YESSSS!!! I'M A BOY! I am one unique and rare little man who was diagnosed last June with Rett Syndrome! I also have Chiari 1 Malformation. When we first started seeing signs that something was "special" about our little man, we started seeing many different doctors. We were not taken seriously at first, but we pushed and fought back! It wasn't until we were hospitalized for almost 2 months that things started to fall in to place. We had the decompression done for the Chiari 1 Malformation, and thought we were in the clear!! We also had a genetic panel done, and the doctors found nothing! Then after about 3 months of being home , we started having seizures. Mommy then took me to the doctors and we had many EEG's done--and finally an epilepsy genetic panel done....and that is when we found out.
The doctors are thinking that AJ may follow the same path that girls tend to because of where the mutation on the gene is and how very small it is...but as far as anything else goes, we don't know. Dr. K at Boston told me I was 1 of 4 boys in the USA that he has seen...and he was so proud as to how well I was doing! (that's because my mommy, daddy, and gamma take awesome care of me!!)
We are hoping to make many new friends--even if they are girls ;-) (we are learning to cope with a new little sister, but mommy still snuggles with me!!)