Thursday, February 28, 2008

Quiet Times

Not much has been happening over the past few weeks, thus the break in posts. Mira is still seizure free, going on almost 4 months! We did have Mira's neurology appointment on Monday, which lasted about 2 1/2 hours. Her final results on the Rett's testing, for the typical MECP2 type, came back negative. After much discussion, we decided to do some further genetic testing, for Dravet's Syndrome. The decision was based on Mira's poor reaction to Lamictal and Diamox last year, both of which act in a specific way in the body, through sodium channels. Her adverse reaction to particular medications is sometimes a clue.

Dravet's, also referred to SMEI (Severe Myoclonic Epilepsy in Infancy) is usually attributed to a specific gene, referred to as SCN1A (and also SCN2A). Mira will be tested for this, but as with all of the other genetic scenarios that she has been tested for, it is unlikely that she has it.

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