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10.24.2010

GENETIC TESTING #1

We had Cole's first genetic consult. Here's the protocol...the Dr. will do the "write-up" for a Chromosone Panel to see if there is a mutation in one of his genes & if it was a fluke or hereditary. We are starting with a Chromosone Panel 1st because there were some issues that we all "adding" up...

-my 1st ultra sound while pregnant revealed "missing artery" in the umbilical cord (DRS SAID HE WAS FINE)
-when he was born his tempurature was very LOW...he was in the special care unit for 24 hrs. they did blood work and didn't find anything. (DRS SAID HE WAS FINE)
-He had a SUPER pointy head when he was born (AGAIN DRS SAID HE WAS FINE & IT WOULD LOOK BETTER AS HE GOT OLDER) now age 2, and still...pretty pointy and flat in the back.
-He has a funny hair line and his hair dosn't grow very well all over and 1 inch above his ears.
-His head is actually SMALL...yes SMALL for his body. It seems that it would be "normal"...but nope!
-He does have a "thripple"...no...it dosn't look like the others, but it just looks like a scar.

WHAT THE DRS TOLD US, WAS THAT...IT'S OK TO HAVE ONE OR TWO ABNORMALITIES...BUT WHEN THERE ARE A LOT...IT SHOULD BE A RED FLAG.

After the Chromosone Panel we will the the SCN1A Panel (for epilepsy). It takes a LONG time to get the "Write Up" submitted to the insurance, then we wait to see if the insurance will cover it. Then get his blood work done...then wait again! about 2 months. I am not a patient person...especially when it comes to my son. But I am trying to KEEP MY COOL!

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