Geneticist appointment in the a.m. And PCP in the p.m. We got lucky and spent a great 45 minutes enjoying the sun and beautiful weather.
There's a newer better Microarray test that shows the bands of genes on a chromosome up to 2,000,000. It's called the SNP (pronounced snip) Microarray. The last test Sadie had a year and a half ago was the CGH Microarray, which showed up to 1,000 bands.
This is so important because genes control more than just hair and eye color, they also control, block, and communicate (epigenetics) with tumor receptors, cancer, other medical issues that might come up. Knowing which genes are missing, in Sadie's case, will help us keep a close eye on any potential medical issues. We know that Sadie is missing the gene that suppresses bladder tumors. So we will monitor her bladder.
Etc etc etc....
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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
Tuesday, May 4, 2010
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...