At what age were you/your child diagnosed with... - BWS Support
It was obvious at birth that Amelia had BWS, but she was about 2 weeks old when the genetics confirmed it.
my 12 and 20 week scans were all normal, but i had a private 4d scan and that showed her tongue was protruding the long periods of time, if it wasnt for the sonographer going on a course a few weeks before where bws was mentioned, she probly wldnt have picked it up. this scan was money well spent.
My daughter was 34 weeks before I found out although all the signs were there for doctors and if I hadn't of persisted with them I still wouldn't of known but I wouldn't let it go and have an answer
My son was diagnosed before birth he had an exhomphalos large kidneys lots of fluid and a big tongue. I googled it before they diagnosed him so I was prepared. X
My daughter has just been diagnosed at 4 yrs and 8 months. Doctor kept dismissing my concerns. The day she was born, they handed her to me and the first thing i said was "whats wrong with her tongue?" I was told nothing, I asked another doc on the ward the same question, again i was dismissed. It was niggling me and the day we were realeased from hosp a midwife asked me if i had noticed anything strange about her tongue !! we were dismissed and i was told my baby had a possible tongue tie and this would sort itself out.
After 4 yrs of nagging my doc, he finally agreed to send her for blood tests and they have came back positive for BWS. To say myself and my partner are upset and confused is a massive understatement. My daughters condition hasnt been monitored or treated. I find out on monday (27th Jan) the extent of my daughters condition. Thank gooness this web page exists, as it has offered me some comfort from other parents and their childs journeys.
I'm so sorry you have had such a dreadful time getting a diagnosis. It is sometimes the way when there are no major physical abnormalities at birth, such as exomphalos, major blood sugar problems etc. I also questioned my son's large tongue at birth, as it was making feeding very difficult but was dismissed as a neurotic mother! I eventually diagnosed him myself and had it confirmed at 5 months...but I worked in medical research and it was easier for me than many families to get access to information and clinicians. If she hasn't had any abdominal defects or blood sugar problems or other major problems that would have been obvious, then the only treatment she possibly has missed out on is a tongue reduction operation. And she can still have that done if its necessary. Obviously she will have missed out on screening for the tumours that BWS children sometimes get. But your genetic diagnosis will hopefully tell you whether or not she needs this screening or not ie whether she has a risk of tumours or not. There are subsets within the BWS diagnosis with some groups being at increased risk of tumours and some not. If she is in the subgroup with increased risk then you obviously need to make sure she gets screened regularly (3 monthly). If you are concerned about her tongue I recommend you ask for a referral to the Great Ormond Street team, as they are now the national centre for macroglossia (large tongue) in BWS. Take a look at our support group's website bws-support.org.uk as there is lots of info there. And please come back to me with more questions. I have a 12 year old son with BWS who had tongue reduction surgery at GOSH and have been involved in running the support group for many years and set up the website to provide better info for families. Hope this helps and you have a good meeting on monday.
hi everyone. my little girl was diagnosed yesterday. i was suspecting it but everyone kept saying that im overreacting. i dont know much about BWS yet and im hoping that i can get some advises from u guys.i was reading about it on internet but its so much to take in. She has creases on one ear and large tongue. i wa told that it is a mild end of tBWS but it doesnt stop me from worrying. she is only 12 weeks old.
Hello, thank you for getting in touch. I suggest you look at our website bws-support.org.uk as this has lots of info. If she only has ear pits and a large tongue it does sound as if she is at the "mild" end of the spectrum. Tongue reduction, if required, is straight forward usually where there are no other problems. Take a look at the info and come back to me with your questions. It can be overwhelming initially to have this diagnosis but its not as scary as it first seems, particularly for those kids who have it mildly. My son has BWS mildly and had tongue surgery at GOSH at 20 months, no other major problems and is now 12 and doing really well (and looks gorgeous too!). Speak soon x
Songbird63, thank you so much for your support. I have finally calmed down. My daughter got her first scan and results are normal. Our consultant believes my daughter is at the mild end of the spectrum but has requested 3 monthly scans as precaution. She also believes tongue reduction will not be necessary. I showed her pictures of my daughters protruding tongue from birth and she believes it has improved with her ageing process. Looking back, my daughter did show obvious visible signs of this condition at birth i.e extreme rapid growth and large tongue, i suggested to my doctor and health visitors possible reasons and i was ignored. My anger is not with the condition but with the people who dismissed me and I feel let my child down. Awareness is definately the key to such issues and I can only be grateful sites like these offer support by people like yourself exist. Without a doubt it helped myself and family through a very scary and dark couple of weeks. I feel a lot more positive now about my childs condition and have already started to push it to the back of my mind (until the day before scans and blood tests of course) Thank you again.
