Tuesday, October 27, 2009

Met with Genetic Doctor (Day 9)

I just finished an hour long blog to you guys and I lost it. I am sorry for the delay. Trust me when I say that the last blog was very eloquent.

Natasha our nurse (who is single if anyone knows a very nice guy in St. Louis. )
Saw that we were freaked out about her diagnosis. She took it upon herself to have the Dr. come over and sit with us and answer her questions. She is a wonderful person and nurse.

So the Dr. Came over and answered our many questions. My previous blog, the lost one, went into word for word how the meeting went. Here is the nutshell.

The diagnosis does require 5 factors. The Dr is absolutely convinced based upon his examination of bayta that she has the sternal defect. He does not believe it is worth exposing her to radiation to image the minor defect. According to him knowing it is there will not change how we treat her in ANY way.

He believes the prevalence in the general population is slightly less than 1 in 5 million. He stated that he believes that many hospitals would look at Bayta's condition and not figure out what she has. He has seen 2 or 3 in his career.

The test he has ordered is a micro array. Amanda pinned him down artfully into admitting that the test will not do us any good. It will help researchers and might help bayta when it comes time for her to have a little girl of her own.
The Micro Array looks at her chromosomes on a much finer levelthan the normal genetic tests. THe micro array has only been available for a few years so Bayta will be one of the first to be studied by the Micro ARRAY.

The current belief is that this is a x chromosome issue so both families contributed equally to her genetic material. Part of his research involved a detailed study of both the Hemphill and Whitehead lines. While he was generally impressed with the Hemphill lineage he had several questionable unions identified on the whithead side. In fact he asked Amanda to come back and discuss some of her relation with him in 6 to 8 weeks when he had more time to put together a formal team.

The really cool thing he said to explain why Bayta has done so well has to do with her being a girl. Girls are simply not affected by P O C like boys. This is becasue 2 X chromosomes are passed thus allowing one to be bad and a redundant one to cover for it. In thinking back to the cases we have seen we have to agree with what he is saying. Amanda and I can think of no girls we have met on the internet. Tammy sent us an example of a "friend" of ours Aiden. He is the son of a mother who blogs about his adventures with P O C. While he has done well he is still about a year delayed and has a trach tube and still is unable to eat through the mouth. It is a scary. Aiden's story is one of the first we came across after our "O" diagnosis. And one of the reasons I decided to start this blog. Small world.

Allison Nugent got back to us with her research and it pretty much squares with the Dr.s meeting. She informed us of a study for 2 year olds and we will try to get Bayta into... but that is for another blog.

Gotta go... bayta is ready for her next feeding!

PS I might have exaggerated what the the genetisist said about the Whiteheads.


  1. Have Amanda tell you the story about how she almost went out on a date with one of her distant cousins :)

  2. Darick and Amanda, Bayta is such a beautiful baby. My prayers are with her every day. She sounds like a real fighter.

    Sharon (your partner in Kathy & Darold's wedding)