--An Orphan No More--


Tuesday, December 14, 2010

The results are in.....

We finally got the results back from Everlyn's "chromosome analysis." Surprise...she has Down syndrome. LOL!

Actually - we did get a bit of a surprise though. Before and during her adoption, we were told that she had "suspected mosaic Down syndrome" or "slight Down syndrome" or "Down syndrome, but not deep" (my personal favorite.) Well, she does not have mosaic Down syndrome after all. But she does NOT have non-disjunction Down syndrome either...that is the most common form accounting for about 94-95% of all cases. This is the karyotype you see with 3 pretty little 21st chromsomes lined up nicely at the 21st "pair."

Nope - our girl has to be a bit more complicated. She is believed to have a Robertsonian translocation 21:21. What does THAT mean? It means instead of having the nice little trio of 21st "chromies" lined up, she has something more to the effect of "siamese twins and a singleton." Yep - two of her 21sts are stuck together, sitting nicely next to a third 21st.

What does this mean for Everlyn's health and development as opposed to mosaic DS? Not a darn thing really. :o)

Our tiny dynamo has gained TWO lbs in the past 6 weeks! WooHoo! Grow sweet girl grow!!!

And because I know you love pics, here are a few new favorites!!!


Mel said...

Very good information to have!! Glad to know that you might be able to help somehow get the word to the parents. I hope they are able to let them know! She is such a cutie pie!!

Jo said...

I'm Jo from Italy and I've been reading your blog for a couple of months.
First of all, Everlyn is so beautiful! Many, many congratulations!
I'd also like to point out that not all Robertsonian translocations are inherited, but they can also happen during or shortly after conception. My daughter also has the 21-21 translocation (talk about rare!), while me, hubby and our older daughter all have "normal" chromosomes.
However it would be great if word somehow got to Everlyn's biological parents especially given the likelihood that they didn't do her karyotype at birth.
I really enjoy reading about your new life, hope you will continue updating the blog.
Merry Christmas to all your family,

dottie said...

She IS a princess. Beautiful in her pictures.
I pray her birth parents have not had any more children and that they can somehow get word to them.
Have a wonderful Christmas with that precious little one.

Mandy said...

She is certainly beautiful!
Our bio. son has 14/21 Translocation Ds but we aren't carriers :) We say he's super special!

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