DNA Sequencing Results in but…

So the DNA sequencing results are in. Hannah’s genetics doctor couldn’t give us a “type”, however. She did give us confirmation of the first DNA mutation and gave us the second mutation as well. I’ve sent those off to Dr. Schiffmann, Hannah’s neurologist, to see if he could give us a “type” and the prognosis of other patients with this combination. We do know that this second mutation, very rare, is one of the more severe neuro types apparently (from what Hannah’s genetics doctor said), but we really have to see how it pairs with the other one (which we know is a type 1 mutation) to get an idea.

Dr. Schiffmann has been awesome at returning emails, so hopefully I will hear back from him tonight or tomorrow…