 4 done. I hope you find the answers you are looking for, nd I hope your son is feeling better very soon.
 
E

emilyspeanut

New member
My son is 7 and he was diagnosed with us not knowing the mutations. From what I understand there are over 1500 mutations. My insurance company only approve to test fro 100 of them. Wht this will do I have no idea, but I dont have the money to do the testing o my own so I will have to wait until my appeal gets approved to test for them all. My sons sweat tests were all positive with one borderline, we had 4 done. I hope you find the answers you are looking for, nd I hope your son is feeling better very soon.
 
A

asiewny

New member
Thank you all for your replies. He has gone through two antibiotics with no improvement in his lungs, so he had a chest xray and he is on breathing treatments and prednisone. Dr. said the xray was clear. Last year he went through all kinds of tests that determined that he does not have asthma and the dr. said that he doesn't hear wheezing, but his lungs are filled with mucus that he can't get rid of. What is it if it is not pnumonia or asthma then? He has improved with the breathing treatments and steroids, thank goodness. We go back to the dr on Monday and I don't know what they will do with him if he hasn't cleared up. I'll keep you updated.
 
A

asiewny

New member
Thank you all for your replies. He has gone through two antibiotics with no improvement in his lungs, so he had a chest xray and he is on breathing treatments and prednisone. Dr. said the xray was clear. Last year he went through all kinds of tests that determined that he does not have asthma and the dr. said that he doesn't hear wheezing, but his lungs are filled with mucus that he can't get rid of. What is it if it is not pnumonia or asthma then? He has improved with the breathing treatments and steroids, thank goodness. We go back to the dr on Monday and I don't know what they will do with him if he hasn't cleared up. I'll keep you updated.
 
A

asiewny

New member
Thank you all for your replies. He has gone through two antibiotics with no improvement in his lungs, so he had a chest xray and he is on breathing treatments and prednisone. Dr. said the xray was clear. Last year he went through all kinds of tests that determined that he does not have asthma and the dr. said that he doesn't hear wheezing, but his lungs are filled with mucus that he can't get rid of. What is it if it is not pnumonia or asthma then? He has improved with the breathing treatments and steroids, thank goodness. We go back to the dr on Monday and I don't know what they will do with him if he hasn't cleared up. I'll keep you updated.
 
A

asiewny

New member
Thank you all for your replies. He has gone through two antibiotics with no improvement in his lungs, so he had a chest xray and he is on breathing treatments and prednisone. Dr. said the xray was clear. Last year he went through all kinds of tests that determined that he does not have asthma and the dr. said that he doesn't hear wheezing, but his lungs are filled with mucus that he can't get rid of. What is it if it is not pnumonia or asthma then? He has improved with the breathing treatments and steroids, thank goodness. We go back to the dr on Monday and I don't know what they will do with him if he hasn't cleared up. I'll keep you updated.
 
A

asiewny

New member
Thank you all for your replies. He has gone through two antibiotics with no improvement in his lungs, so he had a chest xray and he is on breathing treatments and prednisone. Dr. said the xray was clear. Last year he went through all kinds of tests that determined that he does not have asthma and the dr. said that he doesn't hear wheezing, but his lungs are filled with mucus that he can't get rid of. What is it if it is not pnumonia or asthma then? He has improved with the breathing treatments and steroids, thank goodness. We go back to the dr on Monday and I don't know what they will do with him if he hasn't cleared up. I'll keep you updated.
 
B

Buckeye

New member
There are a few other tests they can do to help confirm or rule out CF. Some kids fall into the gray (grey??) area where everything points to CF yet the genetic test comes back with no known mutations.There is a Nasal Potential Difference test that is useful. Here is a link to an explanation about the test <a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinscf.org/main/whatiscf/diag_testnasal.html">LINK </a>. They could also do a CT Scan of his lungs which shows more information than just an x-ray. Also they may want to do a Bronchoscopy to get a look into the lungs and get a better sample than a sputum sample. The Bronch is a little invasive so not everyone wants to go that route though.Best of luck with the appointment on Monday. Hopefully they can get this figured out.
 
