Newly Diagnosed with S945L, do you know anything about this mutation?

[TeamColinD]

Hi there. I am soooo glad I found this website and you all!! These last two days mine & my husbands heads have been whirling from the confirmed diagnosis of our littlest guy, Colin, born last August. So far he has no symptoms (Thank God!) but during his newborn screening, F508 was identified. The results from the newborn screening were sent to the wrong pediatrician's office for over a month before our doctor got them. And after 10 terribly long weeks of waiting for his genetic sequencing test results to come in, we found out this past Tuesday that the 2nd mutation was found - S945L. Our doctor said he's never heard of it. What do you know about this gene? Is this CF? Can offer any advice or places to look for more information? We want to learn as much as we can before he starts getting sick so we can be proactive in his treatment. We appreciate any help you can give us.

Sincerely, Samantha
Mommie to three sweet boys
Dylan (4yrs), Connor (2yrs), Colin (4 months/CF)

 

[jpear1977]

My son has the same mutation. How is your child now. Mine is on treatments twice a day, azithromycin (MWF), pulmozyme, and saline chloride, and now starting Vancomycin as a neb for an infection.