Hi Cari,

Years ago my son's pediatrician wanted an MRI of his brain, for no particular reason, and me and my husband said no. My son is 14 now, he has Down Syndrome and Autism also non verbal.  In April of 2011 he suffered a major stroke and was diagnosed with Moyamoya disease. During testing they also told us he had suffered 5 "silent" strokes but couldn't  tell us when they were or how long he had Moyamoya disease. In all of his 14 yrs, he has never indicated in any way that he is sick. Sadly, it's always a guessing game!

If i were you, I would ask her pediatrician to get her an appt with neurology ASAP. Did they tell you how advanced the Moyamoya disease is? I would be scared to death to wait. It is a progressive disease, and with her not being able to tell you anything means this really needs to be watched closely. Is there any where else you can go to?

We live in Philadelphia, PA, but had our son's surgery done at the Children's Hospital of Boston. We were not happy with the Children's Hospital in our area and had all of his records sent to Boston and he needed surgery quickly.

Best of luck to you and your daughter!

Thank you, thank you for your responses! My pediatrician was not happy with waiting until the end of January and we now have an appointment with Dr. Smith on the 19th (Boston Children's).

MomKaren, the doctor that diagnosed the Moyamoya told me that they see this with children that have Down Syndrome but not with my daughter's disease (MPSIIIA) but I wonder if conditions in the brain make it more likely--it is hard to imagine that she has 2 rare diseases that aren't related! I am concerned that she may have had TIAs that we did not diagnose because she never complains about anything and is non-verbal. I can totally relate to the feeling that she is a constant puzzle keeping us guessing!

Thank you again for the responses!