BWS CONFIRMED

Hi all had my sons genetic tests back he has been confirmed with having BWS. Genetics dr said a lot to me and was hard to take in to be honest. She mentioned he had an extra cell line and something about mosiac?? She seems to think he has the one where will need the screening till he is 7 but me and his dad need to provide samples and need a buckle sample?? Dont know if got the name right from Ellis. Dont know how to feel at the min...but i think i knew deep down he had it x

6 Replies

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  • Buckle just means the sample is taken from the inside of your cheek so don't worry about that.

    If you are in the UK, Great Ormond Street Hospital is a centre of excellence and they can give information to local Hospitals,

    There is also a wealth of knowlege on this site.

    Your son is still your beautiful son and you will become the expert on how to manage anything that comes up. Enjoy him as you would any baby.

    Try not to worry, BWS children are generally the lucky ones as most of the symptoms seem to disappear before they reach their teens.

    Good luck

  • Hi...bws is hard getting the diagnose as I'm sure everything is...ive 2 boys both with bws... first year there lives was very hard work but you go through it all..mine were tube fed till 9 months and wee sats monitors which kept me sane at times....but now my eldest boy is turning 13 next month and my youngest is 8....both great kids no behaviour problems and in mainstream schools...had blood tests every 3 months till were 3 and scans till 8...and they seem to grow into tongues ..they had hernias though and my youngest was born with omphacele..so no belly button but he doesn't want one...just so you know you do get through this...hard as I know it is now but it will get easier...

  • Hi thanks for replying. My son wasnt born with the large tongue we would not have known anything was wrong was it not for me noticing his right arm felt swollen. He ended up in hospital thinking he had an infection in his bone then they said thought he had hemihypertrophy and was referred to genetic dr. He has an umbilical hernia and has the stork bites on his eyelids and forehead he was born with a massive cord and he has hemi all down his right side. Genetic dr confirmed was hemi then had to do the test for bws. She rang me other day to say me and his dad needed to give samples too. I keep questioning what i heard her say but im positive she said he did have it mentioned mosaic and said needed to find out why he had got it wheather was genetical or sporadic . Im presuming thats why needs samples of me and his dad and also he having a buccal test. She had rang his consultant and said to start the screening process but he had already done that anyway when he thought he had hemi. Suppose when i get copy of the report i will understand better.

  • It's very hard to get head all around everything and Drs talk in a way we never understand....we did all genetic testing and turns out I'm a carrier even with no signs of bws in me...also I was told at time that my son's are missing prints of my DNA..not sure what words they used but that's what it meant...all very strange..then I had other son 4 years later and he's bws as well..scary times but you get through it..ive 2 very loving boys...

  • Yes my kids had red marks on eyelids and back head..and creases in ears..but all fades away over years...

  • We have recently updated our website and included eight stories of BWS children and their families. Hope you find these useful. The website can be found at bwssupport.com and the stories are thanks to the help from Great Ormond Street Hospital. I will upload our son's story in the next few days and you will see that it is optimistic. All the best to you and your son.

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