Baby

Okay, so I wrote that last post on Tuesday and I forgot to post it.  I had my appointment with my geneticist and had the ultrasound yesterday.  So this is a late update kind of but I wanted to remember how I was feeling before this appointment. YOU GUYS!!!!! I just can't believe how that day went.  I started the appointment getting my ultrasound done.  They checked all the major anatomy and everything with the baby.  We looked at the heart chambers, checked out the hands, and did some 3d of the hands.  From what we saw it was pretty clear only four fingers and a thumb on both hands!!  No extras!  The ultrasound tech finished up and printed off pictures to show the geneticist to see if she wanted any more pictures.  As I was waiting for the tech to come back I got a call from the children's hospital.  Winnie's geneticist!  Her test results came back!  The test showed she does have Pallister-Hall but the odd thing is that the GLi3 malformation is not in all of her cells which is extremely rare.  To me that makes TOTAL sense because she doesn't have "full" Pallister-Hall in many aspects.  I know that's not the proper terminology but her learning, cognitive functions, and speech is all perfect.  Other than the phsyical issues and seizures she's perfect.  So the fact that the gene mutation isn't in all of her cells connects alot of dots for us.  I am relieved that we got our answers confirmed.  And now it all is adding up and becoming clear.  From my understanding, in that quick 5 minute phone call is that this rare case is called mosasims of the GLi3 gene. With this condition being even more rare than Pallister-Hall the chances of this baby, and all of our other baby's, having what Winnie had is even more rare!  I let out the biggest sigh of relief as the genetic counselor was telling me all of this.  What a miracle.  The lab that ran Winine's blood is obviously excited about this rare condition and want to do some complimentary genetic testing on Winnie and some on Dayton and I.  Yet again, another huge sigh of relief!  Monday we meet with a team of genetic doctors and nurses to go over all of it in more depth.


Things could not have worked out more perfectly.  After I got off the phone I was able to go into this genetic appointment, for the baby and I, with all this new information.  I could then turn down genetic testing for myself because we can get it done with the other hospital.  I've never been so happy!  Like I mentioned in my last post, timing is everything.   This is better than I could have ever imagined.   I may actually be done talking about genetics forever!!! haha  I go through this vicious cycle of worrying non stop about the future then a series of events convince me it always works out then I'm fine for a little bit and of course it starts all over with something new.  Man, I've got a lot to work on in that area but instances like this keep reminding me that it's the complete truth.  It always works out.    We're happy over here with alot of good news, a healthy baby, and a cute toddler who still won't stop saying, "oh crap". :)