Hi--At 14, my son had the genetic testing and according to Genzyme, both of his mutations were benign and one of the them was the 2694>T. The CF doctor we saw said that there are no such things a s benign mutations. My understanding is that the genetic companies keep a database and these mutations have not been known to show symptoms. But, the one that my son has that you/your child has is a 5T variant--known to cause symptoms. Remember that CF is a clinical diagnosis; it requires more than genetic testing for a diagnosis. My son is diagnosed with variant CF. The first CF center we went to told us that as far as they were concerned, he did not have CF. They never saw him; just looked at genetic testing and borderline sweat test.
The second CF clinic we took him to did a full work-up including chest x-ray, blood work, PFT. The pulmonologist reviewed his medical history page-by-page with us. Each piece of evidence pointed to CF. His chest x-ray showed clearly mucous in his lower lobes; his PFT was indicative of CF lungs, not asthma lungs (previous diagnosis). He started taking pancreatic enzymes and has gone from 8-10 bouts of diarrhea a day to 2!
So--keep pushing if you/child are symptomatic. My son is doing well with little lung involvement at this time. It is a unique, individual condition!
