Thursday, March 12, 2009
Joubert Syndrome is Confirmed
Just a quick note to say Julia's Joubert Syndrome diagnosis is confirmed. I heard from the doctor that her MRI is characteristic of Joubert Syndrome. We gave permission for this doctor to forward her MRI to another doctor out of our area that specializes in Joubert Syndrome. We had done basic research on this before the adoption and this was in her paperwork from China, so is isn't a shock to us. It is a relief to have the doctors here agree and now we can move forward with her care. Basically, she will have extra tests done to check her kidney and liver functions as she grows, and if they notice any changes, we will go from there. Also, we will have to follow up with some physical and occupational therapy to help her master large motor skills. Other than that, she is a healthy, happy six year old.