Saturday, September 27, 2008

the "why" Dr

When we were at the Pediatric Monitoring unit Dr. P the why Dr. came to see us. It was a little like the Christmas Carrol. First day his resident came and had a bunch of questions to ask about family history that sort of thing (the ghost of Christmas past) then a resident came to just evaluate her on day 2 (The ghost of Christmas present). They were both super nice. Then on day 3, just after I'd stepped out the one time since we'd been there Dr. P came and talked to my husband to see if we'd like to work with him. Of course. Well when we had to have blood drawn to test the Depakote in her system he also ordered tests to see possible causes of her seizures. Here's the list!!! acylcarnitines, amino acids, ammonia, chromosome microarray, CPK, ketones, lactate, liver function, SCN1 sequencing, thyroid function, uric acid (bood/urine), and organic acids (urine). They drew about 10 vials of blood, but thankfully everything came back normal.
We went back for a follow up at the end of April. Since everything had been normal the next thing is the spinal tap to see what's bathing her brain. Still undecided about that. Though I think if the Ketogenic Diet doesn't work, it's a definite possibility. Also since we didn't want to do the spinal tap then, the other option he gave us was, when they tested her blood next we'd do a CDKL5 gene sequence, we did that and it also was normal.

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