Thursday, February 28, 2008

I might as well come to grips with the fact that learning what syndrome B has may never happen, and if it does it may be years away.

We met with the geneticist and I explained to her what has happened over the last 5 months. We went over her medical records and talked about the tests she's already had done and she examined her and measured every inch of her. She said she looked like a Fez child and I have no idea what that means. I never asked, which I should have I guess. The part of her collar bone which the Neurosurgeon mentioned is a "fat pad" and she has several others that she pointed out. I'm guessing she shouldn't have them as she indicated it was just another sign of a syndrome. She said that she had a large mouth and very large teeth for her age and said both ears were malformed. I never noticed her left ear was different but after it was pointed out now I can see it. She said that her heart sounded great and that if there were problems with her organs she wouldn't be thriving and gaining weight. After looking at her eyes she said that she has a "starburst" coloring which is common in William's syndrome and that she had the appearance of a William's child but that the Microarray test we already had done would of picked up that in 99% of the cases. That test checks for deletions or missing chromosomes and that she more than likely has a "misspelling" of a chromosome and that unless you know which gene to study it's like finding a needle in a hay stack.She did say she would consider redoing the test but wasn't sure if our insurance would cover it and the test was several thousand dollars. She also knows the geneticist we see here in Maine and said she would of tested for all the same things that she did and that she feels we are in good hands. She mentioned the undiagnosed seminar in March and I told her Dr. Smith was going to bring pics of B and she said that that was what she was going to ask our permission to do. She tried to get an appointment for today with a Neurologist but none were available and said she'd be happy to see Brooklyn again in 6 months to a year to see how things were progressing. So, I guess our final trip up here will be to see the Neurologist. She said she thought we should have her MRI repeated here but I don't know if that is something the Neuro will need to ok. And would you believe when we got home at 1:00 on Wednesday there was a message from the Neuro dept wondering if we could make a 2:00 appointment! If only they had our cell number.

I feel so defeated, I really had invested so much hope into this visit. And to hear "she is what she is" once again is so damn depressing.

On a happier note, we met with her speech pathologist today and she was very happy with her progress. She is drinking well using a sippy cup with a straw and is eating any soft table food. I even gave her a few Ritz crackers and she did great with them. She is also showing much more chewing movements and is using her tongue as she should be. She is no where near feeding herself but we will keep working at it.

And Cody is oh so thrilled to be having surgery on his rump on the 7th. We have to be there at 6:00am which will just be wonderful.

2 comments:

Minilegs said...

I found a couple of links...don't know if they will help but, here ya go

http://www.ucsfhealth.org/childrens/health_library/news/2003/03/21308.html

http://ghr.nlm.nih.gov/condition=williamssyndrome

http://www.specialchild.com/archives/dz-004.html

I can see why williams wouldn't be 100% as your Dr said. B has some of those but, not even most by your comments. I hope that soon they can find what you're looking for. The 7th chromosome would be good to look at if they do genetic testing.
Love you guys, Mel

Kitty said...

Keep plugging girl! You're so much stronger than you know!