I have an almost 7mth old who is failure to thrive and malnurished even though she eats a ton. She has really aweful smelling poop and GI issues. She had two sweat test at 5mths old and both were 32. We have been waiting on genetics to come back. We found out that she has mutation 1340delA (a known CF mutation), but the second was Variant E257G. Has anyone had the same thing come up?We met with the CF clinic this morning and they don't know about this second mutation. So they told my husband and Ithat they are not able to say100% if she has CF or not. After speaking with the drs they say that she has many symptoms of CF, and will keep and eye on her.
Any information would be helpful.
Any information would be helpful.