Mira had her annual holiday music program, sponsored by the Lee Anne Britain Center last night. Her class performed 'Jingle Bell Rock'. Despite being in a pretty cranky mood most of the evening, Mira managed to do well once up on stage with one of her therapists. I think all she really wanted to do was catch up on some sleep. Neither Mira or Eli were at all interested in having their picture taken - so it goes.........pictures of squirming and weird faces was the best we could muster out of the kids last night.
Eli became really excited once he saw Santa make his grand entrance at the end of the program. He was pretty direct with Santa and requested "Transformers" and an "Army Doll." Eli seems to be all about 'armies' these days, drawing pictures at school, telling his teachers all about them, etc., etc. If you would've asked him, "armies" were what he was the most thankful for this thanksgiving.
Earlier today, Mira had her neurology visit, which we had on the books for a month or so. We talked a little about her EEG, which although improved from her all her previous EEGs, is still abnormal. Her neurologist couldn't elaborate on it any more than that - there wasn't anything revealing in the EEG that would offer any clues or further insight.
As with every neurology appointment lately, we seem to walk in with certain expectations and questions, and 90 minutes later, we walk out feeling spun 180 degrees. Sarah and I had decided that we wanted to eliminate unnecessary medications and diets that we felt aren't working for Mira and just stick with what is helping, which we feel is the Lyrica. Therefore, we have decided to first wean the Zonegran which will take about the next two weeks. We'll give her the rest of December without any changes and then around the beginning of January, we'll begin weaning her off of the MAD (Modified Atkins Diet).
We feel that neither is doing anything - Mira continued to have daily seizures while doing both, with her seizure activity spiking badly during October. Things actually became worse. She has been on the Zonegran for over eight months and there was no positive change during that time either. As far as the diet goes, we essentially have already boosted her carbohydrate count by giving her applesauce throughout the day, so far we haven't seen any adverse affects from this boost seizure-wise. She is up from 10 grams to probably around 20 grams daily at this point. For Mira, we feel the diet is not nutritionally adequate, causes bad constipation, high cholesterol, and can be hard on her stomach. It is not healthy for kids to be on it long term. By gradually tapering these two therapies off individually, we can determine what is helping and eliminate what is not. Her neurologist agreed, thus our plan of action is in place for the next month or so.
What really threw us for a loop this particular appointment stemmed from the video I had sent her neurologist just before Thanksgiving. During her first couple of seizure-free weeks Mira had some strange, somewhat repetitive movements and breathing patterns. I videotaped her, posted it on Youtube and sent him a link. He reviewed it and it triggered some ideas for him, one of which was Rett's Syndrome. Some of the movements were apparently reminiscent of past Rett's cases he has seen in some of his patients. Mira had already gone through a round of genetics testing soon after her seizures started (in December 2005 I believe) and they came up with nothing in regards to Rett's.
As it turns out, Mira was only tested for the atypical mutation of the CDKL2 gene (5% of Rett's cases) and not the MECP2 gene (95% of cases). The reason testing the atypical route was based on the symptoms she was presenting at the time, but now, based on other criteria, she fits more of the characteristics of typical Rett's cases. So, CMH is scanning her DNA and seeing if they can find a mutation of the MECP2 gene to see if she has Rett's. We went through a very similar and emotional scenario several months ago, when her neurologist suspected she might have Angelman's Syndrome, although she lacked some of the facial features evident in most kids with AS. Rett's, as with Angelman's is pretty cut and clear - she either has it or she doesn't. We expect to get the results back in a few weeks.
The great news is that Mira continues to be seizure free, nearing the one month mark on Tuesday!