Mitochondrial Disorder?

Rosalie has had three doctor’s appointments, fourteen vials of blood drawn and a whole lot of seizures in the month of October.

First it was the visit to her regular neurologist, which you can read about here.  Then it was to her Autism doctor who ordered 9 of the vials of blood to be drawn.  Then it was to the second opinion neurologist who ordered 5 more vials of blood, a 72 hour video EEG, and a trip to the geneticist.

Well, yesterday we got SOME of the bloodwork results back.  Other than abnormally low white blood cell and lymphocyte counts, her CBC was normal.

The acyl-carnitine plasma levels were drawn and 5 of the levels were higher than they should have been.  What the heck does that mean???  Well, remembering that this is just a screening tool, and not a final test, it means that she likely has a mitochondrial disorder of some type.

Yeah, a what?  I wasn’t paying attention in science class – and that was a hundred years ago anyway… so what’s a mitochondrial disorder?

You know how your body uses the sugars from the foods you eat to give your cells energy?  Well, once the sugar is all used up, your body starts converting it’s fat stores into energy sources.  When you go on a diet you eat less to lose weight – you know – your body starts breaking down fat because it isn’t getting enough food to energize the cells. Well, the way I understand it (and believe me, I could be wrong here!!!), there are enzymes that your body has that break the fats into energy (sugar?  don’t know).  If you have a mitochondrial disorder, you’re missing some enzymes.  That means that your body uses the sugar in the food you eat, but then when it runs out of sugar it starves because it can’t turn the fat into energy efficiently.

Hopefully I’m not giving you all a horribly convoluted recounting of what the real issue really is.

But anyway, this screening tool (the blood sample) came back and the doctor that wrote the report said that Rosalie could possibly have a mitochondrial disorder or a metabolic disorder (metabolism – converting the food into energy).  This could be why her seizures are so hard to control.

Anyway, the other bloodwork isn’t back yet – it takes forever, at least when you’re trying to wait patiently.

We are waiting for genetic tests that are fairly specific, such as Fragile X syndrome, and ones that are more broad.  Each test is another piece of the puzzle to either rule out or give us light on what is going on with Rosalie.

Rosalie is heading to a geneticist mid-November, and the video EEG (3 days) is scheduled for the beginning of December.

I’m sure we’ll have to make a few more trips back to the lab after seeing the geneticist, and we’ll then go back to the neurologist.

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