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hayleybug 04-29-2006 12:55 PM

confused about test results.....
 
Hi everyone...my name is Amy and I'm new here. I'm 26 and currently pregnant. I have a family history of CF so my OB suggested carrier testing. Turns out that I am a carrier but he also said that the blood test indicated that I have 2 mutated genes and went on to ask me about my childhood...if I had any symptoms, etc. I told him that I had bronchitis repeatedly as a child and had pneumonia a couple times and I still have bowel problems. I have been sent to another doctor for further testing but I don't see him for another week. I am truly concerned and not totally sure what my blood test results are indicating at this point. Do 2 mutated CF genes mean that a person definitely has it? I'm hoping that someone can give me some insight on this because I'm stumped and going nuts. Oh....my baby's father is not a carrier by the way(thank goodness!)....we had him tested. Thanks in advance for any advice anyone may have.

Cat_0587 04-29-2006 03:18 PM

Re: confused about test results.....
 
Hey,

i'm no expert but so far as i know if you have two CF genes then you must have CF, but from what i understand there are different gene mutations for CF and they can present differently, some not till adulthood.

Tho it does seem strange that you wernt tested earlier as you said you have had bronchitus, pneumonia and bowel problems as well as a family history of CF.

Make sure you see a CF specialist as they are more experienced at diagnosing and managing CF in adults.

good luck and keep us updated :)

Cat x

dannysmom 04-29-2006 03:18 PM

Re: confused about test results.....
 
Hi Amy,

In order to have CF you have to have two copies of the CF (mutated gene) for example, my son has two copies of Delta F508. If you have only one copy then you are a carrier like my husband and me. There are cases where people have not been diagnosed until adults. Are you going to see a pulmonologist and what further tests are they going to do? I would begin writing down any questions you might have for the dr so that when the time comes you won't forget. Best wishes!

matt's mom 05-01-2006 11:37 AM

Re: confused about test results.....
 
Hi Amy
My son has three mutations but they are all different. He exhibits some signs of CF but at this point he has not been diagnosed.


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