Here we are in North Carolina. We are exhausted, but well. Today Trey had vitals done and blood taken at Duke Children’s hospital. By far the most exciting part of that visit was RY GOT TO MEET COACH K (ask someone who knows college basketball and they’ll tell you all about him) !!!!!!!!!! I don’t know what he was there for, but there were cameras and lots of people. Ry was pretty thrilled.
After that we went to UNC Children’s Hospital and got to meet the famous Dr. Muenzer (at least famous in the MPS II world). He’s a wonderful man who talked with us for over 2 1/2 hours. We learned quite a bit, but are waiting until we meet Dr. Escolar tomorrow and Dr. Szabolcs on Friday to make any decisions.
To summarize a 2 1/2 hour appointment, Dr. Muenzer said that there is no definite way of diagnosing Trey. The earlier the diagnosis and the sooner the symptoms present, the better the chances are of it being severe (kids who have severe involvement have brain involvement as well). Also, in his experience, based on the number of patients he has seen (over 125 people with MPS II in the past 2 years), about 2/3 of those kids fit into the severe category. However, some kids with with an attenuated (mild) version of the disease, do get diagnosed early on, and some of those kids also have developmental delays due to hearing loss, not brain involvement. If, by the age of 5 or 6, children with Hunter Syndrome are developmentally okay and do not have brain involvement, they will never have brain involvement. Basically, the chance of Trey having a severe form of Hunter Syndrome is better than his chance of having an attenuated form, but this is based on odds, not Trey. Trey’s tests do not show anything significant other than the fact that he has Hunter Syndrome, not even the MRI of his brain. Dr. Muenzer did say that Dr. Escolar, who we see tomorrow morning, has been working on trying to diagnose kids with MPS II earlier, and is making progress.