F508 and I148T


New member
I feel lost and unsure what I should do. My daughter (age 5) tested for CF when she was born. The test came back showing that she had CF, however after the testing continued (sweat test - which came back normal)( and DNA testing) it showed that she had the F-508 and i148T mutation. The doctor at the time said that this meant she was just a carrier. However, lately she has been showing signs of having CF. She's never really been a child that moves a lot, when she does she coughs.... too much coughing equals to her puking. Also, her speech therapist noticed that she has shortened speech. She has to take a breath about about 4 words. The more that I have read, I have seen more people with these mutations that do have CF. We finally got a referral today for the pulmonary doctor. Does anyone else have this combination? Any information would be greatly appreciated. Thank you to anyone for your help.