I feel that the newborn screens are unbelievably beneficial.
There seems to be a lot of controversy since there are possibilities of getting a false positive which causes a lot of stress for new parents, and I know my opinion might be biased, but the screening ended up possibly saving my daughter’s life since we get to use preventative measures from birth. While there are only a few babies that may actually have something and there are false positives, the ones that find their conditions early on are helped so immensely by the system that I can’t help but think it’s beneficial.
I can still stay that the week after the newborn screen results was the worst of my life I do have some anger that I missed that week of my daughter’s life because I spent it analyzing her and in fear rather than loving her, enjoying her, looking at her and seeing how beautiful she is instead of how much weight she looks like she might have gained.
The handling of the situation, not the screen itself, was the problem. First off, our pediatrician should have been more knowledgeable. Secondly, we shouldn’t have been told until an appointment was already made for her sweat test and coming up within the next few days because the wait and the being held in the dark about what it means was unfair.
I also want to inform anyone that may be waiting in limbo that don’t believe everything you read online.
We read a lot of places that 90 percent are false positives but it really depends on your state. Here in PA they do IRT level. IRT stands for immunoreactive trypsinogen, which is an enzyme that is made by the pancreas. A high level of IRT can be an indicator of CF, however it can also be causes by a number of other factors like a complicated birth. Some states differ but in Pennsylvania if there is a high IRT level then they do DNA testing right away.
In the DNA they’ll look to see if there is a mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). If a mutation is detected then the baby is either a carrier of CF or has CF. It takes two copies of the mutation to have CF. While DNA isn’t a diagnostic result, it is a very good indication of whether or not the child has CF. In Pennsylvania the odds of someone having a presumptive positive newborn screen and a negative diagnosis are in fact very slim.
I am sorry for anyone who has to go through the scare of a false positive. But I know that if Anna had screened negative I would have been angry at the fear I experienced over nothing, but so relieved and so thankful that it would have overpowered any negative feelings.
Anna’s condition has also made me appreciate the health of my son that I’ve previously taken for granted. I think that if her results would have been negative I would have appreciated her health every minute of every day from then on. It’s easy to only see where you stand in it, how you were affected, but the benefits for the kids who are less fortunate and do have the disease are so promising that the screen can be nothing but a good thing.