We are regaining momentum on the search for Bertrand's condition.
Yesterday, Bertrand's blood was drawn for hepatic (liver) function tests and the MeCP2 gene sequencing for Rett syndrome. Bertrand's liver function came back as still elevated: albumin 4.0, ALT 324 and AST 188.
The results for the MeCP2 will be back in about 21 days. If that comes back normal, we'll test the CDKL5 gene; one responsible for atypical Rett syndrome. Then, if that is normal, we will order testing for the final atypical Rett gene.
Frustratingly enough, in digging through my email for this post, I found an email from Dr. Vandana Shashi of Duke University to Dr. Longo from April 2009 recommending, "MECP2 sequencing if microarray is normal." Argh. She recommended testing for it almost 5 months ago and I missed it. :( I am going to walk back through her additional recommendations to make sure I haven't missed anything else.
Bertrand's 24-hour EEG should be scheduled for or by the middle of next week when Dr. Longo is back in town. This will shed a lot more light on what his brain activity looks like and what medications we should consider.
Don't beat yourself up over this. I've come across the similar things where I have had recommendations and they have totally slipped my mind. We can't go back and can only move forward{{hugs}}
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