First of all welcome, you are in the right place...questions or no questions, this a great place of support! I know it can be hard, as husbands process all of this a different way. I thought I would respond as I know what you are going through. My baby was diagnosed through newborn screening, (delayed in telling us, although that office had all forwarding information as well.) We found out that it was a possibility that he had it at 3 1/2 months old. Little did i know that in the state of california, they not only test irt levels, but run a panel for mutations as well, so they already knew he had it but made us wait for a month to run sweat tests and my genetics! Anyhow, sweat tests DO come out boderline for some mutations.... as far as the "mild" mutations, it pretty much just classifys the ones that tend to not affect pancreatic function/growth, but can be just as severe with the respitory issues. I have come to learn that CF is not a death sentence as a lot of outdated books/resources told me in the beginning. It is a spectrum of disease, like autism, affecting everyone differently to different degrees. After my son was diagnosed the genetics on my older boys were ran. They came out with identical dna...same mutations. Now, obviously, it presents itself differently even amoungst family. my baby is probably the most severe, already culturing pseudomonas since 5 months old. He needs xeopenox, hypertonic 7%, pulmozyme,prevacid and tobi. Now, my 4 and 5 year old only need the xeopenox and hypertonic.... and they need some nasal spray.It presents itself in everyone differently at different ages. Now, there is no guarantee that your other children have it, or don't. odds are that they don't. assuming you and your husband are both just carriers and neither one of you has cf, odds of having another are 1 in 4. But, in my case i ended up with all 3.
Hang in there, come here for support because we can all relate. Some days are easier than others.... See your children for who they are, not the condition they have... and just love them. There are so many advancements that have been made and if you start treating preventively then your son with cf should have really good chances of having a normal life.... just takes a little more work on your part.
also, get to an accredited cf care center... regular docs don't seem to know much about cf and might steer you the wrong direction.
Take care and feel free to message me,
Andrea
mother to Diego 6months, Raymon 5yrs, Richard 4 yrs, all with DelF508 and D1152h
