8 July UPDATE from APPT: 8 yo with pancreatic insufficiency, fighting for genetic sequencing
Well, just thought I'd post an update although there is not a whole lot to say. We are still waiting for the second opinion plan of action, which will hopefully include amplified DNA testing for CF, SDS and PCD as well as some others. Will just keep calling and emailing until we get the plan of action. Saw the pulm dr down here where we live. He agreed to see my son in the CF clinic every 3 months, but would not prescribe any preventative treatments bc he does not fit criteria/guidelines for CF. Just monitoring PFTs, nutrition and cultures - every three months. He suggested we might consider a genetics expert down at Hopkins so pending the 2nd opinion, that will be our next stop. Also was told we should see endocrinologist for his short stature, so guess will make that appointment next week. I am trying to get my son to do some saline rinses on his nasal passages daily, he doesn't like it a bit, but sure cleans out his sinuses well. Continuing on his enzymes which we have had to increase a bit, but he has gained a few pounds, 53 pounds last visit - yihaa!! Thanks for everyone's support, it really helps.