jennifershope--Adam had a borderline sweat test (42 and 46). So CHOP ordered the full genetic sequencing. They us genzyme. His results came back with two mutations that the lab labeled as "benign" and CHOP told us that as far as they were concerned, he did not have CF. One of his mutations is a 5T variant. After posting here and doing some more research, we decided to get a second opinion and went to Children's National because my husband's cousin uses their CF clinic and gave it high praise. We spent a day there getting tests, PFT, lots of time with docs--they diagnosed him with "CF variant." We trusted that dx more than the CHOP one because DS was never seen by a doctor at CHOP; dx was made based on test results only.
So, we are off to Hopkins to confirm a CF diagnosis and get a second opinion on treatment. I have been in touch with Dr. Harris from Cincinnati Children's and based on Adam's story, he is also interested in seeing him about the possibility of SDS.
So, in a nutshell, that is the story...............
