our son was recently diagnosed with CF with two atypical (or whatever you want to call them) mutations, after a negative sweat test. he's generally in great health, though x-ray showed something going on in the lungs and he cultured haemophilus influenzae, so we're doing pulmozyme, albuterol and CPT, and obviously plan on continuing with that.i know that there's no guarantees in life, and especially not with CF, but was hoping to hear about the experiences of people with two atypical mutations. my son's F1052V & c.-812T>G (also known as -741T->G, c.680T>G?) (edited: to change sweet test to sweat test. he would have definitely been positive on a sweet test)
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experiences with two atypical/mild/nonclassic mutations?
- Thread starter jodad
- Start date
our son was recently diagnosed with CF with two atypical (or whatever you want to call them) mutations, after a negative sweat test. he's generally in great health, though x-ray showed something going on in the lungs and he cultured haemophilus influenzae, so we're doing pulmozyme, albuteroland CPT, and obviously plan on continuing with that.i know that there's no guarantees in life, and especially not with CF, but was hoping to hearabout the experiences of people with two atypical mutations. my son's F1052V& c.-812T>G (also known as -741T->G, c.680T>G?) (edited: to change sweet test to sweat test. he would have definitely been positive on a sweet test)
our son was recently diagnosed with CF with two atypical (or whatever you want to call them) mutations, after a negative sweat test. he's generally in great health, though x-ray showed something going on in the lungs and he cultured haemophilus influenzae, so we're doing pulmozyme, albuteroland CPT, and obviously plan on continuing with that.<BR><BR>i know that there's no guarantees in life, and especially not with CF, but was hoping to hearabout the experiences of people with two atypical mutations. my son's F1052V& c.-812T>G (also known as -741T->G, c.680T>G?) <BR><BR><BR>(edited: to change sweet test to sweat test. he would have definitely been positive on a sweet test)<BR><BR><BR><BR><BR><BR>