Tuesday, October 27, 2009

Are you sitting down?

We were just diagnosed with pentalogy of cantrell.

My head is spinning. The surgeons disagree because they say four does not a pentology make. Dr Anna says it will be five if we took the time tonimage her chest. Apparently the genetisist diagnosed it. As a result a genetic screen is being performed. It will take three weeks to get the results ( I am still waiting on the results of the first genetic tests from last week that were only going to take a day or two!!!)

One in five million diagnosis. If memory serves.

She seems so healthy. If you happen to be a genetics expert please let me know about this latest screen. The board wants this to be the top priority of our research division. ;)




-- Post From My iPhone

5 comments:

  1. I'm on it!

    Allison N.

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  2. Does this diagnosis mean anything in terms of how Bayta will develop or does it just explain why she has faced the challenges that she has?

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  3. Wow! I thought it was 5 as well from what I've read. It's amazing how things change so quickly, but she will be just fine!

    Big Hugs - Tiffany

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  4. Hang in there budddy! It's the same battle, same playing field, and same beautiful baby. A title means nothing, just a label that makes it easier to classify for the doctors. Keep fighting and we'll keep praying. Let us know if you need anything.

    Love you,
    Thor, Catherine and Colin

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  5. Do you want to talk on the phone about the microarray? It was something I was going to suggest but knew if you saw a geneticst they would order it anyway. I assume the first genetic test you are talking about was them redrawing her chromosomes? I don't think they would still be worried about BWS w/everything else going on. There is a finer resolution on blood than amniotic fluid, however the microarray is the gold standard now on blood. I can explain better in person or on the phone probably. Or they should have a genetic counselor on staff as well. Bottom line is you may find out genetically "why" she has POC but the cosmic "why" is a different question, and a different answer. hugs to all of you!

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