Anyone been diagnosed with Atypical or Non-Classic Cystic Fibrosis?

Posted by choosejoy @choosejoy, Sep 22 3:55pm

Hello,

I have been on a long journey of trying to get some answers as to why I have chronic pancreatitis. While the treatment of Pancreatic Enzyme Replacement Therapy has helped me digest foods, I would like to understand the cause and also gain back some of the weight I’ve lost. My GI doc ordered some bloodwork to look for CFTR gene mutations and I definitely carry the mutated gene from one parent. Many people can be carriers without any symptoms and to my knowledge Atypical Cystic Fibrosis diagnosis is relatively new to the medical world. I did just have a sweat test which was in the normal range. My symptoms line up with CF effecting my pancreas, but I’m wondering if I’ll get a false negative through more testing as pulmonary symptoms are the norm for CF (which I don’t struggle with.)
Any experience you can share would be appreciated. I guess I don’t really care what label I’m given, but looking for treatment.
I’ve been turned down 2x by Mayo when I sent my own medical history in. Perhaps I’d have more success having my GI doc asking for me to be seen.

Interested in more discussions like this? Go to the Digestive Health Support Group.

Please sign in or register to post a reply.