Recent content by kchapman

I'm so sorry you're going through a more classical presentation of CF, but it's good that you're putting the info out there, so that we people with this "mild" mutation set take better care of ourselves. As it's easier to prevent than to cure a progressive disease, anyone not feeling symptoms...

Also, with the heterozygous R117h, I believe it only affects those heterozygous with both R117h and the delta F508 mutations. I might be wrong, but I think if you're heterozygous with other mutations, the R117h isn't so bad. I have R117h with the delta F508 deletion.

I have these same exact mutations, and while I'm not a geneticist, I do understand a little bit about genes and about the prognosis ("mild CF" or CRMS). For heterozygous R117h mutation and it's relationship with the variants of the polythimidine tracts, the variants aren't on the same part of...

I have the same mutations, Delta f508 and r117h, with the 7T variant, and I'm taking Kalydeco. There are 3 variants of r117h, and usually there will be a 2nd genetic test done to determine which one you have. 5T is the worst, 7T is in the middle, and 9T is the lightest of the 3 variants...

I fall into this category, diagnosed with CRMS, with R117H & delta-F508, and I just started taking Kalydeco 3 weeks ago. Non-classical CF-related metabolic syndrome is still a serious problem, albeit it may hit you later in life. I'm almost 42 and didn't start having real concerns until a few...

Hi Tiffany, I'm a 41-year-old with these exact mutations, and I only started to get a mild chronic cough about 4 years ago, when I first tested positive for MAC/MAI bacteria. When I first posted on this forum, after I was genetically diagnosed during pregnancy, I reported that I was largely...

With only 1 CF mutation (most likely your case), it is possible have some pulmonary problems as a result, especially if its the delta-F508 mutation (CF gene is deleted in F508). There's recent research in this article: Single mutation in the cystic fibrosis transmembrane regulatory gene in...

With only 1 CF mutation (most likely your case), it is possible have some pulmonary problems as a result, especially if its the delta-F508 mutation (CF gene is deleted in F508). There's recent research in this article: Single mutation in the cystic fibrosis transmembrane regulatory gene in...

With only 1 CF mutation (most likely your case), it is possible have some pulmonary problems as a result, especially if its the delta-F508 mutation (CF gene is deleted in F508). There's recent research in this article: Single mutation in the cystic fibrosis transmembrane regulatory gene in...

With only 1 CF mutation (most likely your case), it is possible have some pulmonary problems as a result, especially if its the delta-F508 mutation (CF gene is deleted in F508). There's recent research in this article: Single mutation in the cystic fibrosis transmembrane regulatory gene in...

With only 1 CF mutation (most likely your case), it is possible have some pulmonary problems as a result, especially if its the delta-F508 mutation (CF gene is deleted in F508). There's recent research in this article: <br />Single mutation in the cystic fibrosis transmembrane regulatory gene...

This gene combination does not usually cause severe cases of CF, and a person with this can even be asymptomatic. My genetic counselor told me that the R117H mutation is a very weak one (causing lighter effects than others), and I've read that the 7T poly-T variant of this is a better one to...

This gene combination does not usually cause severe cases of CF, and a person with this can even be asymptomatic. My genetic counselor told me that the R117H mutation is a very weak one (causing lighter effects than others), and I've read that the 7T poly-T variant of this is a better one to...

This gene combination does not usually cause severe cases of CF, and a person with this can even be asymptomatic. My genetic counselor told me that the R117H mutation is a very weak one (causing lighter effects than others), and I've read that the 7T poly-T variant of this is a better one to...

This gene combination does not usually cause severe cases of CF. I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant. I had no known symptoms before, other than several weeks of bronchitis about every other year as...