Well - this is a very puzzling one. My husband and I knoew we were carriers as we were mandated by our fertility clinic to get tested. We had to go to a genetic councelor before continuing and we were told we have a "strange" mutation. delta508 and R117 (I may have left a digit off) anyway, we were ASSURED that if we did pass them both, it would be mild in the fact that prior to 5 years ago when they didn't do the newborn screen, we may never had known, and it would be dx like asthma. So we go on and have a little girl we named Abby. About 5 days after she was born, our pedi calls and said he needed to see us immediatly. It turns out Abby has the 2 genes. We immediatly get referred to the CF doctor, she got 2 sweat tests - 1st being borderline and the 2nd negative (something under 30), so the CF doc says they will watch her since it is such a unique mutation, but it will most likey be nothing. She turned one april 14th and a week before she kept getting a fever. The pedi sends her for a chest x-ray and it turns out double lower lobe infiltrates. The Cf doc looks and says it was most likely due to she had gotten tubes in her ears a week before and probably aspirated. He did a throat culture anyways. (I forgot - she had a throat culture at 6 months and it was negative). The throat culture comes back and he calls me at work on thursday and says that she tested positive for the psuedomonas a and now he is very puzzled as she has no other diagnosis' and he puts her on cipro orally x2weeks and she started TOBI nebs tonite for 28 days, to be proactive. We also have to start chest PT. We live in massachusetts and go to the UMASS Cf clinic, and there are only 4 children with Abby's mutation. They, of course are going to put her in a study. I am confused and angry and mourning , all at the same time. I am so glad I found this site. I am sorry this is so long. Monica
You are using an out of date browser. It may not display this or other websites correctly.
You should upgrade or use an alternative browser.
You should upgrade or use an alternative browser.
New dtr diagnosis
- Thread starter moni
- Start date
thefrogprincess
New member
You have every right to be angry. Maybe I misinterpretted your post but it sounds like the docs weren't totally honest with you about CF and what can happen.
This is a great forum for advice and venting because we've all been there. I hope everything works out and your daughter responds well to her meds. Just be aware that you have to be proactive with her health care. Just because they're doctors doesn't mean they know everything, and only you know your daughter best.
This is a great forum for advice and venting because we've all been there. I hope everything works out and your daughter responds well to her meds. Just be aware that you have to be proactive with her health care. Just because they're doctors doesn't mean they know everything, and only you know your daughter best.
Hi-
Sorry to hear that you are going through such a trying time. Since my daughter's diagnosis I have searched a lot of genetic info. R117H is indeed a CF genetic mutation. It is known to be a more mild gene defect and may produce negative or borderline sweat test results. However, if your daughter has DF508 and R117H she does have CF.
I recently searched R117H on Google and found this info that might be valuable to you:
The effects of the R117H genetic mutation depends on the presence or absence of the 5T variant. When the 5T variant in intron 8 of the CF gene is present on the same chromosome as R117H there is a more severe effect on CFTR production.
It suggests that if you are found to carry R117H, additional testing should be done to find out the presence or absence of the 5T variant.
I really don't know any more than this, but hopefully you can bring this to the attention of a doctor at an accreditted CF center. They should know more in detail. Hope this was helpful.
Maria (mother of three daughters, the youngest, Samantha w/cf)
Sorry to hear that you are going through such a trying time. Since my daughter's diagnosis I have searched a lot of genetic info. R117H is indeed a CF genetic mutation. It is known to be a more mild gene defect and may produce negative or borderline sweat test results. However, if your daughter has DF508 and R117H she does have CF.
I recently searched R117H on Google and found this info that might be valuable to you:
The effects of the R117H genetic mutation depends on the presence or absence of the 5T variant. When the 5T variant in intron 8 of the CF gene is present on the same chromosome as R117H there is a more severe effect on CFTR production.
It suggests that if you are found to carry R117H, additional testing should be done to find out the presence or absence of the 5T variant.
I really don't know any more than this, but hopefully you can bring this to the attention of a doctor at an accreditted CF center. They should know more in detail. Hope this was helpful.
Maria (mother of three daughters, the youngest, Samantha w/cf)
ive always been told that you dont know severity by mutations!!! i dont get how a genetic counsler and a dr can say ahead of time that it would be a mild form.. i think i would push for further testing and get to the bottom of whats going on.. maybe a second opinion..
Melissa mom to dylan 6 nocf and caleb 3wcf
Melissa mom to dylan 6 nocf and caleb 3wcf