Hi new here from England!

[Sharron16]

Hi i'm Sharron My son is 7 months old and we are currently waiting genetic blood tests back to see if he has BWS. He has already been diagnosed with Hemihypertrophy and the genetics dr seems to think he may have this. i noticed that the right side of his body was bigger than his left when he was about 4 weeks old. He has it down the whole right side including face but its very slight, the main places are his arm leg and tummy. He also has a hernia and a heart murmur. I dont really know much about it and here in England I have not heard of anybody else with it although im sure there is. Just a very anxious wait now 😔 X

[Anna-Lisa]

Hi Sharron, my daughter was diagnosed at 8 weeks old. She has Macroglossia, slight hemihypertrophy (which also includes some of her organs) and she is big for her age. She underwent tongue reduction surgery last year at GOSH and she is doing great. There is a very good support group for BWS here in England-the website has lots of information and was a great help to us - bwssupport.com

[Sharron16 in reply to Anna-Lisa]

Hi Anna-Lisa thanks for replying. My son doesnt have the Macroglossia although the right side of his tongue is slightly bigger than the left. He is big for his age he only 7 months and already in 12 month clothes and his kidney on right side is bigger than left. So glad found this forum and people that can relate to what we are going through.

Do you have other children? None of my others have it just Ellis x

[Joan1976 in reply to Sharron16]

My children were both enlarge kidneys and tongues..and left side youngest body is larger but all proportion out..my children and talk for ages due to bws....now only thing both so clumsy and not great at sports..but very good at school work and behaviour excellent..

[Mistiwhitehead in reply to Anna-Lisa]

There's a BWS support group on fb if you're interested. My daughter was recently diagnosed with BWS.

[BabyJMummy]

Hi Sharron, we're in England - in Notts. My son has bws with full hemihypertrophy (head to toes including organs). He was born with his bowel outside his body & a few other minor signs. There are a few groups on Facebook for bws and hemi - both in U.K. and worldwide if you are interested. Hopefully you'll get quite a few replies on here too. I'd never heard of any of it until my son was born 5 years ago. Ali xx

[Sharron16 in reply to BabyJMummy]

Hi Ali. Yeah I had never heard of it before either. Ellis has it from head to toe also although its more noticeable on his arm and leg. If you look at his arms and hands they look like they belong to too different babies! He has a hernia by his belly button and has stork bites on his eyelids and forehead.

Sorry to ask but does the hemihypertrophy effect your son in anyway i.e walking? Have seen on some sights can effect walking if one leg longer than the other. Ellis is only 7 months so I have no idea how will effect him if at all x

[daisyduck BWS Support in reply to BabyJMummy]

We are in the UK too? Based in Warwickshire do not far from you. I would recommend the fb group if you haven't found it already.

facebook.com/groups/beckwit...

[BabyJMummy]

Ps - he's had a few ops & is due another in a month - but he lives a normal life - is very happy (everyone comments on it) and doesn't let anything slow him down xx

[Sharron16 in reply to BabyJMummy]

Sorry didnt see this I just asked you if effects him in anyway. What where the ops for if you dont mind me asking. I dont live far from you either I live in Warwickshire x

[BabyJMummy in reply to Sharron16]

Hi - he has to have his shoe for his little leg adapted - hospital adds a block onto the bottom (sounds worse than it is). He's had 3 hypospadias ops (willy ops - the hole is in the wrong place) and 1 bowel op at birth - he's about to have plates put in his big knee to temporarily stop the growth so that his little leg can catch up - that's in a month. His leg length difference is just under 3cm but he is small for his age (yes I know bws is an overgrowth syndrome!!!) xx

[SarahMorgan]

Hi. We're in England too! I have 4 boys and my youngest (19 months) has BWS. There is a fantastic closed facebook group with over 3,500 members who either have or have kids with BWS. There's quite a few members in England too. It is well worth joining this group as there are some very knowledgeable members on there. Where abouts in England are you?

[Sharron16 in reply to SarahMorgan]

Hi Sarah I live in Warwickshire. i have 3 boys and 2 girls and none of my other children have it. X

[SarahMorgan in reply to Sharron16]

Hi Sharron.

We're in Bristol. It's all quite daunting at first but it really does get easier! The first year after diagnosis will be the busiest with various appointments etc but it does quieten down. The first thing you need is the referral to a geneticist for testing. Bear in mind though that this may come back negative even though he may still have it. This is because not all cells may be affected. You may be given just a clinical diagnosis based on his symptoms. There are some great websites which list the possible symptoms. The following website is very useful:

ncbi.nlm.nih.gov/books/NBK1...

