Anyone heard of Beckwith-Wiedemann Syndrome?

betheveh · October 2011

After being in the hospital overnight for a failed NST and Biophysical Profile Ultrasound - they found some findings on our ultrasound that are new and worrisome. Baby continues to grow at an alarming rate - estimated at 7/11 at this point, they also found enlarged kidneys, some fluid around his belly and testiclea. I have a high level of amniotic fluid - which I was told was from my GD. However, the doctor was very persistant about getting a pic of his face after seeing baby stick his tongue in and out...we now know he was looking for - and found - an enlarged tongue.All these things together lead us to a probable diagnosis of Beckwith-Wiedemann syndrome. It is an overgrowth disorder/chromosome disorder - and apparently is more common in couples who did "reproductive therapy." This statement leavdes me feeling guilty - did we press too hard?We were switched to the high risk Doctor and we're told we will probably need to deliver via csection at the university hospital over an hour away. Apparently his airway is going to be a huge issue at birth.We are shell shocked as everything was fine on 3d ultrasound just 2 weeks ago. We are scared, but also grateful that this just happened to be discovered before his birth, so he can be born in the right place with the right specialists. If anyone has any experience it would be greatly appreciated.

etoyama · October 2011

No experience here but I'm sorry you've received this diagnosis. Please don't feel guilty - this is in now way your fault! I'll be keeping your LO in my T&Ps!

ELF4321 · October 2011

Sorry, no experience with this, but I just wanted to say I'm really sorry you have to deal with this. ((Hugs))

armywife76 · October 2011

DS was tested for this as an optional part of the amnio as he had a small omphalocele, which is closely associated with BWS. His came back negative, but the test is only 60% conclusive. We had a very stressful high-risk pregnancy, but everything turned out ok. I'd recommend not googling (wish someone had told me this!)

A genetic counselor we saw made me feel much better about the IF connection and that most cases of BWS have no known cause. There are a couple moms on my omphalocele board whose children had BWS, but you would NEVER in a million years know it. Most were large babies, but their size normalized over a few years, some had brief issues with glucose control during the immediate perinatal period and most babies with BWS have to get fairly frequent u/s's to make sure they are not developing a rare type of tumor.

Page me on SAIF if you want more info. as I researched endlessly as a way to cope with stress during my pregnancy. I can also give you a link to the board I referred to. I wish you the best and hope all is well with your sweet baby!

km0426 · October 2011

I'm so sorry about this diagnosis. I have no experience but wanted to say keeping you and your little one in my prayers and hoping for everything to turn out ok. (((hugs)))

blue+skies · October 2011

I am so sorry! I don't have any advice, but you and your family will be in my thoughts!

jillychris · October 2011

I have no experience, but just wanted to send my T&P's your way. And, do not feel guilty at all. You will be an amazing Mommy to your little one and that is all that matters!!!

betheveh · October 2011

Thank you everyone. As always this board gives such great support, and I truly appreciate it.

STL34 · October 2011

I have no experience with this Dx. But, keeping you and your LO in my T&Ps.

Jessiree · October 2011

Like some of the other ladies, I don't have any knowledge or experience with this, but I wanted to say please don't feel guilty about the journey to get here. You all are in my thoughts. ((hugs))

anydad · November 2011

As you may have already done, I recommend looking at the Beckwith-Wiedemann Children's Foundation website at https://www.beckwith-wiedemannsyndrome.org and requesting the free DVD. The Foundation should prove to be very helpful for you.

My first born has BWS and was born in 2006. He is a very active happy bright handsome boy and loves his siblings. Though his ompahlocele required that his birth be induced and that he be born in an OR, no c-section was required. He had surgery two days after birth to seal up his abdomen; in his case, gravity mostly took care of the omphalocele after brith. He spent some time in the NICU. Among his surgeries was tongue reduction surgery at about 4 1/2 months. If this is necessary in your child's case, I highly recommend Dr. Jeffrey L. Marsh for this; he is referenced in the above-mentioned site.

Though I cannot speak to your experiences involving reproductive therapy (I saw your posting via a saved Google alert for BWS related terms), I can speak of my own experience. My wife and I had many people praying for us during the pregnancy and were and continue to be greatly blessed. Because we did not do more extensive testing, we only knew that BWS was among the possibilities of conditions, and it was the best of the likely possibilities. Interestingly and significant for my wife and I, our son's tongue reduction surgery happened to occur on the feast day of St. John Chrysostom; Chrysostom in Greek means "Golden Tongue."

Our son started off with the AFP blood draws every six weeks with ultrasounds every twelve weeks. Now we just have the ultrasounds. Thankfully nothing serious has ever been found. BWS, besides the fact that those who have it carry it, it is mostly something that is outgrown. There are adults who don't even know they have it.

The most important things you can do regarding your child are to pray for him and to be an advocate for him when dealing with health professionals.

I hope this input helps a bit. Hang in there.

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