You are welcome, so glad all was well with scans etc. If there is any doubt about your daughters tongue you can always ask for a referral to the team at GOSH as they will know whether surgery is needed or not.
Remember, don't live under a black cloud of worrying about scans etc...you loose the joy of having your wonderful daughter. Enjoy her and just deal with the scans as they come along. Take care and thanks for getting in touch.
Songbird63, I have requested an appointment with the speech therapist for my child and hopefully she will get an appointment prior to her starting school. I dont have any concerns with her speech as such, but feel she could do with some help with a certain letters of the alphabet. When i feel nervous about scans/bloods I will definately log on for your words of wisdom to put my feet back on the ground. Thank you again.
My son is 14 and just diagnosed 3 days ago after years of fighting.
So sorry to hear that you had to fight for so long. I hope you and your son are both getting the help and support you need now. Please feel free to post any questions here that you need help with. You may find our website helpful too. Don't struggle alone, there is lots of help and information available. Thinking of you.
Thank you. We are used to fighting where josh is concerned as nothing has been easy. Josh was diagnosed as having hemihypertrophy when he was born, he was a big baby compared to my other children. We saw genetics at 24hrs old and they said nothing, he saw a paediatrician on a regular basis as his left kidney was enlarged. He had his first operation at 7months old to remove a blockage and then at the age of 3 he had his kidney removed due to nephroblastomatosis . And even after all this they still said it was just hemihypertrophy. We've always been worried about his low weight since he was about 11 months old but was always pushed aside and told that he had always been low weight since after he was born so it was nothing two worry about. When he was 11/12yrs old he was diagnosed with ADHD after fighting for years to get him help as we knew something was wrong but it was put down to our parenting skills!! In 2012 at the age of 13 he had his growth plates drilled in his hemi knee to slow growth but over the past two years his health has deteriorated, he has lost weight, had a vitamin d deficiency, suffers from acid reflux, has just been diagnosed with a heart murmur, and his pain is off the scale to the point he is on codeine 4x a day. He also keeps
having blood test results that come back saying he has an infection somewhere but they can't find where. Genetics say that the bws only explains his difference in size but not his other health problems so I'm struggling to take everything in and get to the bottom of everything so any advice would be greatly welcomed. Also forgot that two years ago was the first time we had seen genetics since josh was 24hrs old.
What a dreadful time you have had, I'm so sad to hear all the problems Josh has had. It must be so hard for you all. I think the geneticist is probably right that many of the problems Josh has aren't BWS related. BWS children usually remain very large in terms of height and weight and I don't know of any link with reflux and low vit D or ADHD. But there does seem to be some association with kidney problems ( besides the incidence of Wilms tumour in younger children), such as medullary sponge kidney etc. And there is some a association with cardiac problems. And as you know hemihypertrophy is linked strongly with BWS.
However, I would keep pushing for more investigations into the other problems. It can be easy to assume when your child has a diagnostic label that it explains everything. But BWS children still get things that other children get too, whether they be rare or common. My own son has 2 other syndromes as well as BWS, one which is rare and one which is relatively common. I wish you all the best with your fight for better information and management. Please keep in touch if we can help in any way.
Thank you so much for the information. I also questioned genetics if it could be another syndrome like rss and he said it wasn't possible to have more than one syndrome.
Well my son has 3!! Perhaps ask for a referral to another geneticist. I assume that's he had a full genetics screen?
