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


  1. I'm on it!

    Allison N.

  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?

  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

  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

  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!