Criss-Ann, welcome to the site. I know this is scary, frustrating, and confusing. So many of us have been where you are. I'm so sorry you are feeling this fear and uncertainty. I can tell you, though, that you have come to the right place for answers and support. You should tell your son to look us up, since you are so far away from him. We will be happy to help him along.
The docs will probably do a sweat test on your granddaughter first. Usually the insurance companies require that before drawing blood for the DNA test. They do the cheaper tests first, etc. A lot of doctors will just tell you if the sweat test is negative, positive or borderline. ASK FOR THE NUMBER! Sweat tests can give false negatives, but not false positives. There are a lot of people here who's sweat tests were considered negative, but when dna testing was done, CF gene mutations were found. If your son can get the docs to just order the dna test, and to order the FULL PANEL from Ambry, that would be best. Tell him to insist that they test for all known mutations (full panel), because there are over 1500 now.
If you get a diagnosis of CF, remember that it can be a good thing. I know that sounds crazy, but the good part is that your granddaughter can get the proper treatments to prevent damage to her body. CF treatment has come a long way over the years, and while there is still no cure, there are a lot of great treatments that increase the life expectency.
Take things one step at a time, and we will be here to help you along the way. Feel free to ask anything, because someone here has been through it no matter what it is. Please keep us posted on what your son finds out.
Stacey
