Monday, February 2, 2009

Another morning at the hospital

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.

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...