Beckwith Syndrome (long explaination)

[Paula71]

Does anyone know where to get information on this?

My friend's baby boy was born with it, he is two weeks old now and doing fantastically well, a gorgeous wee babe. However the "experts" have been less than helpful and she is stressing out over not knowing enough! (Not how she should be feeling after a horrific birth experience and having her ds in special care for the first part of his life.)

She didn't even know he had taken two fits in special care until she read a letter sent to her from the medical staff! They have said it was Beckwith Syndrome, apart from that they have given her nothing!!!!!!

I feel kind of useless trying to comfort her while being completely ignorant of this whole thing - I had certainly never heard of it. I know she would appreciate anything I could print out and hand to her! Knowledge is power and she is feeling like the doctors are treating her like an idiot - I am tending to agree with her!

I realise how lucky I was to have ds twins born so healthy.

I have done a quick google and found this

www.geneclinics.org/profiles/bws/details.html

hth

type in beckwith syndeome on a search engine and you'll get loads of sites.
hth

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Thanks folks, I should really start using Google, hmmm? I shall try and find some support groups as that would help - you'd think the hospital could have put her in touch with one! It is worrying how little they tell you about your own child and then expect you to cope!

Thanks Twiglett for the link, reading through her ds has a few of the more common features, the large tongue - which meant he had trouble feeding properly at first,"crinkly" ears and he was long and heavy at birth.

I hope she can get some peace of mind reading through this, maybe give her some questions for the doctors. Thanks again, all help appreciated!

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I agree with Twiglett. The way your friend has been treated is terrible. When she feels up to it she should complain to someone about the way she has been left to deal with this all alone. Maybe the people at one of those support groups will be able to give some extra help with that too.

I have already said to her to complain and once everything is settled she is intending to. What was evident, and what has hurt her the most is how she was treated as an idiot and her ds as an experiment!

The "red health book" we get to record our children's weight/height/health until the age of 5 has been filled in wrongly. We sifted through the paperwork she brought back and there are things on there I think should be in the red book as they are important to her ds' future health. His condition hasn't even been put in and this book is supposed to be there so anyone can immediately access a view on what your child has had, medicine wise,illness wise! She is going to see with the HV about getting it corrected.

Her view is that because of where we live they think we are all social outcasts, rather than on low incomes and therefore treat us like imbeciles. I tend to agree. It is shocking but not surprising really.

Update.......

Just to show how important these support groups are. Turns out the hospital geniuses "forgot" to tell M that her poor ds should be sleeping at a 45' angle. As a result, while they had thought he was turning purple from anger, it was because his tongue was choking him!!!!! If she hadn't read up on these links and discovered this through mentioning it to someone from the support group I dread to think what would have happened.

The poor lad has a whole bunch of things wrong with him now that the hospital gave bad advice and M has been told it could have given him brain-damage!!

A strong letter of complaint does not tell the half of what M and her DH are preparing to do. It is utterly shocking that so called professionals haven't bothered to read up on a syndrome they know a patient has. Luckily M is a strong person and will fight this incompetence, God knows what I would have done in her position.

As you can imagine the hospital is now in panic mode, not over what they have done to this baby but over what M and her DH will do! Horrible!

Unfortunately doctors etc tend to treat ALL mums as idiots - it not just that you're in a low income family. The whole sorry catalogue of errors that your friend has had to go through is par for the course I'm afraid. Has she found a support group? They will be far more helpful, and will have far better information than any doctor or other professional unfortunately. And they'll have time to talk to her.

that is APPALLING treatment, kick up a whopping stink.
By comparison my daughter was born with a genetic syndrome too (Noonan) and we were xrayed, scanned, counselled, trnasported and supported personally by senior consultants. We are still supported today and this is how it is meant to be!!!!!
Can I recommend the Birth Defects Foundation, once you get over the name, they provide wonderful phone counselling and follow up, they source information for you, they are truly amazing people.. They can also put pressure on health services for you, we also found our GP very helpful at chasing up the hospital if needed.
Good luck,
xx J
www.birthdefects.co.uk

kiwisbird- were you in the UK then? Just interested as your treatment sound excellent- far better than anyone I've come across. Of course a lot of it depends on where you live in the UK (postcode lottery and all that). After 7 years of crap treatment down here my friend has just had a referral to Bristol- who were horrified that her dd hadn't seen a neurologist, genetic counsellor, had chromsosome checks, had eegs (she has poorly controlled epilepsy).... or basically had anything done. Sometimes I think its worth moving