B

Buckeye

New member
There are a few other tests they can do to help confirm or rule out CF. Some kids fall into the gray (grey??) area where everything points to CF yet the genetic test comes back with no known mutations.There is a Nasal Potential Difference test that is useful. Here is a link to an explanation about the test <a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinscf.org/main/whatiscf/diag_testnasal.html">LINK </a>. They could also do a CT Scan of his lungs which shows more information than just an x-ray. Also they may want to do a Bronchoscopy to get a look into the lungs and get a better sample than a sputum sample. The Bronch is a little invasive so not everyone wants to go that route though.Best of luck with the appointment on Monday. Hopefully they can get this figured out.
 
B

Buckeye

New member
There are a few other tests they can do to help confirm or rule out CF. Some kids fall into the gray (grey??) area where everything points to CF yet the genetic test comes back with no known mutations.There is a Nasal Potential Difference test that is useful. Here is a link to an explanation about the test <a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinscf.org/main/whatiscf/diag_testnasal.html">LINK </a>. They could also do a CT Scan of his lungs which shows more information than just an x-ray. Also they may want to do a Bronchoscopy to get a look into the lungs and get a better sample than a sputum sample. The Bronch is a little invasive so not everyone wants to go that route though.Best of luck with the appointment on Monday. Hopefully they can get this figured out.
 
B

Buckeye

New member
There are a few other tests they can do to help confirm or rule out CF. Some kids fall into the gray (grey??) area where everything points to CF yet the genetic test comes back with no known mutations.There is a Nasal Potential Difference test that is useful. Here is a link to an explanation about the test <a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinscf.org/main/whatiscf/diag_testnasal.html">LINK </a>. They could also do a CT Scan of his lungs which shows more information than just an x-ray. Also they may want to do a Bronchoscopy to get a look into the lungs and get a better sample than a sputum sample. The Bronch is a little invasive so not everyone wants to go that route though.Best of luck with the appointment on Monday. Hopefully they can get this figured out.
 
B

Buckeye

New member
There are a few other tests they can do to help confirm or rule out CF. Some kids fall into the gray (grey??) area where everything points to CF yet the genetic test comes back with no known mutations.<p>There is a Nasal Potential Difference test that is useful. Here is a link to an explanation about the test <a target=_blank class=ftalternatingbarlinklarge href="http://www.hopkinscf.org/main/whatiscf/diag_testnasal.html">LINK </a>. They could also do a CT Scan of his lungs which shows more information than just an x-ray. Also they may want to do a Bronchoscopy to get a look into the lungs and get a better sample than a sputum sample. The Bronch is a little invasive so not everyone wants to go that route though.<p>Best of luck with the appointment on Monday. Hopefully they can get this figured out.
 
F

Fancymushroom

New member
Hi!

Sorry that your little one is ill and I really hope that whatever the cause, it's treated very soon.
Just to let you know, I have been diagnosed with no mutations (dx age 19) last year. I was tested for the top 100, but they never tested further as I have all the clinical stuff enough to diagnose and treat. X
 
F

Fancymushroom

New member
Hi!

Sorry that your little one is ill and I really hope that whatever the cause, it's treated very soon.
Just to let you know, I have been diagnosed with no mutations (dx age 19) last year. I was tested for the top 100, but they never tested further as I have all the clinical stuff enough to diagnose and treat. X
 
F

Fancymushroom

New member
Hi!

Sorry that your little one is ill and I really hope that whatever the cause, it's treated very soon.
Just to let you know, I have been diagnosed with no mutations (dx age 19) last year. I was tested for the top 100, but they never tested further as I have all the clinical stuff enough to diagnose and treat. X
 
F

Fancymushroom

New member
Hi!

Sorry that your little one is ill and I really hope that whatever the cause, it's treated very soon.
Just to let you know, I have been diagnosed with no mutations (dx age 19) last year. I was tested for the top 100, but they never tested further as I have all the clinical stuff enough to diagnose and treat. X
 
F

Fancymushroom

New member
Hi!
<br />
<br />Sorry that your little one is ill and I really hope that whatever the cause, it's treated very soon.
<br />Just to let you know, I have been diagnosed with no mutations (dx age 19) last year. I was tested for the top 100, but they never tested further as I have all the clinical stuff enough to diagnose and treat. X
 
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