Is it possible??

[jenbren]

Long story short, my son was diagnosed with chronic lung disease and restrictive airway disease. He is 2. My question is that he seen a new pediatric pulmonology doctor today that said he looked over all his charts and wants to do a CT scan and a sweat test. Is it possible to have a child with CF if I was told I didn't carry the gene?? I thought I read somewhere that both parents had to be a carrier for the child to have it. It kinda would all make sense to all his symptoms he has had since birth, but I am at a loss.

 

[2005CFmom]

You probably only had a screening of the most common genes, not a full genetic test. So it is possible that you are actually a carrier. There are nearly 2000 mutations and most screening test only screen for 25-100 of the most common ones. But you are correct, you would need to be a carrier for him to have CF.

 

[jenbren]

Thanks for the info. His sweat test and CT scan is scheduled for May 21st. Anxious and nervous.