Thanks so much! Our son is actually 5 1/2 but I'm trying to put together a nice intro for new parents because what you and many others experienced shouldn't be the case! I'm ting to pull man different experiences so I can give some representation of scenarios. Thank you so much for helping and others, please any experiences to share for the summary for parents getting that newborn screen call on what to expect at first appointment.
This is a great idea to compile this type of info for parents/loved ones to read ab first getting diagnosed. Thanks for posting! The first step in our journey was getting the call from my son's regular pediatrician, which came on a Tuesday, my son was about 2.5 weeks old. The actual doctor didn't make the call, but his nurse did. She said they got results back from blood that was drawn at the hospital after him being born, and that the results indicated a diagnosis of cf. She said they'd already scheduled us an appoint at UAB for Friday morning to have a sweat test to "rule out" cf. Well...I was in panic mode, immediately went to the Web doing research, was horrified at what I learned, and went into cry cry cry mode. So when his peds doctor called, he gave me more info about the actual results from the test. His IVR levels were elevated, which prompted them to do the second prong DNA testing. DNA testing showed he had 2 genetic mutations, which confirms a dx of cf. If he'd had one genetic mutation, he would just have been a carrier.
We had our first cf appointment immediately (well about 3 hours) following my son's sweat test. His levels were intermediate, but the mutations confirmed a cf diagnosis. We'll repeat his sweat test at 6 mos. So the doctor explained cf and our son's specific mutations. He got started on enzymes, salt and vitamins that evening. They also did a throat culture, and they tried to take a stool sample but son (surprisingly had not gone all day). We didn't get an explanation about the cpt until our second cf appointment, which actually is a different cf center because we moved to Georgia. At the second appointment, we met with the same team + addition of respiratory therapist, who was the one to do the throat culture. We actually also don't meet with a doctor at our clinic appointments, it's with a nurse practitioner. Is this atypical ? or not too different from "norm"? Well I know this was a LOT of info
but if anybody has any questions, please ask!! We're new to this and still learning, but this is a great place for everybody to share different ideas/approaches and what works for some but not others.
