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
Friday, July 16, 2010
Microarray SNP results
Hello everyone! Sadie had the Microarray SNP test and a CBC blood test. We found out today that she is anemic and will be taking iron supplements. The SNP test showed that her new karotype is deletion 8p23.2 extra xp 22.13 to the terminal deletion. In short, she is missing more chromo 8 than we originally thought an...d she has a larger band of extra xp than we previously thought too. What does all this really mean....???? Not to much, nothing has really changed....I wish I could say differently, but Sadie is Sadie and she will continue to show us her path.
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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Last year at The Arc of Virginia State Convention in Charlottesville, VA, Simon Sinek spoke about the "Power of Why." This has b...
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The last post described Sadie saying "DAD" for the first time. I regret to say that that has been the only time thus far. Strang...