Wednesday, February 24, 2010
Blood Work and Snow Days
Chromosomal Microarray Analysis:
Chromosomal Microarray Analysis (CMA) is a new genetic test that can detect disorders usually picked up by chromosome analysis (karyotype) and disorders that cannot be picked up on a karyotype (including many single gene disorders). It may be ordered for any patient with unexplained mental retardation or developmental delay, unusual physical characteristics, multiple congenital anomalies, or possible gene deletion or duplication.
CMA is usually done from a blood sample, although prenatal CMA is available by performing a CVS or amniocentesis. In some cases, blood from both parents may be requested to better interpret a child's results. Because the CMA is a relatively new and sensitive test, it is possible that a genetic abnormality for which little information is available will be detected.
Madie and I went yesterday to get blood drawn to get this test done. Like how I sound all scientfic? Well I copied and pasted...LOL But its a good explaination of the test without me having to re-type in my own scattered words.
We waited nearly an hour in the lab area for the lab folks to get their heads together and figure out the colors of the tubes or the codes that did not match..ugh..who knew but the test was done and madie was trooper. brave girl.
It was just beginning to snow but we avoided any bad conditions as it did not begin to have the sloppy mix of ice and rain till later...its so gross out today! wet and cold..:(
Well madie is herself today..winey for diaper changes and making her funny noises..playing in her noisy box and sliming her toys as it seem everything she will get in her hands goes in her mouth.
Last night I tried a game that her therapist had done with her in her therapy by sitting her in my lap an rocking waaaay back and then up again and waaay back saying weeeeee as we went over...OMG she was Laughing sooo hard! what fun! She really loves movement play. swings and boucing and bearing weight on her feet when i hold her up. Hubby says he saw her grab her hanging toy on her noisy box and get her bum off the ground like she wanted to pull herself up!!! I was like "well where was the camrea!!" LOL she will sometimes put all her weight into pulling her toys and then SNAP they fall off and she falls back! Pretty funny but whoah mama ya gotta watch her good!
We are going to wait for the test to come back and then see about getting off banzel which Neuro has advised me aganst saying that their could be an increase in drops if we go that route now...well what can I do...Just keep her on for now. To be continued. If nothing comes from this test we will go ahead and test her for Retts..but I go back and forth with that one..dont know anyone who has a child with retts...I just know that madie has some of the behaviors...the hand mouthing is huge but also can be seen in other disabilites..
Like I say..To be continued. Im being summoned. Hungry Hungry Kid.
Posted by Jamie at 1:47 PM