Saturday, June 9, 2007

Recent Events

Mira's sleeping through the night continues to go fairly well, knock on wood. This past Thursday, she slept about 10 hours straight, which is pretty rare these days, but overall she is having some good nights. Last night was an exception - she was up several times and had a pretty big seizure about 3:30am. Today was a pretty rough day for her, having four or five pretty big tonic-clonics. We did manage to go to the Royals game this evening for my company's annual tailgate and we all had a great time. Eli wasn't impressed with 'Sluggerrr' (the mascot) and told him to scram on several occasions.

I did want to give everyone an update on what has been going on with some additional testing that Mira has been going through. At our last neurology appointment about a month ago, we were told that Mira fits much of the profile for Angelman's Syndrome (AS). It basically is an abnormality and/or deletion of chromosome 15. Rather than go into a lengthy discussion regarding what, how and why, Angelman's is best explained through the website The occurrence is about 1 in 20,000. Mira went through a round of genetics over a year ago and was not tested for AS, keeping in mind, that many of the characteristics are difficult to see until the age of 2 or older.

Mira has gone through one of four tests, which came back normal. This test confirms an AS diagnosis in about 60% of cases. We are in the process of deciding whether or not to go through the additional tests, but most likely, we will. They are complicated (yet non-invasive - mainly blood draws) and potentially not covered by insurance. If she does test positive for Angelman's, it will enable us to have a much more defined focus in terms of therapy, medications, and her future. Again, we are still in the process of confirming or ruling out this diagnosis and it may be months before we get through this and know for sure. Even then, she could end up with a clinical diagnosis, which can create complications in terms of getting services later.

I am still hesitant to get into lengthy discussions with the prospect of Mira having Angelman's, since at this point, it is premature. The point of all of this testing is to try to narrow down our efforts and find what helps her and what does not. The medication(s) right now are questionable - sometimes I think they are doing more harm than good since she still has not been able to gain any sort of seizure control.

Hope everyone is doing well and I will post again soon.

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