We were finally able to talk to the doctor about Nathan's bloodwork results. His thyroid is normal and he again tested negative for gluten intolerance. The only abnormalities were a zinc deficiency and a deficiency of one of the growth hormones. The doctor said that this growth hormone is often low at this age and also could be low because of the zinc deficiency. She recommended that we work with a nutritionist through CHOP to get his calorie intake and zinc levels up and recheck in six months. When I asked why we don't move forward with some other testing instead of playing the "wait and see" game, she said the tests are three hours long and invasive so she would prefer that we work with a nutritionist through CHOP for now. Anyway, I was very disappointed because I had convinced myself that the bloodwork would reveal some type of thyroid condition or celiac disease that would explain everything that is going on with Nathan. It seems like we are still searching for a diagnosis when really maybe we should just be attributing all of this to pycnodysostosis.
I still have to schedule with GI at CHOP, orthopedist, nutritionist, dentist, sweat test.... all those. Plus we need to find a way to increase physical therapy for Nathan. He went to a school friend's 2nd birthday party on Sunday. There were many 15-18 month olds there who were doing a lot more than Nathan physicallly. The gap is widening between him and the other kids. I think we have been so happy and content with him walking and getting around that we haven't pushed him on the running, walking up and down steps and jumping.