mbarloewen
New member
Hello,
My wife and I just had our first child and our daughter had Meconium Illeous at birth that required surgery. We just got the final genetic testing back yesterday that confirms a diagnosis of CF as she has one copy of the delta f508 mutation (which appears to be the most common and one I've found tons of discussion on) and also one copy of a mutation called 186 deletion T. This mutation I can find very little information on.
We were very shocked to learn our daughter has CF because we've no history of it in our family histories as far back as we know. So we are both trying to educate ourselves as quickly as we can.
We are being referred to the treatment center at Childrens Hospital in Los Angeles as well as referals to various gasto-intestinal, pulinary and genetic specialists, but it seems like it might be a few days before we see them.
In the meantime, I guess I'm wondering a few things...
1) Is there any connection between what mutated genes you have and the symptoms you experience?
2) Is there anywhere on the web or elsewhere that I can find information about the 186 deletion T mutation? Anyone here have any experience with this mutation?
I've been reading through this discussion forum and I find it heartening and I would very much appreciate the feedback of the community on the above questions.
Sincerely,
Mike Barloewen
My wife and I just had our first child and our daughter had Meconium Illeous at birth that required surgery. We just got the final genetic testing back yesterday that confirms a diagnosis of CF as she has one copy of the delta f508 mutation (which appears to be the most common and one I've found tons of discussion on) and also one copy of a mutation called 186 deletion T. This mutation I can find very little information on.
We were very shocked to learn our daughter has CF because we've no history of it in our family histories as far back as we know. So we are both trying to educate ourselves as quickly as we can.
We are being referred to the treatment center at Childrens Hospital in Los Angeles as well as referals to various gasto-intestinal, pulinary and genetic specialists, but it seems like it might be a few days before we see them.
In the meantime, I guess I'm wondering a few things...
1) Is there any connection between what mutated genes you have and the symptoms you experience?
2) Is there anywhere on the web or elsewhere that I can find information about the 186 deletion T mutation? Anyone here have any experience with this mutation?
I've been reading through this discussion forum and I find it heartening and I would very much appreciate the feedback of the community on the above questions.
Sincerely,
Mike Barloewen