<div class="FTQUOTE"><begin quote>"DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation."</end quote></div>
Ask the pediatrician for a copy of the actual results of the test, to find out exactly what her results were; in all likelihood he received more info than you did in that letter. 'At least one' as worded in the testing FAQ is not good enough, since the pediatrician is being too vague with you. If he is telling you the negative sweat test is enough, that is not true. The only thing that is enough to rule out CF is being tested for both mutations and finding that she only carries one of them.
So, if she was tested for <i>both mutations</i> and she only has one, that is wonderful- you can relax and never worry about this again. I truly hope this is the case. But he is not telling you this when he tells you not to worry based on the results of the sweat test alone. If she has these two mutations, she has CF regardless of her sweat test results and she needs to be referred to a CF center where you will learn much more and be given an appropriate course of action.
One last question: was her sweat test performed by a lab accredited by the CF foundation (generally the labs at hospitals where there are CF centers.) If it was not, the results might not have been accurate.
Ask the pediatrician for a copy of the actual results of the test, to find out exactly what her results were; in all likelihood he received more info than you did in that letter. 'At least one' as worded in the testing FAQ is not good enough, since the pediatrician is being too vague with you. If he is telling you the negative sweat test is enough, that is not true. The only thing that is enough to rule out CF is being tested for both mutations and finding that she only carries one of them.
So, if she was tested for <i>both mutations</i> and she only has one, that is wonderful- you can relax and never worry about this again. I truly hope this is the case. But he is not telling you this when he tells you not to worry based on the results of the sweat test alone. If she has these two mutations, she has CF regardless of her sweat test results and she needs to be referred to a CF center where you will learn much more and be given an appropriate course of action.
One last question: was her sweat test performed by a lab accredited by the CF foundation (generally the labs at hospitals where there are CF centers.) If it was not, the results might not have been accurate.