Todays Appointment

This post could be about ten paragraphs to get the whole story but I am going to edit for the sake of time... I am exhausted. From the time we walked into the hospital to the time we walked out was close to 5 hours. We waited over an hour and a half to get called back and it was a LONG, LONG, LONG appointment. They asked a lot of questions in a lot of detail.

The doctor and his intern feel that her cerebellum issues have been overlooked and should not have been. The structural problems that have been discussed are her enlarged ventricles (although I learned today they are not simply enlarged but also formed improperly), her ventriculomegaly and the thinning at the back of her corpus callosum. What I learned today is that the front of her corpus callosum is also problematic. It is too thin and not properly formed. Then her cerebellum is too large and the wrong shape.

The plan is to have a higher level MRI done to get a better look at these structures. Then we will do genetic blood work once the doc knows what he wants to test for. Based on her history, her presentation and her last MRI he feels he may know what gene is mutated. It is a gene that is responsible for the development of certain structures in the brain. The good part is that NONE of this involves any of her cognitive faculties! The bad news is that once you add the cerebellum to the mix you are talking about life-long balance, tone and motor difficulties. It is very stressful to know all the nitty gritty but it is going to give us great information about what we need to keep her moving forward as she gets older and ages out of EI.