Tuesday, April 29, 2008

SMEI Results

I received confirmation this morning on Mira's SMEI/Dravet's testing and it came back normal. This genetic test was one of the more exhaustive (and expensive at $6,200) genetic tests out there. The lab was looking at a very specific deletion/mutation of a very specific gene called SCN1A. She has pretty much gone through all of the major testing - Angleman's, Rett's, and now Dravet's.

At this point, we are probably going to do one more additional screen, called an Oligo Array CGH (Cognitive Genomic Hybridization). Basically, Mira had some similar genetic screens back in 2005, soon after her seizures started, but it was at a very low resolution, meaning it only picked up major genetic organization. The technology for genetic screening has advanced so much over the past 2-3 years, that they can now perform a much more exhaustive scan at a much lower cost. This scan (neurology refers to it as a 'micro-array') is an extremely high resolution scan that is able to identify many more deletions/mutations in DNA than ever. Before this can happen, we need to clear it with insurance, since it costs about $4,000.

Mira has been battling a cold over the past few days, but is doing alright. Lots of snot. Need I say more? Sarah has been dealing with the same thing now for two weeks. I think she is exhausted from it. I am hoping that Spring is just around the corner........

1 comment:

JSmith5780 said...

wishing everyone healthy, a return of Spring and as always answers to the "why did this happen" question.

BTW- my sister did get into Savannah College of Art & Design for her Masters in Restoration.