Monday, October 08, 2007

Report on the Conference

This past weekend we attended a regional conference on Tuberous Sclerosis. I have information overload. They did drawings for one-on-one meetings with various specialists, and we were able to snag meetings with Firecracker's surgeon-to-be and a geneticist. The genetics are too complicated to think about. Abby's genetics test came back negative for known mutations on the TS genes, but it seems that you can have the mutation in particular tissues (as opposed to the blood they test) and nowhere else, or there may be mutations they don't know about yet. So her labwork is going off to some research center to be mulled over.

They fed us well at the conference. That's more important than people think. We met many nice people, very few of whom had a child diagnosed so late. Some had children with severe autism and developmental disabilities. I met one person who found out she and her sister had it after their children were diagnosed. Dear Husband joked that he was going to Home Depot to buy a blacklight (to look for the characteristic depigmented spots on the skin). We're all very fair, so it's hard to see if we have hypopigmentation.

That's all for now. I'm tired and very sad about it all. DramaQueen is feeling insecure because Firecracker gets so much attention. I feel too tired to be nice to anyone. Someone at work ticked me off royally and I thought how annoying it is that people think I should give a damn.

On a postive note, the director once again passed along some PASTE cds, and he's promised to hand on a Sufjen Stevens CD. Finally I can find out what all the fuss is about.

8 comments:

  1. The stress must be huge. I feel for you and your family. Yo all have full plates!

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  2. I am just so, so sorry you are going through all this. Please give hugs all around from me and know that I am praying for you.

    Thanks for the visit...I wish I could say these stories end well...but it's October and I've got my Southern Gothic on in a big way. The train one is more spooky. But I'm thinking about doing some stories for November around the theme of "thankfulness" and blessings.

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  3. (((o))) hang in there as best you can . Allow Jesus to hold your hand :) and the rest of us to carry you in prayer.

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  4. I'm posting this comment on November 16th...wondering if you are all okay? Praying.

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  5. happy thanksgiving, bad alice. there are trials in life but God is bigger than those trials. we can be victorious because of Jesus. hang in there. (((HUGS)))

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  6. Just checking in. Miss hearing from you. God bless you and all.

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  7. 12/01/07 - I have been thinking of you and you family. You all feature in my prayers all the time. God's Peace.
    Shel

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