I had a fairly lengthy discussion with Mira's neurologist on Friday afternoon, finally after weeks of trying to reach him directly. Sarah and I have been very anxious to discuss the results from Mira's Angelman's testing.
Basically what he told me is that based on the methylation test (one of the four that I mentioned in an earlier post) and the characteristics of what they discovered, it is highly unlikely that Mira has Angelman's Syndrome. Some of the other test are duplicate efforts somewhat, meaning they identify different characteristics of the chromosome mutation/deletion in different tests, but they essentially identify the same thing. While this is somewhat of a relief, we feel as though we have been run through an emotional decathlon of 'what if' scenarios over the past month and are completely exhausted from all of this. We will not be doing any additional testing for anything at this point.
Mira is still day to day. Saturday she had a rough day, lots of seizures and very irritable all day. Today was a great day for her - lots of smiling, good eye tracking, minimal seizures. It is a roller coaster for her to say the least.
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