Wednesday, March 3, 2010

A different kind of miracle


At the hospital we were bombarded with tests and a medical team. After having such slow progress in diagnosis it was a bit overwhelming.
First we met Ava's dietitian, Cindy. She explained the diet to us and what we would expect throughout the week. She said she would visit everyday and give us new information a little at a time so we would not be overwhelmed.
We then were scheduled for an EEG but so far Ava had not eaten since 7 pm the night before and it was now 2:00 p.m. Her reading showed a marked improvement but every other page still showed a messy wavy picture of seizure activity.
Then she was seen by an opthamologist to see if he could diagnose her. Unfortunately the doc was fresh out of school and although he did a thorough look at Ava he admitted his experience was lacking indeed.
One of the features of Ava that stands out for me is her inability to cry tears. Her eyes are moist, but tears never overflow. They did a quick search and came up with Allgrove syndrome. Because Ava's eyes are moist though they do not worry about this.
I find that extremely frustrating because If you try to find a diagnosis for seizures and developmental delay you are fighting through thousands of possibilities, if you add alacrima, the list narrows significantly (like less than twenty I think).
Here was the key to finding out why, but I have spoken to three opthomologists and her neurologist without getting much interest back. I will pursue this matter more aggressively soon.
That same day we met with a geneticist who was pretty cool.
Within the first five minutes she had questioned things I had wondered about after two months of googling. Biotenaise and angelmen being two in particular.
The diet had begun and food was sent up three times per day. We had a few learning bumps where Ava could not possibly swallow what was sent. She had been experiencing a downfall to her great eating where everything was making her gag.
But by the third day something quite amazing happened. Ava was in a high chair in our hospital room and my husband banged his hand down on the table in front of him and said bang to Ava.
Ava slapped her own hand down in imitation and grinned. Craig did it again, and so did she. Then he did it once more but stopped before making impact. She stopped too and gave a real belly laugh like hey you tricked me.
That was the first sign that something was changing.
I wouldn't say that the fog that surrounded her has lifted but I would definitely say that it has expanded to include a lot more so that she is more aware to what is going on around her.
It wasn't the absolute miracle that we were hoping for but it is the first step in learning. Without that interest there couldn't possibly be progression.

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