Has someone else has had two mutations from newborn screening and their sweat test was in the normal levels? My newborn tested positive for two mutations one common one and one super rare . We did the sweat test and came back 16 and 19 for him . Waiting for his next appointment with the cf clinic to see where we go from here but i was wondering if someone else has had the same experience TIA
Hello everyone im trying to see if someone has had a similar experience to ours . Our last child newborn screening came back flagged for cf and with two variants R553X and M265R . When i was pregnant with my middle child in 2024 i did horizon by natera screening on my self and they tested for cf and i came back negative myself for it . Im a carrier for fragile X syndrome which that was the reason i did the testing. In the meantime while i wait for sweat test on baby boy i was wondering if my husband could it had pass both mutations to him . I’ve read that R553x is more a common one but M265R is a rare one . I dont want a diagnosis i would like to see if someone has had a similar issue and if natera horizon has worked for anyone in the past about genetics results
Thank you 🙏
My 5 weeks old baby newborn screening came abnormal for cf were devastated. Our first didn’t had the test results abnormal. Does this mean he has it for sure TIA
My case has been progressed since i became a mother after 3 babies last doctor visit told me i have periodontal disease, i have no idea so im still in shock. I would like to know how bad my case is 😓
My 3 weeks old has developed this sort of rash/acne pretty dry especially after baths. Waiting for pediatrician response but freaking out in the meantime! One side looks worse than the other, its also on his scalp and back of the ear
My 3 weeks old baby has developed this rash overnight, looks irritated maybe from skin friction heat. Is there something recommended to put it
Waiting to get in the pediatrician office asap but is this normal for a newborn baby or you can tell he has blood on his stool