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Question specific to those diagnosed as adults?

H

H2OSPORTSMOM

New member
The CF Center I went to said that the first two tests were not done at a CF Center and that they were not adequate for diagnosis. I think at that point he thought his test at the center would be negative. Like I said my son looks very healthy. It was later on in the day after leaving the CF Center that they called and told us his test was 55 with them and that they wanted to check for 70 most common genes. They did say that out of approx. 500 patients they have two that have tested positive but currently have no lung involvememt. Again on the tests and the procedure of doing them there was very little diference in the two hospitals collection of sweat. The first gathered it on a little tube and the CF Center gathered it on gauze. In my opinion sweat is sweat. Is there any one out there that was first tested for the common 70 and neg. but further gene tests were positive ? Or any one who just has variant genes if that is possible?
 
H

H2OSPORTSMOM

New member
The CF Center I went to said that the first two tests were not done at a CF Center and that they were not adequate for diagnosis. I think at that point he thought his test at the center would be negative. Like I said my son looks very healthy. It was later on in the day after leaving the CF Center that they called and told us his test was 55 with them and that they wanted to check for 70 most common genes. They did say that out of approx. 500 patients they have two that have tested positive but currently have no lung involvememt. Again on the tests and the procedure of doing them there was very little diference in the two hospitals collection of sweat. The first gathered it on a little tube and the CF Center gathered it on gauze. In my opinion sweat is sweat. Is there any one out there that was first tested for the common 70 and neg. but further gene tests were positive ? Or any one who just has variant genes if that is possible?
 
H

H2OSPORTSMOM

New member
bonniebaby thanks so much for your comments. I kinda know in my heart he is not severe . I have stressed this to my docs. One which I am no longer with. I do feel that he needs to be tested for more of the variants. He was neg. for 70 common. However his results read .... result does not exclude a diagnosis of CF. It is possible that this patient has one or even two mutation(s) not detected by this test. Later after listing the 70 tested for it reads....Variants available for testing are intron 8 5/7/9T (reflex) from R117H), I148T,I506V,I507V F508C. I can't wait to discuss this with my docs, but it seems to me that he is negative but could have variants of some kind if further testing is done. I plan to request just that. I am a firm believer up preventative measures when it comes to especially my childrens health. I have had medically necessary bi lateral mastectomies, because of information I discovered after being in a Breast Cancer Study for several years. I didn't have BRCA gene but could possibly have a gene not found yet according to my docs. I was a time bomb of breats cancer grandmother, mother but breast cancer another sister like me had bi lateral surgery when I did. We are so blessed to have been spared the terrible death of our mother. I will not stop until I have answers for my son. It is so good to have you identify ! Thanks !!!!
 
H

H2OSPORTSMOM

New member
bonniebaby thanks so much for your comments. I kinda know in my heart he is not severe . I have stressed this to my docs. One which I am no longer with. I do feel that he needs to be tested for more of the variants. He was neg. for 70 common. However his results read .... result does not exclude a diagnosis of CF. It is possible that this patient has one or even two mutation(s) not detected by this test. Later after listing the 70 tested for it reads....Variants available for testing are intron 8 5/7/9T (reflex) from R117H), I148T,I506V,I507V F508C. I can't wait to discuss this with my docs, but it seems to me that he is negative but could have variants of some kind if further testing is done. I plan to request just that. I am a firm believer up preventative measures when it comes to especially my childrens health. I have had medically necessary bi lateral mastectomies, because of information I discovered after being in a Breast Cancer Study for several years. I didn't have BRCA gene but could possibly have a gene not found yet according to my docs. I was a time bomb of breats cancer grandmother, mother but breast cancer another sister like me had bi lateral surgery when I did. We are so blessed to have been spared the terrible death of our mother. I will not stop until I have answers for my son. It is so good to have you identify ! Thanks !!!!
 
