I am a 43 yo female who has never had pneumonia or pancreatitis. i have never been in the hospital for any health issues. I go to work every day. my colds last a few days and clear up. I am active an go to the gym. Anyhow, i recently decided due to my advanced age, I wanted to explore having a child on my own. I went to the reproductive endocronologist.
To start the process, i had to get all these genetic tests. well, first I was told i was a carrier for cystic fibrosis. Then, i got a call from a genetic counselor saying that I tested positive for 2 mutations. she said they were not conclusive as to whether they were on one copy of a gene or there was a mutation on seperate copies. She told me to get more clarification, they would like to test my parents. I only have one living parent- my mother. She had to do this saliva test and I have not gotten the results.
so, basically, if she is a carrier for the same 2 mutations or completely negative, it means I am a carrier. if she has one mutation, it means I got the other one from my father and i have the genetic make up of someone with cystic fibrosis. I have done some research and it sounds rare to have 2 mutations without having it. i can't find any research on people being carriers with multiple mutations so I am assumign the worst. I was told there is a milder form of CF. the genetic counselor asked me if I had any GI issues, chronic bronchitis. Yes, some irritable bowel where occasionally i have to run to the bathroom but my whole family has that. no chronic respiratory issues at all. How can i have this genetic make up and not be symptomatic. is it even possible I could just be a carrier having 2 mutations. I am so confused. this has turned my world upside down. I am torturing myself.
Read more: http://www.healthboards.com/boards/general-health/1032417-dont-know-what-think.html#ixzz4ckuB8byF
To start the process, i had to get all these genetic tests. well, first I was told i was a carrier for cystic fibrosis. Then, i got a call from a genetic counselor saying that I tested positive for 2 mutations. she said they were not conclusive as to whether they were on one copy of a gene or there was a mutation on seperate copies. She told me to get more clarification, they would like to test my parents. I only have one living parent- my mother. She had to do this saliva test and I have not gotten the results.
so, basically, if she is a carrier for the same 2 mutations or completely negative, it means I am a carrier. if she has one mutation, it means I got the other one from my father and i have the genetic make up of someone with cystic fibrosis. I have done some research and it sounds rare to have 2 mutations without having it. i can't find any research on people being carriers with multiple mutations so I am assumign the worst. I was told there is a milder form of CF. the genetic counselor asked me if I had any GI issues, chronic bronchitis. Yes, some irritable bowel where occasionally i have to run to the bathroom but my whole family has that. no chronic respiratory issues at all. How can i have this genetic make up and not be symptomatic. is it even possible I could just be a carrier having 2 mutations. I am so confused. this has turned my world upside down. I am torturing myself.
Read more: http://www.healthboards.com/boards/general-health/1032417-dont-know-what-think.html#ixzz4ckuB8byF