Hannah is our youngest daughter, she turned 13yo in July 08.
She has a very rare chromosome deletion. She is missing 4 bands on her chromosome #1 q 21-25. Kids with downs syndrome have an extra chromosome and Hannah is missing some...our chromosomes control a lot, hair and eye color, height...etc. Chuck and I have "normal" chromosomes so Hannah's deletion is what they call sporadic, it's not genetic from us even though it's genetic :)
Hannah is a sweetheart and a blessing to everyone who knows her. She is deaf/blind but we still don't know what she sees or hears...she does get mad when we go to suction her LOL This is one of my favorite pics of her...she takes better pics asleep, she wiggles so much and always keeps her hands in her mouth.
She is developmentally like a 3 or 4 month old baby. A lot of that is due to her deaf/blindness and her seizures and seizure meds. I like to think she doesn't know she is different :)
She has her own webpage that I keep updated but I may just start using this for most of her updates.
http://www.caringbridge.org/visit/hannahgrace95
1 comment:
Wendy’s chromosome abnormality is very rare also.. but her’s is honestly so complicated that I can’t tell you what it is unless I look at it on a piece of paper.
a. 46, XX, der(7)t(7;10)(p22.2;p15.1) de novo
b. nuc ish(DXZ1,RB1,D18Z1,D21S259,D21S341,D21S342)x2
c. arr 7p22.3p22.1(136,363-6,480,604)x1,10p15.3p15.1(128,680-3,820,075)x3
That’s Wendy’s chromosomal make up. We’re very lucky she doesn’t have more medical problems seeing as she has so many deletions and a translocation.
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