Special Needs

Anyone's LO with Beckwith-Wiedemann Syndrome?

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 testicles. 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. 

 

TTC #1 since 6/08, MFI dx'd 3/09 Varicocelectomy 6/09, Hydrocelectomy 10/09 IVF with ICSI in Jan/Feb 2010 ER 2/7, ET 2/12 - transferred 2 blasts 5 snowbabies Beta #1 = 22 #2 = 19. Chemical Pregnancy :( FET May 2010 ET 5/30 - transferred 3 embies = BFN Fall/10 Went Gluten free + New RE and Clinic IUI #1 + Clomid 50 mg (1 follie) on 1/18 IUI #2 + Clomid 100 mg (1 follie) on 2/15 IUI# 3 + Femara 7.5 mg (1 follie) on 3/14 = BFP!!!! Beta #1 = 172 (15dpiui) Beta #2 =683!!! Ultrasound at 7 wks: 1 perfect beating heart. Baby Birthday Ticker Ticker

Re: Anyone's LO with Beckwith-Wiedemann Syndrome?

  • I just wanted to extend my support to you.  We were expecting to deliver a completely average, typical daughter.  All sonograms were normal and everything.  At birth, she had severe lyphedema (swelling) in her feet and one hand.  This led to choromosonal testing and our daughter was diagnosed with Turner Syndrome at 5 days old.  The day we were discharged from the hospital we went straight to a geneticist who happened to be in town for the day and by 2 weeks old she had already had 3 tests and been to 2 specialists.  It was overwhelming and I was so sad. 

    I posted on this board and found so many moms that offered me support.  It made me feel so much better and not near as lost.  If you need anything:  to talk, vent, cry, be mad or anything, please feel free to PM me.  I totally get all of the emotions that go along with something like this...even the ones you may not feel so proud to be feeling right now.

    GL and love on that baby when he's here!  Time goes so fast.

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  • Thank you so much for such comforting words - it sounds like you know exactly how I am feeling. I am struggling as is my husband and it is wonderful to feel some support from someone who really knows what it is like.
    TTC #1 since 6/08, MFI dx'd 3/09 Varicocelectomy 6/09, Hydrocelectomy 10/09 IVF with ICSI in Jan/Feb 2010 ER 2/7, ET 2/12 - transferred 2 blasts 5 snowbabies Beta #1 = 22 #2 = 19. Chemical Pregnancy :( FET May 2010 ET 5/30 - transferred 3 embies = BFN Fall/10 Went Gluten free + New RE and Clinic IUI #1 + Clomid 50 mg (1 follie) on 1/18 IUI #2 + Clomid 100 mg (1 follie) on 2/15 IUI# 3 + Femara 7.5 mg (1 follie) on 3/14 = BFP!!!! Beta #1 = 172 (15dpiui) Beta #2 =683!!! Ultrasound at 7 wks: 1 perfect beating heart. Baby Birthday Ticker Ticker
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  • We are not dealing with this diagnosis but other chromosomal micro-deletions.

    DO NOT FEEL ONE OUNCE OF GUILT ABOUT THIS AND ART.

    Chances are you will never know what may have caused this issue. It could have been a bad egg, bad sperm or just bad luck. This is what I keep telling myself, and it's working BTW!

    Neither my DH or myself have issues with our chromosome #1 so we willl never know why we were blessed with Nate. We were just about to do ART when we got a Hail Mary bfp. He choose us to be his parents. He knew we were up to the challege and that we would have been bored silly with a typical child.

    I am assuming they cannot do an amnio to try and confirm the genetics at this point since you are so far along, but I would try and put your in-depth research and worries on hold until you really know what your a dealing with. They can diagnose a lot of stuff prenatally, but they can also misdiagnose a lot of stuff prenatally.

    It is good you are going to a hospital with a level-1 NICU. Know that NICU is gonna suck donkey balls and be prepared for being totally pissed at all the mommies in the post-partem floor being able to room-in with their babies. Nate's diagnosis was a total shock to us and he was in NICU for 18 days for poor feeding skills. I am still pissed about the unfairness of my birth experience. I had watched all those "Baby Story" and "Deliver Me" programs for nothing!

