Hi Nicole. I'm sorry you are going through this. I am very happy, however, that your doctor is testing your son. We see so many parents come here who can't get their doctors to listen to them.
I do want to caution you about the sweat test. It can give false negatives. When your doc gives you the results, don't let her tell you it was neg or pos. Ask for the actual number. If it is borderline, I'd still ask them to do the Ambry full-panel DNA test. There are plenty of members here who have sweat test numbers that are considered to be negative or borderline, who have CF. That means that when they ran the full-panel DNA test, they found 2 CF mutations. There are over 1500 known CF mutations now. Testing for 32 of them just isn't adequate in my opinion.
As the others have said, getting a CF diagnosis isn't something anyone wishes for, but if your child has it, starting preventative treatment now is important. Please let us know what happens with your baby boy.
Stacey
I do want to caution you about the sweat test. It can give false negatives. When your doc gives you the results, don't let her tell you it was neg or pos. Ask for the actual number. If it is borderline, I'd still ask them to do the Ambry full-panel DNA test. There are plenty of members here who have sweat test numbers that are considered to be negative or borderline, who have CF. That means that when they ran the full-panel DNA test, they found 2 CF mutations. There are over 1500 known CF mutations now. Testing for 32 of them just isn't adequate in my opinion.
As the others have said, getting a CF diagnosis isn't something anyone wishes for, but if your child has it, starting preventative treatment now is important. Please let us know what happens with your baby boy.
Stacey