HappyHearts
New member
Hi,
I've searched R117H here and I'm not sure if what I am reading matches up to what I am working with.
We found out when I was 20weeks pregnant that I was a Delta F508 carrier. We then had my husband tested and his paperwork was returned as a R117H carrier with "7T/7T". The paperwork goes on to explain that 5T is not good but maybe 7T is ok? I'm a little confused. Everything I read says something about 7H/7T but my paperwork simply says 7T/7T.
DD has passed both sweat chloride tests and I intend to have a DNA analysis done when she's older just to confirm and to know which mutation she carries.
At the time my husband and I had decided to not have any more children and it's a decision I am really having a hard time with. Especially when trying to interpret all this paperwork and online info I am finding. And in researching and not having the info match up I'm just confused.
Any clarification appreciated. Thanks in advance! <img src="i/expressions/face-icon-small-smile.gif" border="0">
ETA: I see a lot of combinations where people have DF508 and R117H but they seem to have 5T or 9T and I wasn't sure if the outcome was any better for a 7T. I found this chart that made things even more confusing for me:
Positive for Classic CF mutation, Positive for R117H 7T Females - Asymptomatic, Males - Variant CF to CBAVD
(on page 2 <a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_PolyT_TG_Tracts.pdf">here</a>
I've searched R117H here and I'm not sure if what I am reading matches up to what I am working with.
We found out when I was 20weeks pregnant that I was a Delta F508 carrier. We then had my husband tested and his paperwork was returned as a R117H carrier with "7T/7T". The paperwork goes on to explain that 5T is not good but maybe 7T is ok? I'm a little confused. Everything I read says something about 7H/7T but my paperwork simply says 7T/7T.
DD has passed both sweat chloride tests and I intend to have a DNA analysis done when she's older just to confirm and to know which mutation she carries.
At the time my husband and I had decided to not have any more children and it's a decision I am really having a hard time with. Especially when trying to interpret all this paperwork and online info I am finding. And in researching and not having the info match up I'm just confused.
Any clarification appreciated. Thanks in advance! <img src="i/expressions/face-icon-small-smile.gif" border="0">
ETA: I see a lot of combinations where people have DF508 and R117H but they seem to have 5T or 9T and I wasn't sure if the outcome was any better for a 7T. I found this chart that made things even more confusing for me:
Positive for Classic CF mutation, Positive for R117H 7T Females - Asymptomatic, Males - Variant CF to CBAVD
(on page 2 <a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_PolyT_TG_Tracts.pdf">here</a>