Friday, February 8, 2013

Study

In the mail Saturday we got a brochure and letter asking us to be a part of a study being done by the Emory Genetics Lab here in Atlanta.  Emory is awesome, this hospital is awesome, we love everyone and we say yes to whatever we can do for them.

So I let them know we were coming up Tuesday and the study team has been following us since we got here - waiting with us, getting to know us, filling out papers, getting blood samples from Ellie in the OR and having Jeff and I spit in little specimen cups!  The study is specifically going to place Ellie in a "group" of children that have Down syndrome and a heart defect.  The statistic is like 40% of kids with DS have the heart problems.  We have a 3 year old girl on our street with DS and no heart defect.  That makes a statistic of 50% for our neighborhood. :)

Lots of interesting questions about lifestyle, diet, habbits, family history, health questions.  All reassuring to confirm that DS happens on a cellular level before the pregnacy even begins but they are just hoping there is something, anything to try to prevent the heart defect part of it.  They are expecting not to find much but that is why they do these studies because you just never know.

We also got confirmation that our children have absolutely no greater risk of having a child with DS than we did.  I was especially curious for Julia as a girl but Ellie has the type of DS that is "flukey" not the very very rare kind (less than 5%) that comes from the father's DNA and can be hereditary.  The chick was just meant to be our daughter and their sister and she is most definitely one of a kind.  But aren't we all?  :)