two copies of m470v (not one but two copies)
Hello, does anyone happen to have this mutation of two m470v. My 5 yr old was diagnosed at 3 for cf even though this mutation isn't suppose to be disease causing..
Famous words...I'm really tired of hearing that. Josiah my cfer has had pneumonia over a dozen times before age 3, 4 sinus surgeries, 2 picc lines hospitalitized 5 times last year, twice this year exacerbations every year we are now waiting for Ambry results, and as crazy as this sounds I really hope they find something. He's passed two sweat test, and he is pancreatic insufficient. He's on all the typical cf meds and treatment regiment. I was hoping to find Steve from Ambry Genetics on here to ask a couple questions..
Hope to hear some thoughts from someone soon
Thanks
Shellee
Source: Cystic Fibrosis DNA and Mutations Forum - Category: Respiratory Medicine Authors: Shellee Tags: DNA and Mutations Source Type: forums