We Could Not Ask for More: Emily stood today! Do you believe in miracles??

Wednesday, May 26, 2010

Emily stood today! Do you believe in miracles??

5 comments:

Jennifer said...: YAY Emily!!!!! I love how she shakes her head,"no" at the end!; May 27, 2010 at 9:18 PM
The Texas Trio said...: That ROCKS!!!; May 28, 2010 at 9:39 AM
Rebecca & Nathaniel said...: That is amazing!!! i am so proud of her! What a strong little girl.; May 28, 2010 at 9:08 PM
Anonymous said...: We love you, Emily!!!!!!!! you go little girl!!!!!!!! xoxo MEME and PePe; May 30, 2010 at 8:36 AM
Shannen&Makena said...: OMG she is so cute! LOVE the video!!!; July 14, 2010 at 1:00 PM

Emily's Chromosome Disorder

Karyotype:
46, XX, der (9) t(7;9) (p22.3;p24.3)

Unbalanced Translocation of Chromosomes 7 and 9
or
Partial Trisomy 7, Partial Monosomy 9

There is no syndrome name

(Translation in my words)
She has an extra piece of chromosome 7 that duplicated and attached to chromosome 9, where chromosome 9 is missing a piece. This is actually two chromosome disorders in one. She has a duplication (of 7) AND a deletion (of 9).

Update August 09:
Genetics is currently studying the 16 missing genes in Emily's missing piece of chromosome 9. This information may provide some reasons for her problems with high calcium and seizures.

Again, they can not say if it will shed any light on a prognosis.