Friday, January 12, 2007

Beginning a Journal

We took Peyton to her neurologist yesterday afternoon. He is extremely dedicated to her case and is constantly researching. He is baffled by all of Peyton's conditions. Until recently, he could not find a single syndrome which could explain why Peyton was born with all of her issues.

Peyton had an MRI done on 11/30/06. It confirmed the things we already knew - the partial agenesis of the vermis and underdeveloped cortex. She had been classified as having a Dandy Walker Malformation. In addition to these problems, it was noted that she has a possible dismyelination disorder - the brain is either not myelinating at the normal rate, or it is myelinating abnormally. Neither sounds good. Also of significance was the presence of a bony protrusion and a tightening at the craniocervical junction. We are to see a neurosurgeon next week, 1/18/07, to find out if surgery is recommended. We don't know a lot about what this means, but the doctor has some serious safety concerns with Peyton. There is the possibility that if she were, say, to get whiplash, a very serious spinal injury could result. We need to be extremely careful with her.
In his reasearch efforts, the neurologist has come across the possibility that Peyton may have Trisomy 17 Mosaicism - a variant of Trisomy 17 where some cells have an extra 17th chromosome. There are only 4 known cases of this syndrome in the world. When Peyton had her latest glaucoma surgery on 1/08/07, her neurologist went in and did a skin biopsy in order to have some genetics testing done for this syndrome. She did have genetics testing for 500+ disorders and that all came back fine. This disorder is more subtle than what can be detected thorugh a blood test, hence the skin biopsy. We will see what that testing reveals.
This particular visit to the neurologist was probably the scariest. He is very concerned for Peyton in terms of her safety, her mental and her physical development. He did not say a whole lot, but we felt very much like this was the most grim he's ever been.
We'll keep you posted once we see the neurosurgeon next week.

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