updat/questions

So a few months back i posted about my daughter and these sweat test. Finally got in to see the CF doctor personally. He looked at my daughters results ans told me flat out he was very baffled on every thing. He said that he has never seen someone have 2 sweat test done at different times and come back with exactly same results both times. He checked her out. Told me by looking at her that he doesn't think she has CF. But because of her sweat test and symptoms he did a lot of testing. First test he did was he swabbed her throat. He said that the culture did grow staph but that was normal in a non cf patient. Second test he did was a stool sample to check nutrients. Came back at over 400. Third test he did was a CT scan of her lungs and face. Everything was clear but she has very large adnoids. Small pollups. He said given that he still didnt think she has CF. Last test he did. .... a complete full gene test. The longest 4 weeks of my life. ....he called me today. Said they did find a mutation. They found one. But the type of mutation they found is rare. She has to get one more blood gene test done to look for a partial mutation. Has anyone ever been threw such? I've been dealing with testing since January. The mutation she has that he named is 5t. Has anyone every delt with a full mutation and a partial? ??

Source: Cystic Fibrosis Newly Diagnosed Forum - March 21, 2015 Category: Respiratory Medicine Authors: jabug8 Tags: Newly Diagnosed Source Type: forums