    Hugs and let us know how he does. I don't know if there are any mommies on here with B-W. I know of one mommy who child is being tested for this(I think) but she is not a frequent poster on The Bump and her child has just the overgrowth part and not the other characteristics listed in the diagnosis criteria. I bet there is a B-W organization on the web or you can also look at chromsome disorder websites for more information once you know if there is a chromosomal component. Good Luck and welcome to the board nobody ever wanted to join!

    WAY 2 Cool 4 School


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  • I have no experience with this but also want to just lend support and say sorry to you all. Do not feel guilty. What I am about to say may sound dumb, but I gave birth to twins and went through every single possible test while pregnant, and was given a few reasons of why some of my blood counts were off: down syndrome, dwarfism, twin to twin tranfusion, heart defect, or "just nothing"... I was lucky and delivered two healthy boys but up until the moment they were born, my husband and i lived in fear. I cried every day and night and had to talk to a professional, so although i was lucky, i do sincerely know how you are feeling. SO hang in there and you will find a lot of support here :)
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  • I just wanted to offer support to you.  We are dealing with other issues, but we used fertility drugs to conceive Peyton.  When we learn about something new or I'm having a bad day, it often leads down "guilt road."

    I love her to death, but from day 1 of my pregnancy, literally, something was wrong. She managed to make it through everything, but the fact is that deep down I feel like maybe I wasn't supposed to be able to get pregnant, and this is why.  My body knew I sucked at making & baking babies.

    Sigh.

    I'm still working on it.  

    But, if you ever need to talk, you can find me on my blog.

    I'm glad you will be in a good hospital with specialists.  My advice to you is, if something doesn't seem quite right, NEVER be afraid to get a 2nd opinion.   

    DD1(4):VSD & PFO (Closed!), Prenatal stroke, Mild CP, Delayed pyloric opening/reflux, Brachycephaly & Plagiocephaly, Sacral lipoma, Tethered spinal cord, Compound heterozygous MTHFR, Neurogenic bladder, Urinary retention & dyssynergia, incomplete emptying, enlarged Bladder with Poor Muscle Tone, EDS-Type 3. Mito-Disorder has been mentioned

    DD2(2.5): Late term premie due to PTL, low fluid & IUGR, Reflux, delayed visual maturation, compound heteroygous MTHFR, PFAPA, Bilateral kidney reflux, Transient hypogammaglobulinemia, EDS-Type 3


  • Thank you so much ladies - you actually seem to know what to say. I appreciate it so very much right now.
    TTC #1 since 6/08, MFI dx'd 3/09 Varicocelectomy 6/09, Hydrocelectomy 10/09 IVF with ICSI in Jan/Feb 2010 ER 2/7, ET 2/12 - transferred 2 blasts 5 snowbabies Beta #1 = 22 #2 = 19. Chemical Pregnancy :( FET May 2010 ET 5/30 - transferred 3 embies = BFN Fall/10 Went Gluten free + New RE and Clinic IUI #1 + Clomid 50 mg (1 follie) on 1/18 IUI #2 + Clomid 100 mg (1 follie) on 2/15 IUI# 3 + Femara 7.5 mg (1 follie) on 3/14 = BFP!!!! Beta #1 = 172 (15dpiui) Beta #2 =683!!! Ultrasound at 7 wks: 1 perfect beating heart. Baby Birthday Ticker Ticker
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  • We did IVF to conceive our twins.  One of the boys is autistic and our other boys has a special need as well.  We just don't know what it is yet.  I wouldn't change anything about what we did.  I'd still go through it if it meant having our boys.  Our youngest son has a genetic syndrome; he was our bonus baby.  I can't imagine him any other way but the way he is.  I've learned to stop looking at the information provided by the genetics paperwork and let him create his own path.  If it were up to the paperwork he's STILL not be talking and he'd have just starting walking.  He's been talking for around a year and walking since he was 15 months old.
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