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.

1 comment:

Christina said...

I'm sure you kind of have to feel a mix of emotions. Partly that maybe China was right, but then on the other hand if there was something, then you were already prepared for it and you know what it is and what to watch for. She is such a doll.