Ok, one more thing for the day.
We finally got the results for Sadie's Chromosome Microarray test, which show in more detail the genes that are affected with her karyotype.
Luckily, not much changed. She is still missing the 8p23.3 region of her 8th chromosome. However, the difference came with the additional xp material. The original Chromosome Analysis test showed additional xp22.13, but we now know that it is a shorter band of material with the addition of xp22.2 material. The genetic counselor said that additional material usually doesn't make a lot of difference, it is the missing material that has the most affect.
Pretty neutral information, not helpful, but not hurtful either.
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
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...
-
and the flu panic begins... http://www.cloroxclassrooms.com/downloads/teacher_brochure.pdf
-
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...
-
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...