Re: help with diagnosis...
Has she been checked by an opthamologist and audiologist? I don't want to hear how great her newborn screening is, I want to know if a qualified specialist has double checked everything because the sensory seeking could be because she has low vision and/or is hard of hearing.
Nobody who has ever interacted with my son from infancy on wards would ever guess his vision is so bad he qualifies for federal blind/low vision programs. He does sensory seek because his normal visual input isn't significant. He will stare directly into very bright lights to get input.
I would think her having seizures of an unknown origin will qualify her for opthamology consult automatically because brain damage and brain malformations go hand and hand with significant eye problems. As far as I am aware most insurance companies will cover audiology exams for children with very little fuss.
Also have you talked to her neuro about the side effects with Kepra? Some of the seizure meds can turn kids into zombies and have severe side effects. It might be helpful to know the side effects so you know what is developmental and what is an unfortunate side effect of the drug.
Genetic consult is a good idea but be prepared to wait a long time for answers and also know some may never get an answer. I don't know a great deal about Mito disorders but I do know they are significantly hard to test for and that most geneticists don't run the full panel because very few hospitals are qualified to run those tests. Even if the tests come back negative, you may want to research and make sure it was fully ruled out by the tests that were run.
If she were my daughter my primary concern would be doing further testing on her hearing and vision just to make sure she isn't sensory seeking due to a physical reason.
Last edited by mekat; 10-02-2012 at 10:27 PM.