Saturday, May 2, 2015

OAs + IEMs

Mira had a few decent days toward the end of the week, but ended yesterday by having another intense tonic-clonic. It's really heartbreaking to watch her be in a great mood, smiling and even giggling, then have a seizure that completely wipes all of that out.

I have been consistently following up with GeneDx with Mira's comprehensive panel, but the only response I get is 'we are looking into it and will get back to you shortly'. All we really need is a confirmation on whether or not insurance will compromise and pay (not likely) or to see if we can get it for a reduced, out-of-pocket rate (perhaps more likely) but we need to know what that number is, if there is one. They originally told me that it was going to be around 72 hours before they can formulate a response - that was over two weeks ago.

I also have started looking into OAs (Organic Acidemias/Organic Acidurias) which is something I have come back to time and time again, based solely on her neurologist's notes years ago and observations we see with Mira every day. Early on in this epileptic journey, when Mira was about a year old, she had labs run that came back several times with elevated beta-hydroxybutyrate (BHB) levels, with lactic acidosis. She also had an  elevated pyruvate level on several occasions. We were told that what was most noteworthy was her consistent elevated BHB levels, which could be a sign of a ketolysis disturbance, which is more of a metabolism issue (IEM - Inborn Error of Metabolism). At the time, her neurologist ran testing for GLUT-1 and a few other OAs, but came up empty, I believe.

Mira has also periodically has 'altered' days - days where she is really out of it. Clammy, cold hands and feet, very lethargic, and staring into space, almost to the point of being unresponsive. We have brought this up with neurologists in the past and they have chalked it up to dystonia. I have always wondered if these could be considered metabolic crises.

I have asking her current neurologist about the likelihood of Mira having an OA, IEM, or something in that realm and am waiting to hear a response back. Never hurts to ask questions and to keep looking.

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