A Post Way Overdue...

...I am not going to say that I've been too busy, or too overwhelmed...though that is true. I have put off writing this post as I just honestly didn't know what to say or how to say it. I feel like we are still in the "information" stage of things and nothing is for sure, but it won't be for a while so it is time to update you all on our life the last few weeks...

At my 34 week appointment (10/27) with my midwife I had my regularly scheduled NST - baby failed again. His heart rate went down (decelerated) during my contractions. Because of this my midwife wanted me to have a BPP - an ultrasound check where he has 30 minutes to get a score based on his movement, tone, breathing, etc. Turns out her tech was too busy so they sent me across the street to L&D yet again. She thought it was a good idea I be monitored for longer anyways. I thought this was all just all old hat - it was the 3rd visit in 3 weeks.

Sherman met me there just in time to go down for the ultrasound. The ultrasound tech was thorough - very thorough. Which I am eternally grateful for - but I almost blacked out from lying on my back which was a first for me - dimming lights, murmured, distant voices..."I think I'm gonna pass out." How unpleasant is that feeling? Very. So he did the test with me on my side. From here on out this is how I've done my ultrasounds as baby is so large he presses on my large blood vessels and drops my blood pressure. Anyways, I was a little out of it at that point, but I did notice the tech asking lots of questions - about my prenatal care, my other ultrasounds, etc. I started to worry. He then spent a very long time in another room with a radiologist before he released us back to our hospital room.

The on call doctor came in the room shortly there after and said she wanted to keep me over night. We were not expecting that. We would be even more shocked and confused over the next few minutes. She continues to say she would have kept me based on my failed NST and failed BPP ultrasound (baby wasn't practice breathing)....but she also says she wants us to meet with the high risk doctor in the morning based on some other ultrasound "abnormalities." I asked what they found - she said echogenic kidneys (meaning something on them), ascites (fluid around the abdomen), and a hydrocele (fluid around the testicles). She was unsure what it all meant together so we'd have to wait until the morning.

What a long, painful wait. I spent the next 12 hours hooked up to the fetal monitor trying to sleep while listening to our little one move all around. The nurse said he looked great all night - especially for a 34 weeker...he was so active, and never fell into a sleep pattern...hmm I can see our future now...

We went to meet with Dr. Robilio the perinatologist (high risk OB doctor) and they did another ultrasound. Baby measured about 7 lbs 11oz - in the 96th percentile. His tummy measured at 41 weeks! We instantly felt comfortable with Dr. Robilio. He is the kind of doctor that is aggressive in a way - doesn't pull any punches, and yet delivers things in a very sensitive and caring way. He initially wasn't too concerned...but he mentioned I did have an excessive amount of amniotic fluid, and that baby's kidneys were measuring really big. He then spent a lot of time looking at baby's face. We all noticed him sticking his tongue out - we thought it was cute. Dr. Robilio got quiet, turned it to 3D and started taking pictures.

He turned to us and said he was concerned - babies don't play with their tongues like that he said. He continued to say all his findings combined with a child who apparently has a large tongue leads him to think of a syndrome called Beckwith- Wiedemann. We heard the words, "it is a chromosome disorder." Our hearts sank. He said he was going to get us some more information and call the UW and left the room. We were scared. Sherman googled it on his Blackberry and we became more scared. I cried the next 2 days. We had made it so far with trying to get pregnant and now being right at the end and discovering our "perfect" healthy baby may not be so after all...

Beckwith-Wiedemann is a syndrome that results in overgrowth - babies are born big and continue to grow fast for the first 8 years. One of the hallmark signs in macroglossia - an enlarged tongue - which can pose some issues especially the first few months of life with breathing and feeding. Some will need tongue reduction surgery, although many "grow into" their tongues. Severe low blood sugars the first week are also a big concern and require aggressive treatment. We are planning a delivery - probable csection at UW as a precaution as they simply have the best of the best specialists there if he needs any intervention at birth. Enlarged abdominal organs are another issue, as well as defects. We think he has a hernia causing some fluid in the testicles, but this is minor and may or may not need surgery. Another major concern is risk for tumors and childhood cancers the first 8 years...up to 600 x's more chance of certain kinds. Very scary in theory, but they do every 3 month ultrasounds to catch things early. There is a huge spectrum of symptom severity and we are of course hoping that if our sweet boy has this it is on the mild side of things. Him making it to full term in and of itself is a huge advantage as many are born early due to rapid growth and fluid levels stressing the uterus too much.

If you google this like we did you will find some pretty scary stuff...I could hardly look at pictures the first day. But I have spent more time on support boards, etc. and have found the most beautiful, happy children who for most part do well. Some certainly have more challenges than others. Most will have a few health concerns and problems the first few years, but end up with no problems as adults.

Here are a couple of links:

http://en.wikipedia.org/wiki/Beckwith–Wiedemann_syndrome

http://www.beckwith-wiedemannsyndrome.org/tp40/Default.asp?ID=28722

We feel much more positive and optimistic after an ultrasound this past Tuesday where he was keeping his mouth closed almost the whole time. The tongue will continue to grow so it is good that he is still able to control it some. It gives me hope that he may not need too much help when he is born and that maybe we will get to take him home sooner than later. My amniotic fluid continues to rise and has made me feel super uncomfortable. He said my water might just pop one of these days so ladies watch your shoes - you've been warned.

We have appointments at UW on Monday - one with a genetic counselor, another ultrasound, and then one with a perinatologist. We are also scheduled to tour L&D I believe. It has been so hard to be in limbo the last few weeks. And I know that even after he gets here it will still be a lot of unknowns - and we will just have to take it day by day. We are hoping to have more information and a plan Monday...hopefully even a potential birthday for this guy. We feel very comfortable with Dr. Robilio and his plan of care. And like he said nothing is for sure, but his job is to keep me and my baby safe so we will plan for the worst and hope for the best. We may be able to blame these findings on my diabetes and the fact that Sherman is just a big guy. So we wait, we pray, and we remain hopeful...