Baby with BWS

[DanaSue]

Hi my baby has a mild case of BWS. She has ear pits,large birth weight and large tongue! But our genetic testing came back positive for BWS..... Does this mean it is not a "mild" case like they first thought?

[Songbird63 Administrator BWS Support]

Thanks for getting in touch. Babies with BWS are sometimes described as having mild BWS if they don't have examphalous or other major problems at birth. BWS covers a wide spectrum, with some children being more severely effected than others. However, the genetic testing will have revealed which subgroup of BWS your baby is in. This will also determine whether she has an increased risk of tumours and will need screening. Your geneticist should have explained all of this to you. If you do know which genetic subgroup she is in then we can give you more details. We will shortly be publishing on our website a report from GOSH explaining the genetics of BWS in more detail.

If you have any other questions or concerns please ask. Try not to worry too much otherwise you will miss out on all the joy of your daughter. I have a 14 year old son with BWS...described as mild when he was diagnosed...and he is doing really well. Wishing you all the best.

[DanaSue in reply to Songbird63]

Thank you Songbird! The genetisis did not explained anything to us yet.i let them copy of medical file and paperwork to do research on BWS .... I was the one asking for the referral from our doc to see a genetisis to get the testing and have someone look at her who is familiar with BWS. We have to drive a few hours to go to Childrens Hospital in Phoenix in AZ ( USA). I am now trying to figure out the different categories of BWS since we got a positive on the blood test. They are still having us do ultrasounds and blood work and EKG for the next 10 years every 3 months.

Background info- I was told I had infertility issues and could never have a baby and we were looking into adoption. Then had surgery and a month later and surprise ....pregnant with her and doc watched me like a hawk lol. Anyway, husband and I are trying to get blood test on us now to see if we are a carrier of BWS or if it was spontaneous.

[marlena01]

my son is two and was born with a mild case. He has the marking's and larger tongue, along with a slight right side hemi. He has grown into all these things and is barely noticeable. He sees his genetics doc and goes for regular ultra sounds along with blood work every 3 months until he is age 8 or 9.... hope this helps....

[DanaSue]

Yes this helps....thank you! Are you based in the US or UK? I am finding the U.S. has no info and BWS is rare here. That is part of my frustration I think.