W.E.S. Results...or maybe not

15 Weeks is up and we have our results back from Henley's WES (Whole Exome Sequencing). Adam and I went in today and chose to leave Henley at school to take part in "teddy bear picnic day". We felt like that was a much more important place for her to be today, rather than sitting around a conference table at the geneticist office talking about how complicated her genetic makeup is. Really, there is only so much a child needs to be exposed to in my opinion, and this is where I draw the line. I don't want her growing up constantly hearing us talk about medical stuff. I'd much rather her be playing on a playground with other 4 year olds, playing in the dirt, getting her clothes messy and having a picnic with her friends. She will have plenty of time to deal with all of this confusing stuff later on. 

So, I think we are maybe more confused than we were when we went in today. No real answers. Apparently some of these "findings" are so rare that the research hasn't been done yet, so we may not know what some of these findings actually mean or if they have any clinical significance for another few years.

What we DO know is that she is missing part of her 16th chromosome and according to our geneticist, that is a bigger deal and has more significance than any of the other things they found in this detailed test of her genes.

We are continuing to do our own research on 16p11.2 micro-deletion and will have the amazing opportunity to get to meet the other families that are just like us this summer at a family meeting in Philadelphia. We will get to speak face to face with doctors and research teams who are studying this very rare genetic condition. Not only that, but they will get to meet all the little rock stars they are doing research on!

The GREAT news is that Henley does not have any pre-dispositions to any types of cancer. What a HUGE blessing that is to know.

Thank you all for the continued prayers. We were told today that we should probably start a savings account for Henley for when she wants to have children of her own. Geez Louise!!! Let hope that is at least 20 years from now. I'm going to need that long to prepare.