This morning we took Sadie to have her blood drawn for the Angelman Syndrome UBE3A test, AGAIN! They screwed up the paperwork for the 1st test and therefore it had to be drawn again.
As expected, the lab tech blew the first vein and was unable to get enough blood out of her other arm. They had to call in the "Vat" team (i think i spelled that wrong, and i don't know what it stands for except they are supposed to be able to draw blood when the "regular tech" can't do it). Finally, after the 3rd attempt and endless poking with the needle, they were able to get 2 1/2 tubes.
Now for the 3-4 week wait AGAIN.
The UBE3A test is sequencing the genes on the 15th chromosome. It would be like getting number cards 1 to 1000 and you have to make sure each is in the proper numeric sequence. If 53 and 58 are switched that means they are out of sequence. If her genes are not sequenced correctly, she will have 2 documentable diagnosis. The gene sequence test will indicate if she has Angelman Syndrome.
Our life, our experience, our history, about my daughter with a rare chromosome disorder. She is missing a small portion of her 8th chromosome, which is called a deletion. She also has a small part of XP added to that. Her karotype or diagnosis is deletion 8p23.3 with extra xp22.2 to the terminal deletion (a new chromosome test summer 2011 changed her karotype to deletion 8p23.2 with extra xp 22.12, essentially meaning more missing chromosome 8 and more added xp). #herrarelife
Monday, February 2, 2009
Time is a Thief
I don't remember the first time I heard the sentiment, "time is a thief." Recently it is heavy on my mind. I haven't post...
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and the flu panic begins... http://www.cloroxclassrooms.com/downloads/teacher_brochure.pdf
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Sadie has been having spasm type clinch arm and mouth type movements that last about 2 seconds randomly starting in June. For the past mont...
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Today I was feeling the need to read other stories about other children with chromosome disorders. I googled blogspot to see if I could find...