Not that I'm aware of as we got refused funding on the nhs to be tested for bws but genetics really wanted to do it so they sent it off to be tested on a research basis and it's taken two years to get results back.
I've not heard of anyone not being allowed to have the test on the NHS before. Now that we actually have a definitive genetics test for BWS it's crazy that you weren't allowed it, considering Josh's hemihypertrophy. I don't know who made that decision but if it's your paediatrician I would seriously question his judgement and whether he is the appropriate person to be managing Josh's medical needs at this time?
I do hope you can get some better treatment/management in place for Josh soon so that he is not in so much pain and discomfort.
His care has been mostly managed by orthopaedics, he only started seeing a paediatrician about two years ago after we pushed about his weight. His ortho has always said it was just hemi and nothing else until just before his operation in 2012 and that's when we got sent to genetics, but despite josh already having the kidney tumours when he was younger they said because he was past the tumour risk there was no need to test as it wouldn't change anything.
In fact, you can have BWS without hemi. Actually most of the people with bws don't have hemi. I was on a bws fb group before and i leave because no one was having hemi. Most of them has macroglossia (big thong). This is their principal concern. Having bws is rare, having hemi AND bws is more rare. And you have 15% "chances" to devellop a cancer/tumor but child with hemi and bws has a higher % of risk. But the follow up is the exact same. Can you tell me if this information is correct.
Hemi can certainly be part of BWS (BWS does have a large spectrum of different issues and severities) but I believe it can happen in isolation too. And yes the majority of BWS children do not have hemi, and macroglossia is often the greatest concern. if a child does have hemi then research has shown them to be at a higher risk of tumours. However the genetics test now available for diagnosing BWS also indicates which genetic change has caused the BWS and as such whether the child is at increased risk of tumours or not....there are various subgroups. Tumour monitoring usually stops at around age 8 or 9 when the risk is deemed to be no higher than normal. However I would expect any child that has already had any tumours to be followed up for many years post treatment...whether they have BWS or not. As I said previously I think you need to push for more investigations/ a different paediatrician to find out why Josh is loosing so much weight and in so much pain etc. Both issues need addressing urgently and if you are not getting answers or help you should ask for a second opinion, preferably from a specialist children's hospital who are more used to seeing rare diseases. Hope you get some answers soon, best wishes.
Thank you so much for your help and advice I will definitely push for more investigations. We have been under the care of Sheffield children's hospital as that is our local hospital and I know people from all over that are under consultants there for hemi and rss too. I just think they haven't been very good in the care of josh.
You are very welcome, I hope things improve for you all soon. X
My little girl was diagnosed today at 9 weeks old, she has one side of her body larger than the other & an enlarged tongue/ear pits. Was so much information to take in even though I had read up on it first, would love to hear about some childrens outcomes with this syndrome x
My son is now nearly 14 and is doing well. He had tongue reduction surgery at GOSH at 20 months. He is very tall and quite heavy but very handsome! He didn't have hemi or any tumours but has had a few problems with very lax abdominals, gastro problems and some insulin issues. There is a wide range within BWS, from children who are only mildly affected to those at the more severe end. If you read some of the posts/blogs on this site it will give you more idea. Also take a look at our website. If you have any specific queries please ask. Try not to worry too much, it seems a lot to take in at first but most children do well and have a normal life. Dont loose site of the fact that you have a lovely daughter and enjoy having fun together. Worrying can rob you of precious time in the early months. Take care.
Thank you so much, she is a beautiful baby and shes the same little girl she was yesterday! Just an overwhelming experience for me yesterday even though it was expected! Its assuring to hear stories of their little ones and how well they are doing! Such a rare syndrome, even my doctor had to read up on it! Will take each day as it comes in a positive manner 
x
I was told at 20 weeks that my baby would be born with an omphalocele. After doing research I found out a lot of babies with them had BWS. I had weekly sonograms and in every one he was facing the camera and his tongue was sticking out. I kept asking my doctors if he had BWS and they said not to worry myself. I could tell the minute he was born he had BWS. It was confirmed by our geneticist while we were recovering in the hospital.
Moderation team