H

H2OSPORTSMOM

New member
bonniebaby thanks so much for your comments. I kinda know in my heart he is not severe . I have stressed this to my docs. One which I am no longer with. I do feel that he needs to be tested for more of the variants. He was neg. for 70 common. However his results read .... result does not exclude a diagnosis of CF. It is possible that this patient has one or even two mutation(s) not detected by this test. Later after listing the 70 tested for it reads....Variants available for testing are intron 8 5/7/9T (reflex) from R117H), I148T,I506V,I507V F508C. I can't wait to discuss this with my docs, but it seems to me that he is negative but could have variants of some kind if further testing is done. I plan to request just that. I am a firm believer up preventative measures when it comes to especially my childrens health. I have had medically necessary bi lateral mastectomies, because of information I discovered after being in a Breast Cancer Study for several years. I didn't have BRCA gene but could possibly have a gene not found yet according to my docs. I was a time bomb of breats cancer grandmother, mother but breast cancer another sister like me had bi lateral surgery when I did. We are so blessed to have been spared the terrible death of our mother. I will not stop until I have answers for my son. It is so good to have you identify ! Thanks !!!!
 
H

H2OSPORTSMOM

New member
bonniebaby thanks so much for your comments. I kinda know in my heart he is not severe . I have stressed this to my docs. One which I am no longer with. I do feel that he needs to be tested for more of the variants. He was neg. for 70 common. However his results read .... result does not exclude a diagnosis of CF. It is possible that this patient has one or even two mutation(s) not detected by this test. Later after listing the 70 tested for it reads....Variants available for testing are intron 8 5/7/9T (reflex) from R117H), I148T,I506V,I507V F508C. I can't wait to discuss this with my docs, but it seems to me that he is negative but could have variants of some kind if further testing is done. I plan to request just that. I am a firm believer up preventative measures when it comes to especially my childrens health. I have had medically necessary bi lateral mastectomies, because of information I discovered after being in a Breast Cancer Study for several years. I didn't have BRCA gene but could possibly have a gene not found yet according to my docs. I was a time bomb of breats cancer grandmother, mother but breast cancer another sister like me had bi lateral surgery when I did. We are so blessed to have been spared the terrible death of our mother. I will not stop until I have answers for my son. It is so good to have you identify ! Thanks !!!!
 
H

H2OSPORTSMOM

New member
bonniebaby thanks so much for your comments. I kinda know in my heart he is not severe . I have stressed this to my docs. One which I am no longer with. I do feel that he needs to be tested for more of the variants. He was neg. for 70 common. However his results read .... result does not exclude a diagnosis of CF. It is possible that this patient has one or even two mutation(s) not detected by this test. Later after listing the 70 tested for it reads....Variants available for testing are intron 8 5/7/9T (reflex) from R117H), I148T,I506V,I507V F508C. I can't wait to discuss this with my docs, but it seems to me that he is negative but could have variants of some kind if further testing is done. I plan to request just that. I am a firm believer up preventative measures when it comes to especially my childrens health. I have had medically necessary bi lateral mastectomies, because of information I discovered after being in a Breast Cancer Study for several years. I didn't have BRCA gene but could possibly have a gene not found yet according to my docs. I was a time bomb of breats cancer grandmother, mother but breast cancer another sister like me had bi lateral surgery when I did. We are so blessed to have been spared the terrible death of our mother. I will not stop until I have answers for my son. It is so good to have you identify ! Thanks !!!!
 
H

H2OSPORTSMOM

New member
bonniebaby thanks so much for your comments. I kinda know in my heart he is not severe . I have stressed this to my docs. One which I am no longer with. I do feel that he needs to be tested for more of the variants. He was neg. for 70 common. However his results read .... result does not exclude a diagnosis of CF. It is possible that this patient has one or even two mutation(s) not detected by this test. Later after listing the 70 tested for it reads....Variants available for testing are intron 8 5/7/9T (reflex) from R117H), I148T,I506V,I507V F508C. I can't wait to discuss this with my docs, but it seems to me that he is negative but could have variants of some kind if further testing is done. I plan to request just that. I am a firm believer up preventative measures when it comes to especially my childrens health. I have had medically necessary bi lateral mastectomies, because of information I discovered after being in a Breast Cancer Study for several years. I didn't have BRCA gene but could possibly have a gene not found yet according to my docs. I was a time bomb of breats cancer grandmother, mother but breast cancer another sister like me had bi lateral surgery when I did. We are so blessed to have been spared the terrible death of our mother. I will not stop until I have answers for my son. It is so good to have you identify ! Thanks !!!!
 
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