We have a suspected diagnosis of BWS, and are awaiting full genetic tests to come back. Is there anything else we should be aware of?

Our little girl is 24 days old, had an exompholas (diagnosed @ 20 weeks in utero) macrosomia - 9lb 2ozs @ birth, hypoglycaemic episodes at birth and after surgery, ear pits and creases on the right ear, stork marks on left eyelid and above nose, and enlarged abdominal circumference. She also had a severe tongue tie which was snipped when she was 4 days old, and although tongue overall is a little on the large side, there is no apparent macroglossia (according to her consultant). She also has a heart defect which, hopefully, should improve as she grows.

We also have a 6 year old son - text book pregnancy, birth and no further complications. Any pointers/ things to ask would be invaluable. I had to fight to get her microarray and karyotype tests done and sent off as the hospital initially was treating her for an isolated exomphalos, however, I pointed out BWS markers to the team looking after her in NICU, and after a heated followup discussion - agreed to the testing. Despite having done as much research as I can, I, for once, feel a little out of my depth. Any help would be greatly appreciated.

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5 Replies

  • Hello! I have an 8 month old daughter with BWS and her identical twin may have a genetic copy. If you are Facebook, find one of the support groups (I am a member of two); that is the best information you will find!!!!! I think one is Beckwith Wiedemann Syndrome and the other is Beckwith Wiedemann Support Group. Your symptoms sound classic BWS!!! She will need abdominal ultrasounds every 3 months and AFP levels checked via blood draw every 6 weeks to 3 months (genetists vary); My daughter had her first ultrasound in NICU. You will find great comfort talking with people that have the exact symptoms and hearing their stories.

  • Many thanks 3kidsinfi. I have already joined the support groups on Facebook. I've learned a lot already even though we are still in the very beginnings of our journey, followups etc.

  • Hi,

    Congratulations on the birth of your daughter! We have a daughter who is almost 6, and was diagnosed with BWS at birth. We were in hospital for 13 long weeks at birth due to complications in stabilising her blood sugars. She ended up having surgery on her pancreas. I know how tough things are right now, but we now have a happy healthy girl who is doing fantastically well at school. Keep fighting for what you feel is right - there is something to be said for a mothers instinct! It may not feel like ut now, but most diagnosed cases do very well once the first year or two have past!

    Where are you based?

    Good luck


  • Hi daisyduck, I'm in Norwich, Norfolk. Georgia was in NICU for 7 days due to her being born with an exomphalos. She only had 3 hypoglycaemic episodes, and nothing since. We are still awaiting the diagnosis as her consultant was not happy to diagnose it clinically. She's astounded us in everyway possible, and apart from total sleep deprivation, Georgia is an absolute joy. Am so proud to be her mum, no matter what the next steps are!!

    Many thanks.


  • Congrats to you guys. Yep, main thing at the moment is the 6wkly AFP bloods & 3mthly u/sounds (full abdo & not just renal). You may have to keep harassing for the first "x" amount of times until appointments get regular. oh, and try for some sleep when you can.

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