Paula, that is just absolutely awful and your poor poor friend I am not suprised though and I do hope it hasnt caused him any further problems even if they are suspected.

jimjams is that your friends daughter who sounds similar to mine? Because I am getting more than a little peeved at our situation, us having to wait until dd is 4 to say you need genetic counselling before a diagnosis, then the genetic counsellor turning round and saying no not genetic, its the birth - then silence. I am so mad, but we are at a loss of what to do.

I live in Fleet, Hants, we went to Frimley Park (about to be a foundation hospital we think - call me cynical but they probably have upped their anti in recent years ,so to speak , in order to qualify)
We were fortunate that we saw an excellent paed consultant - autism is his specialty actually - he investigates and lectures on diet/diary and autism
He is Dr Mike Tettenborn - he has been the one to refer us on to others, St Georges for genetics, Southampton for cardiologist (we chose this over Great Ormond St.)
I know we were fortunate, I wasn;t optimistic as maternity was dreadful.

try this online group too Paula
www.beckwith-wiedemann.org

oh f* Tettneborn- yes he is a star!!! Yeast man. You lucky person you. I've heard he's very good. SOmtimes toy with going to see him (would have to be private I think).

fio2 No idea what to suggest. Freind pushed and pushed for neurology appointment (alhtough first had to change consultants).

jimjams - what would a neurology appointment be? I have posted before because dd was given a CT scan but we have been advised by people to push for an MREI because it is more detailed and would show the damage?! sorry to pester you () dont mean to

MRI I meant!

Jimjams re Dr Tettenborn, he is a practical non hysterical very calm and logical man, he talks to you as if you are the most important person and always addresses your children with respect, he remembers minutiae about your life and makes home calls to check up on you from time to time.
We are moving to Lincoln but I will still drive down here for her appt's he is that good.
I thoroughly recommend him, he is wothout exception the most compassionate and intelligent health professional I've ever met...

Paula71 not sure if this thread is old and finished but this thread just jumped out at me, I have Beckwith Syndrome and wandered if there was anything I can help with. To be honest I'm no expert but there are varying degrees of severity and seemingly wide number of symptoms. For me it means my kidney, liver and tongue were larger than normal - not so much of a problem now that I'm an adult - liver and kidneys still bigger than average but tongue not a problem. Had to have speech therapy as a young child, could talk clearly but used to stick my tongue out, speech therapy corrected that. I have pollups on my liver and kidneys and as a child had to have regular scans, this was because of a higher risk of certain cancers such as wilms (not sure of spelling) tumours - again nothing ever came of it and I gave up having the scans when I hit my early teens. 26 years ago, when I was born (14th Feb 78), not a lot was known about this syndrome and from what my parents tell me they had a really distressing time of it. Cardiff is a university hospital and so they wanted to do a lot of poking and prodding around but also had some very good genetisits who were helpful. Another asociated problem is that of an exomphlus (again query spelling) which I had, which basically meant some of my bowel etc was outside of my stomach in fluid filled sacks - I needed an operation to put this back and have a neat scar where my belly-button would be. Beckwith babies also often have a large birth weight, I was a month premature but weighed in around 9lb. I have to varying degrees been a source of fastination on and off to drs, dh and I have had genetic councilling and it is very unlikely to effect any children we have - they think it was a random gene thing with my parents, no family history etc. Like I say don't know if any of this helps, but from a very shakey start as a baby and despite the doom and gloom chat from medical folk, I'm 26 with no problems or complications and it's had no major impact on me - apart from leaving me with an abiding dislike of hospitals. Please give my very best wishes to your friend and her little boy, and please get in touch if you need to.

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