The most important thing is to follow the screening protocol which includes blood tests for afp which is used to detect liver tumours (hepatoblastoma) and abdominal ultrasounds to check all organs and in particular the kidneys for tumours (Wilms tumour) as well as liver again.

There are some inconsistencies here in the UK with regards to screenings, some doctors don't think it necessary but it is important you fight for these screenings, both tests should be done at least every 3 months (some recommend afp testing every 6 weeks) Although these tumours are relatively rare, they are aggressive so it's important to have regular screenings. The type of BWS is also important as some forms carry a greater risk of tumours.

I think you may find the facebook group has a lot more information for you, If you would like to give me your full name, I can add you. There will probably be someone there who is in your area who can advise on suitable doctors familiar with BWS

Sarah x

[Sharron16 in reply to SarahMorgan]

He has had his genetic bloods done we are just waiting for the results. When i noticed one arm was bigger than the other he ended up in hospital for the night as they thought he had an infection in the bone in his arm but then when that came back clear they said they thought he had hemihypertrophy. Themselves didnt know much about the condition but from stuff the consultant found online from GOSH he started the scans straight away so he has had two so far and one set of bloods done with his first scan this was when he was around 3 months old. He referred him to the genetics doctor for diagnosis and a plan for the future.

The genetics dr confirmed he had hemihypertrophy down all his right side and said because of this and some other things she was testing him for BWS. She said they is a few types of BWS and only one of them is where you need the scans every 3 months?

But we are just awaiting them results now shud get them by the end of this month.

Sharron x

[SarahMorgan in reply to Sharron16]

Yes, this is where the controversy comes in. The fact he has hemi alone means he should be following the screening protocol anyway regardless of whether he also has BWS. Hemi also carries an increased risk of tumours. My son has the type of BWS that is considered lower risk, he also has hemi. and our original doctor wouldn't screen. We found a doctor who was familiar with both and supported the screening protocol. It's a personal choice, but for us, any increased risk warranted us to want screening. We know of a couple of kids who have the "low risk" form of BWS who developed hepatoblastoma so we were very keen to follow the screening. Good luck with everything x

[Sharron16 in reply to SarahMorgan]

Yes I have just said to my partner even if it comes back that he hasnt got it, i still want the scans. And yes your right because the information we was given about the hemi says should have the scans every 3 months until there around 7 years old. X

[Mistiwhitehead in reply to SarahMorgan]

Hi! I joined that group. My daughter was recently diagnosed with BWS.

[Marie-2004]

Hi Sharon my son has BWS he's now 1 yr 5 months..if your son is confirmed to have BWS the team in GReat Ormonde Street hospital are fantastic. We travelled to them for a tongue reduction surgery from Ireland & couldn't say enough good things about them. They are fantastic if you go one their website very good information there also. There are good supports out there so if you start googling you will find various info. The main thing is to start the blood tests every 6 weeks and abdominal scans every 3 months if you son is confirmed to have BWS.

I hope you get confirmation one way or another quickly & if required start the monitoring asap. It's a really stressful time for ye.

Marie

[Sharron16 in reply to Marie-2004]

Hi Marie

I live in The midlands and he is currently under UHCW. His consultant started the scans straight away as a precaution he has had two scans so far. We are just waiting for genetic bloods to come back to say wheather he has BWS he has been diagnosed with Hemihypertrophy. He has a few signs like the over sized one side of his body, hernia, stork bites.

I spoke to hospital yesterday and they are chasing his bloods so hopefully hear soon.

Sharron x

[BabyJMummy]

Just to let you known- bloods may not be conclusive - we had several lots of tests before we requested a skin biopsy (whilst doing another op under general anaesthetic). We finally got the official diagnosis when j was 2 xx

[missnikkix]

Hi Sharon my 7 year old daughter has BWS..She was diagnosed at 4weeks,even though we knew at birth.She had big tongue,hemi,hernia,born 4weeks early and big birth weight.Regardless of diagnosis you need to push for scans,my daughter had a kidney tumour but luckily because of scans it was caught early.She had chemo and is doing great,its been nearly 2 years since treatment.Not saying this to scare you,its just better that the scans get done.We are in West Mids too,get in touch if you have any questions x

[Sharron16 in reply to missnikkix]

Hi the genetics dr rang today And said needs some blood of me and his dad and some cells from out of Ellis's mouth as the bloods where done and had came back and that it was like a mosiac it was present in some but not all. Very confused. She did say he did have the condition they just need these extra tests to find out why he has it or it could just be sporadic. She has wrote to his consumtant to start screenings of scans every 3 months and AFP every 6 weeks. He has already been having the scans but hasnt had an afp test since last year. She scared me a bit tho as she said his last afp's came back elevated!! X

[Mistiwhitehead]

There is a BWS support group on fb. My daughter was recently diagnosed with BWS.