Is it BWS?

[Jofus]

Hi, I've just joined the group looking for answers as my son doesn't have a diagnosis but he has so many characteristics of BWS.

Last Monday I found my son (who is 10 months old) unconscious in his cot. My husband had to give him 2 rescue breaths and the paramedics took him to hospital. The first thing the paediatrician mentioned was his weight as he is off the centile chart. He was born 9lbs and rapidly gained weight even though I fed him like any other baby. His weight has always been a concert with doctors and the health visitor. My son was kept on for a sleep study as they thought he might have sleep apnea but his test came back ok and we were sent home. A few days later we received his discharge letter which stated a few things that weren't mentioned to us at the hospital.. He is obese, he has epicanthic folds and almond shaped eyes, he has a large tongue.

I was concerned at turned to google and came across BWS and found that my son has a lot of the symptoms.. Excess water during pregnancy, umbilical hernea, ear folds, gets redness runs his eyes and had a low blood sugar level when they tested him in the hospital.. As well as the characteristics pointed out on his discharge letter.

I am now worried sick and have asked for my son to be tested for BWS and his paediatrician has thankfully agreed and referred him to the genetics team.

I have found this site really helpful for information and was wondering if anyone has any other advice for me or am I doing all I can? Or am I panicking over nothing? X

[PaulaUK]

Please don't worry too much if that's possible. My son has hemi hypertrophy and BWS but it does.not stop him doing anything. He is now 2 and a half and is so clever. They told.me he may not walk until around 15 months old due to his leg length discrepancy but he walked at 9.months lol. He has scans every 3 months and these will continue until he is 8. This is cancer screening as there is a risk from both his conditions of tumors. He also has upd bws which basically means he has a duplication of his father's chromosome 11 and none of mine. He has an umbilical hernia and diastasis recti. It can be worrying but we try to just get on with things as much as possible. His left leg is currently 4 cm longer and is wider than his right leg. He will have operations on his right leg to lengthen it and this will require his right leg to be broken around 3 or 4 times in his childhood to adulthood. Hope all goes well for you and your little one x

[Amh22]

Hi, yes your son has many signs. The most important thing is to follow the protocol. Please start the protocol asap. Before the genetic appointment. The protocol recomended by Dr. BECKWITH and others genetics is AFP every 6 weeks intil 4 years and abdominal ultrasound every 3 months until 8 years. Please look for Beckwith Wiedemann Facebook Group. It is a closed group and helps a lot. It gives you information and support. Good luck.

[Amh22]

Please read this article. ncbi.nlm.nih.gov/books/NBK1...

[Salenalee in reply to Amh22]

Thank you so much for sharing this.

[Amh22]

This is the protocol. Beckwith Wiedemann Syndrome St. Louis Protocol.

dropbox.com/s/670of2dd7jvq8...

[Amh22]

If you want, send me your email and I can send you more information about BWS. My baby was diagnosed at 6 weeks. She is 14 months, is fine and healthy.

[Jofus]

Thank you all for your reply. Hearing your stories about how your kids are still happy and healthy puts me at ease. I suppose I am in the unknown and worry stage. Especially after I found him unconscious!! Which actually doesn't seem to be linked in anyway. Well I can't seem to find any information linking it but i will keep researching just incase. The Facebook page is a great shout and if you could send me on more info via email that would be fab as my GP and health visitor haven't heard of BWS.

[Songbird63 Administrator BWS Support]

So sorry to hear of all your distress. The genetics test will confirm whether your son has BWS and if so which subgroup he is in. Which subgroup he is in determines whether he is at increased risk of tumours and whether he needs regular screening.

My son has BWS and is now 16 and very heathy. He had tongue reduction surgery at 20 months and epiphysiodesis surgery at 14 years to restrict his height. The vast majority of BWS children grow up to be healthy adults with no ongoing problems.

Take a look at the official BWS website that is supported by professionals across the UK. We have links with Great Ormond Street Hospital and other UK children's hospitals. The website is bws-support.org uk. Please be aware that some information you get on the internet that is not endorsed by medical professionals is inaccurate and misleading.

If your son has BWS with macroglossia (large tongue) he will need a referral to GOSH as they are the centre for UK BWS macroglossia. Again you will find information about this on our website.

Please come back to us if you have any further questions. Take care.

[Jofus]

Thanks for the links guys, I have been researching and listing down my sons characteristics so that I can show the genetics team. I'm just so scared they turn is away and don't actually test him. As my doctor has already warned me to stay off google but I can't help myself! I know my son better than anyone and can see all these signs pointing to BWS.

Is there a rough time scale on how long it takes to get the results back from the genetic tests? Since my sons episode last Monday I've not been able to sleep and I'm off sick from my work. Hoping to get some closure soon so we can put our minds at ease... Or if he has BWS... Move forward.

[Amh22 in reply to Jofus]

Hi, the genetic tests are not very important. All genetic tests can come back negative, but he can have BWS. This is the case for my baby. She has a clinical diagnose because all tests came back negative but she has the signs to get a clinical diagnose. If a baby has the signs, the baby has to follow the protocol!!! Good luck, I hope your tests show what he has, but in any case, please follow the protocol. The protocol save lives!!!