Sunday, November 18, 2012

Metabolic Disorder?

I'm waiting in the hospital for Gili to see a new specialist who just returned from London. The results of her MRI were inconsistent with congenital CMV and indicative of a degenerative metabolic disorder. I looked into the main one mentioned in the results - adrenoleukodystrophy (ADL). That's what ''Lorenzo'' had in Lorenzo's Oil. All her symptoms and previous tests still feel more consistent with CMV. But hey, things were getting boring around here, right? The private neurologist (Dr. Ashkenazi) called my cell phone when I was in the dollar store with Big Sis buying party favors for Gili's third birthday in school. So Big Sis is thirsty and needs a restroom, and I'm in a corner of the store trying to memorize all the details the doctor was giving me. I didn't think there were a lot of things worse than CMV. I thought they might tell us she was probably having seizures, or a chunk of her brain was missing, but I was not ready for them to start throwing around a word like ''degenerative''. Now it's 2:00 pm and our appointment was at 10:30 am! I hate this department but I've never waited over 2 hours!

Happy birthday Gili! So, that passed; along with the 50% chance she would walk by the time she was three. Thank G-d she is still making progress. She's feeding herself better and standing and cruising better, and I do think she will walk one day. I don't have much hope for her ever talking. I'm not sure if I'm supposed to cry about that. I guess I've always felt that this is just how Gili is and how she was meant to be, and we are lucky she is in our lives. I try not to think about what if I was more careful when I was pregnant, or what would she have been like if an evil virus hadn't eaten away at her brain while she was developing. But I have had some darker thoughts lately.

When I was holding Gili yesterday I starting making up a ''once upon a time'' story like I do for all the kids, with some moral or analogy. This one was a tad morbid. But aren't all fairy tales? I'll post it later.

I guess I should say something about the Israeli ''situation''. The news has been on all day in the hospital, but I don't understand a word. They are showing clips of missiles but I don't know the details. I actually heard an air-raid siren as I was entering the hospital this morning (a very long time ago it seems), but I think it was in another city, because people inside didn't here it. Then everyone was watching the news and the caption said something about Gush Dan, which is technically the greater area including Petach Tikva, where we live. We don't live in a very safe building and I'm confused about what we're suposed to do and what kinds of provisions we should have in the house. Maybe we'll order two pizzas for dinner and freeze one :-p

Oh, some good news!! While I was waiting, I got the dental specialist to check Gili's teeth and they are... Drum roll please... Okay! She survived all that grinding and falling asleep after bottles! Woohoo! Unfortunately, the dentist woke her up after she had finally fallen asleep in her stroller. Amazingly, she seems to be in good spirits.
I kept going back and forth about who would take Gili to this appointment. I couldn't find someone to watch Lil Bro, and Hubby wouldn't let us both go with him. Last night and this morning I started feeling bad about not spending enough time with Gili, so I decided I'd take her. But now I'm just tired and hungry. Not exactly having the great mother-daughter day I had planned.

HERE'S THE REPORT ...Five hours later...
I should have known this, but I couldn't read the MRI results in Hebrew. The results showed demyelination - some regression in the development of the white matter. We waited so long because we wanted to see a specific doctor who speciallizes in metabolic disorders - Dr. Avraham Zeharia. He mostly asked us a lot of questions about her history.
Gili is just barely within the normal hight for her age (she can reach the stove!), but her weight (10.9 kilos) is low. She is boarderline microcephaly. Her spleen is still a little enlarged, but he didn't feel it at first because it was near the back (whatever that means). We have to go back on Tuesday morning to take LOTS of blood. Some of the test will get sent to Jerusalem. They're doing tests an amino acids, organic acids, long chain fatty acids, and so on. They will also test her for the genetic Gaucher's Disease. One test requires her to fast for four hours.

Then we'll go back in two months to discuss the results. Unless they call us before then. But for the next two months, no news is good news.  Dr. Zeharia was appalled (as I am) that Gili was not currently getting physical therapy (the therapist is on maternity leave) and that her school doesn't have communications (speech) therapy this year. My friend, a nursing student, met me in the hospital around 2:00 pm and went in with me. She said that this doctor is very good. But for Gili's sake, I hope we won't be seeing him too often!

Note to self: Schedule BERA (hearing test).1

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