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 intestines. 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.

MrsWilson93 · October 2011

Don't feel guilty. This is not your fault. Your baby probably was not showing signs of this at your last US because they don't present that early, generally. He may have some difficulties growing up but you can rest assured that his prognosis is very good. Especially since you caught it early.

Good luck to you and your family. I hope that everything turns out Okay. We will be thinking of you. Try to keep us updated.

betheveh · October 2011

Thank you - I appreciate words of encouragement. Sounds like you know someone with BWS...and that is reassuring.

caffrin · October 2011

Yes! My sister had BW and my 3 year old nephew has it. I have been followed this pregnancy with ultrasounds to watch my LO as well. It really depends on the severity of the condition. My nephew is perfectly happy and you would never know anything was wrong with him unless you take a close look at him. If your LO does have it, just find an informed doctor. Most doctors I have seen have never even heard of BW so you sound like you are on the right track and the fact that they noticed something in an ultrasound is good because most DRs seem like they know nothing about this. My nephew has to go in every 6 months and have blood drawn and they just have to be extra cautious to watch for any kind of tumor growth because this can be a side effect. If you have any questions I can give you more informed answers after talking to my mom and sister. T&P's for you and your LO!

betheveh · October 2011

This is wonderfully reassuring to hear...I keep seeing the worst case scenerios online. I am very hopeful that he will have a mild case.

How was your nephew's tongue as a newborn. Do you know if he was able to breast and bottlefeed? Also any breathing problems?

TIA

caffrin · October 2011

My sisters was overgrown. My nephews was not. But my sister was born 32 years ago and they knew almost nothing about this condition. My sisters case was extremely severe and the doctors were not ready for it when she was born. She was overgrown in what seemed like every organ and her abdomen was HUGE. I'm sure if your little guy was as severe as hers, there would be more than just the enlarged tounge and kidneys. The prognosis for BW is much better for babies born with it now because obviously the advancement in medicine has been huge. My nephew breastfed just fine although I know that trouble eating can be a symptom. I think that as long as you do your research now your little guy will be well supported when he is born! Insist on having a doctor who understands the condition because I know how hard it was for my sister when no one knew anything about the condition yet would try to treat my nephew anyways! She flys to Seattle every 2 years to see a specialist on BW because she insists on being informed and having the best doctors for my nephew. Maybe this site would be helpful for you: https://www.beckwith-wiedemannsyndrome.org/tp40/default.asp?ID=28722

Oh and my nephew had no breathing problems either.

Oh also, my sister ended up being born premature and had more troubles because of that and then adding the BW on top of that was not good for her.

But like is said, it sounds so reassuring that your doctors saw this in an ultrasound because most that I have come across look at me cross eyed when I mention a family history of BW. Good doctors=healthier baby! I will continue to keep T&Ps coming your way and if you ever have anymore questions, feel free to ask!!!

betheveh · October 2011

That is good to hear. I am just soaking up all the info. I can right now.

I actually live in the Seattle area - do you know the name od the doctor she sees?

TimeRacer · October 2011

The NIH website has a pretty good general overview of the syndrome, and if you haven't seen it yet, here's the URL:

https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/

caffrin · October 2011

betheveh:
That is good to hear. I am just soaking up all the info. I can right now.
I actually live in the Seattle area - do you know the name od the doctor she sees?

I will ask her tomorrow and get back to you!!!

betheveh · October 2011

Thank you all so much - every bit of support and information is comforting right now.

caffrin · October 2011

Sorry it took so long to get this info!

The doctor is at Seattle Children's Hospital and her name is Dr. Becky Johnson. Her genetic counselor is Linda Ramseell and her phone number is 206-987-2663. I hope that helps!!!

betheveh · October 2011

Wonderful -thank you so very much!!!

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