Hi! We are new to this website. I have a 9 year old son named Aiden. Doctors told us a few years ago that they thought he had CF. He’s had 3 normal sweat tests and genetic testing revealed S1235R and 7T. I noticed you also have these mutations. I’m told these are non disease causing but since he “clinically” has cf they treat him as such. We see a pulmonologist but don’t go to a cf clinic. He is colonized with pseudomonas, has a gtube do to not gaining weight, and for the last 3 years has gotten “tune ups” regularly. They have also told us we needed to exercise cf precautions at school. I’ve never been able to contact anyone with the same mutations as him so I’m excited to visit with you. Hope things are well!
I was reading a post on DIOS from April and your comments on pancreatitis/mucus barrier. I find your posts informative, so I thought I’d ask your opinion. My daughter is in a constant state of some form of pancreatic pain. Docs don’t take it seriously, since her lipase is only slightly increased. Last week, after an ER visit, I read an article about slightly elevated lipase being used as a cf diagnostic tool with marginal or low sweat chloride results. I was wondering if you ever find this to be true. In chronic pancreatitis, are the enzyme levels ever crazy high? She never tests that high, but they do get elevated. She has one mutation, and the 5T/12TG variant, which ambry says are both pathogenic. Jewish says that she has cf related disease, don’t treat her for cf, but monitor her annually. How can we manage what she has going on? I see you have small duct disease, how small is your pancreatic duct? Hers is 0.5 mm. Any insight on this would be appreciated. We are in Longmont