That is true; for many many years the sweat test was all that was available to dx someone with CF. However, no test is 100% (not even genetic testing) so the more tools that you utilize to solidify a dx, the better. In this instance, since the two possible mutations are known and are easy to test for, it makes so much sense to utilize the testing to look for them. This may have been done already, but the main reason for my stating 'the sweat test is not enough' was the fact that the pediatrician was not making clear why, exactly, she believes her daughter is only a carrier.
The ped was already showing himself uninformed by not even being able to explain the meaning of the IRT results and appeared to be uncomfortable even discussing the newborn screening results initially, so it was a concern of mine that this mindset could be leading the ped into brushing things off due to a normal sweat test. Carrier status can only be proven genetically so if this is the case, that is what the ped should have told her unmistakable terms. If she has BOTH mutations, even if the ped does not feel it's all that significant due to a normal sweat test, you should never, ever withhold that kind of information from a parent. If that was the case, she needs to know it and be referred to a CF center for their input, since a ped is not qualified to make this kind of decision. They do not have the expertise.
It's a steep learning curve dealing with drs that we aren't quite comfortable with or who we have trouble communicating with. I wish you the very best with this.
The ped was already showing himself uninformed by not even being able to explain the meaning of the IRT results and appeared to be uncomfortable even discussing the newborn screening results initially, so it was a concern of mine that this mindset could be leading the ped into brushing things off due to a normal sweat test. Carrier status can only be proven genetically so if this is the case, that is what the ped should have told her unmistakable terms. If she has BOTH mutations, even if the ped does not feel it's all that significant due to a normal sweat test, you should never, ever withhold that kind of information from a parent. If that was the case, she needs to know it and be referred to a CF center for their input, since a ped is not qualified to make this kind of decision. They do not have the expertise.
It's a steep learning curve dealing with drs that we aren't quite comfortable with or who we have trouble communicating with. I wish you the very best with this.