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.

OH SO SWEET

I woke up feeling terrible this morning.  I was very uncomfortable and not quite sure what was going on.  While I was trying to figure out what might be up, I realized I hadn't felt baby girl kicking all morning, and morning is usually her busiest time.  So, I went to work in tears fearing the worst only to peak in on a VERY busy baby girl who had just flipped back into breech position after being vertex for a while.  So, I got much relief AND some cute pics and video of baby sucking her thumb (22w4d).

This afternoon, I had another ultrasound and fetal echo with my high-risk OB.  By the time we got there, baby had decided to flip back into vertex position, and I started feeling the kicking better again.  Baby girl is growing very big, and she is surrounded by a lot of fluid, making me look and feel like I am in my third trimester already.  While her kidneys are prominent, the doctor says they are still within a normal range for now, so that made me feel much better.  Her omphalocele is also getting smaller, which will make surgery easier.  Things can change as she continues to grow, but for now the news is pretty good.  Tomorrow, we have more doctor consults with the people who will be handling her after delivery.  

I feel like I am getting stronger each day and that the momma bear is coming out.  I was around babies last night and did pretty good even after they left.  At first, I tried avoiding one-on-one interaction with one, but ended up holding and rocking her to sleep and loving every second.  I am starting to feel that I really will be able to handle whatever comes our way.  So, move over BWS.

Next Wednesday, we have another ultrasound and consult with our high risk OB, and the following day we have consults with a slew of other doctors--a geneticist, pediatric surgeon, neonatologist, etc.--I can't remember all of them.

Currently, baby's O looks the same, her kidneys are still prominent overall (not as echogenic but starting to enlarge a bit with some reflux), her abdomen is measuring ahead of her dates, and I have polyhydramnios (excessive amniotic fluid, upper limits of normal is 24 cm; I have almost 30 cm at 21 weeks gestation), and she frequently appears to be wrapped up in her very long cord.  All of these things go with the BWS.  I would like to say I am handling this well, but I'm not.  If I am not focusing really hard on something else, I cry.  You'd think I'd run out of tears, but I don't. 

"O" NO 

So we got the call today we were hoping not to get.  Baby girl has Beckwith Weidemann Syndrome.  In the back of my head, I have been worried about this for a while due to a number of things I have been seeing on ultrasound, but I was hoping it was just me worrying.  It wasn't.

 http://www.beckwith-wiedemannsyndrome.org

"O" SO BIG

We are 20 weeks today, but oh boy, am I looking bigger than that, and so is baby girl!  Her abdomen is measuring almost 2 weeks ahead, and she is swimming around in an excessive amount of amniotic fluid.  So, I am looking more like I am 28 weeks pregnant right now.  No wonder prenatal yoga is already getting much harder.  Yikes!  Here is a pic of baby touching her toes at 19 1/2 weeks.

And here she is just looking cute.