OH SO HAPPY!

Today we had consults with a geneticist and doctors at the Junior League Fetal Center at Vanderbilt.  They were awesome!  We felt so well taken care of by everyone there, and we got some really great and reassuring news today.

After a very thorough ultrasound and fetal echo, the doctors said they are very happy with the way baby's organs are looking.  They are not worried about her kidneys at this time.  Her omphalocele was classified as small by the surgeon, and he is confident that it will be an easy repair.  He feels that it is very likely that surgery can be done on day 2 and that she may be able to come home as early as the first week!  That sure beats the several months I've read about from others.  Time will tell.  We will, of course, have to remain flexible with expectations.   The single biggest factor at this point is keeping baby in utero as long as possible.  Some things working against us here are 1)  she is growing in the 91% for weight; 2) I have polyhydramnios (lots of amniotic fluid causing increased uterine pressure; 3) my cervix is short (although not dynamic as of now).  So, I am at very high risk for preterm labor.  They are not putting me on bed rest unless they see further changes in my cervix, which will be rechecked in two weeks.

We found out that the type of BWS that baby has is a sporadic event, which means we are not likely to have another child with BWS and baby girl is not likely to have a child with BWS.

So, for now it looks like we have the best case scenario for our situation.  We cannot know for certain what we are dealing with, however, until baby is born.  But, overall, the news we received today was GREAT

To explain BWS the best way I can understand it is this.  Baby's genetic info is all there and perfectly mapped.  The problem came when the maternal half of a pair of genes (?from cluster 15) on the 11th chromosome did not get turned on.  There is no explanation why this happened.  Baby did not inherit this and nothing that anyone knows of caused this.  It was just some random fluke.  The job of this part is to control cell growth, so since it is off, it is anyone's guess as to what will be the outcome of cell growth, and what parts of baby girl will be affected in a detrimental way.  Every case is different.  If the paternal half had not turned on, it would have had no effect, but because it was the maternal half that is "off" we got BWS.   This type of BWS is the most common.  It is very complicated, so I might not have it perfectly right.  This is just my understanding.