Since we received Darus' PMS dx at the end of September, and the 'Standard of Care' for PMS was issued in October, we've been putting off meeting with doctors and specialists as we were hopeful we'd get everything done at once in New York at Mt. Sinai. Unfortunately, the study we have been accepted into is still yet to receive final approval, and I felt like we really couldn't wait any longer. That said, Spring Break is here for Darus and I have his schedule full!
Today we met with an endocrinologist. It was a difficult appointment. Darus has really lost any and all patience for waiting in doctor offices. He was extremely agitated and squirmy and made it very difficult for me to even talk to the doctor. Thank goodness our caretaker, L, was with us. She was able to take Darus out of the room to allow me to have a conversation with the Dr.
In addition to a standard thyroid work-up, a number of other blood tests were ordered. Specifics in photo below. The doctor mentioned that there were two courses of treatment that he would suggest -- however, both are very experimental and one might not even be available in the United States. The first - IGF-1 (insulin-like growth factor) - is available in the US and is most commonly used to treat children with short statures. IGF-1 is currently in clinical trials for PMS, diabetes & ALS, among others. The other intervention discussed was intranasal insulin. This option doesn't seem to be as readily available, though. Interestingly enough, though, it is in clinical trials to treat Alzheimer's. I plan to talk about both with our geneticist in July.