I am lost

03-29-2017, 04:14 PM

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.

05-03-2017, 07:30 PM

Hi Snailj,

I have the exact same thing, except regarding all of the things having to do with the 2 mutations that are separate copies. No symptoms, no issues with anything having to do with CF - yet I have it. There is in fact a milder form of Cystic Fibrosis...sometimes even light versions. To this day, I'm still very healthy.

Recently I had decided to begin eating meat, though. I was told by my new doc, who I recently switched over to from my previous GP, told me when I stated that I was vegan that "A healthy lifestyle goes along the lines of meat, especially if you have Cystic Fibrosis. If you have CF, you need all the protien you can get. It's a miracle you have never had any symptoms." Now, I've been vegan most of my life, but due to his advisement (I'm one to trust doctors with my life), even though I had no symptoms, I went on that diet. After 3 days of eating meat, my CF flares up. I thought it was just a cold and a cough, but it lasted for about a week and a half until I decided to research and learn about meat eaters.

To my surprise, I learned how DISGUSTING meat is. Pork and beef are the worst participating ones. I had always been vegan just not to gain weight - boy am I glad I avoided meat for years! I decided to cut it out of my diet after that....no symptoms from then on for 1 week. Went on it again after that week's time in order to test if that was really the reason I had such a huge change in health; and I DID have the same symptoms...but worse than the 1st time.

Since you're completely healthy and have no issues with health, all of this information is likely irrelevant to you. But, I thought I'd share my story anyway - just in case anything similar occurs in the future with you. I honestly wouldn't worry about your case -- my story just comes to show you that you can live a happy, healthy life even when you have such a thing.

Good luck to you & be sure not to stress yourself TOO much!
- Raven

05-04-2017, 04:53 PM

Thanks Raven for responding. what you said was not irrelevant at all and i appreciated getting some type of feedback.

I got the results and the mutations have to be on 2 different copies. my mom tested for 1 and my dad has passed- so we can't test him. We can fairly conclusively assume the other variant came from him unless he had a complex allele. But my variants don't show up on a complex allele. one is the scary delt F508 that my mom carries and the other is this weird missense mutation that a limited amount of people in the CF database have this combo to the point they don't even have valid data on it- or a limited amount have this combo and are being followed at CF centers

Now, in looking at my history.. hmm. have i never had GI issues? I have. have i been hosp or severely in capacitated by it? no. i went to a pulmonlogist. He did a chest X ray which was clear and my FEV was good. Now. I do have sinus problems and a lot of nasal congestion. But flonase does the trick. i also have a deviated septum. perhaps I have horrible polyps that I am unaware of.

I have a sweat test coming up and if that's positive, then what- they poke around more and test all my bodily fluids for what they grow. omg. i think there really is still a lot they have to learn about this. i think some are over treated, some are under treated.

you don't have to answer. but how old are you? do you have children? I don't know if i should follow through with this kid thing because now i feel so pessimistic and that my life expectancy and future health may not be what i thought it would be. I ask you these questions because if you are older than me and healthy-it will make me feel better. if you feel confident about caring for a child - it will make me feel better. i know how intrusive this all is. i have not been this depressed in a long time. I am terrified of the sweat test.

I am lost

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