Traits and Severity
I just had my second child, and I found out he carries two different traits than his sister. His sister's chloride levels always test in the middle, so she is diagnosed with CRMS and needs to be tested yearly. When I found out he had two traits also, I wasn't scared because his sister carries two traits, and she has been okay. I assumed they would share the same traits, same mom and dad. Her levels aren't high enough to diagnose her with CF but not low enough to dismiss it. I just checked their newborn screenings and they both share one trait while the other trait is different. It makes me curious to know which of us is carrying two traits and it wasn't caught during our newborn screenings. So now, I'm in worried mom mode. Just curious if anyone shares the R347P and F508del trait. What has your experience been?
I am currently waiting on the lab results of his stool sample. The center we go to doesn't test chloride levels until they are about a month old. He isn't even two weeks yet. It's making me anxious.
Hello
. I can imagine you are in the worried mom mode! I'm glad you found our community whose main purpose is to offer each other support. We wish you, your newborn, and your daughter all the best!
You seem very familiar with the CFTR (cystic fibrosis transmembrane conductance regulator) gene and its relationship to CMRS (CFTR-related metabolic syndrome, a kind of atypical CF). (For other readers, here's a link to a high-level overview on CMRS, if you need it. What has been your expereince?)
Please keep us informed about how your children are doing (only if you have time - being a busy, busy mom). We care. Warmly, Kathy (Team member)
