Here are some suggested organisations that offer expert advice on SN.
Williams Syndrome - some information and anyone else out there?(14 Posts)
MandM hope you dont mind, but I copied and pasted your post into a new thread because I felt it was really informative and might not get the `airing' it deserves under the MMR thread.
Hope I've not been too presumptuous :-
Anyhow, here's what MandM has to say:-
Haven't been able to log on since Thursday and was just catching up with some of the postings. I noticed that Charlie95 and OnlyJoking had both asked a few questions about Williams Syndrome and just thought that you might like to know a little bit more about it as it is quite rare and most people don't seem to have heard of it - I certainly hadn't until 3 years ago!!!!
Williams is a genetic disorder that only occurs in about one in every 20,000 births and can occur without any family history of the disorder, although people with Williams Syndrome have a 50%+ chance of passing it on if they have children of their own. There is also no link between siblings, so if we were to have another baby (dh says 'if', I say 'when'!)it would be at no more risk of having Williams than any other baby.
The actual cause of Williams is a missing elastin gene from Chromosome #7 - there should be two and babies born with Williams Syndrome only have one. This is detected via what is known as the FISH test.
As with some other genetic disorders, people with Williams Syndrome inherit certain distinctive facial characteristics - gorgeous ones in my dd's case of course!
The syndrome also brings with it charcateristic behaviours and developmental delays in one/several/all areas - in other words as per everyone else children with Williams are complete individuals each with their own particular talents, special qualities and particular needs.
I've (hopefully) included a link to some further information at the bottom of this posting that you can click on to have a look at what I mean and find out more.
Apologies if this is long winded, just thought it would be useful/interesting to those of you that didn't know much about this disorder.
Also, are there any other Mumsnetters around with a child who has Williams Syndrome. If so, I would be really interested to hear from you.
[MandM did include a link here, but it didnt work]
MandM - My ds2 has unexplained global delay. We are going down the route of genetic testing and someone mentioned the FISH test to us too, but in connection with a different syndrome.
Your dd sounds lovely and welcome again to Mumsnet
Merlot, that's not presumptuous - it's very kind.
Merlot - FISH is a technique used to look at very small parts of chromosomes - for Williams syndrome it is used to look at the number of Elastin gene locations...but it can be used to look at other gene locations for other syndromes ( I carry out FISH tests all day )
Thanks Merlot, that was really kind. I did think about starting a new thread, but didn't want to "force" information on anyone. I feel a bit like I'm on a one woman crusade at the moment to explain about Williams Syndrome to as many people as possible as one of my biggest fears is dd being 'misunderstood'.
And yes, although I'm obviously biased, my dd is fantastic! She's a gorgeous, cheeky, naughty little monkey. She's very strong willed and extremely communicative and outgoing. There are a lot of milestones for her to reachand things for her to overcome but we wouldn't change her for anything.
good one merlot and MandM,
i know a youngster with williams syndrome,and would love that link you mentioned
fascinating mandm, my daughter has a 1 in 40000 Noonan Syndrome, also facial characteristics again GORGEOUS ones!
Soem delays due to physical weight and low muscle tone, but only 25% will have learning disabilities, all tests in that direction look good for us.
Only one part of one gene has been isolated for Noonans PtpnII gene which it seems is the familial inherited part, our dd is a off chance mutation BUT we have a 0-5% increased risk of having another baby with it. DD is mild but serious cases of NS can be really devastating so it is under discussion at the moment.
Syndromes are just amazing, I would not trade my daughter into being unafflicted I believe a large part of her gorgeousness is down to her NS and I could not change it!!!!
They are very close to isolating another part of the gene which might give us an answer.
Although the geneticist likened it to a degree of a double barelled word being mispelled , some kids have entire words missing dd has maybe a one letter misspelling.
What facial characteristics mandm? Just out of interest, if you feel ok talking about it?
I think christie teaches a child with Williams Syndrome. If you bump this on Friday she might see it, that's her day for working at home.
Hi Piffle, really nice to hear from you. Noonans is something I hadn't heard of until yesterday, but I'm going to have a good look round on Google to find out some more about it - I find the whole subject of genetic syndromes fascinating.
Facial characteristics typical of people with Williams are 'pixie-like' faces with a broad mouth, wide spaced teeth, large almond shaped eyes and a flat bridge of the nose. God, I've just read that back and realised that I've painted a horrible image - my powers of description are not very good! Please have a look at the WSA websites for some photographs that will give you a much better idea than I can.
How old is your dd Piffle?
Beansontoast - I'll try again with the link but if it doesn't work if you put 'Williams' Syndrome' into Google it should bring you up the US and UK Williams Syndrome Association websites. click here
thanks alot..was going to google it . its nice to go to a site that has parent approval though.
dd is 27 mths, NS facial characteristics are down sloping wide spaced eyes often bright green or blue, droopy eyelids (ptosis) low hairline/short neck, webbing on the neck, low set back rotated ears, dry curly hair
many other features includes high arched palate, larger pad on fingers and toes, deep palm and sole of foot fissures short stature.
DD has mildly droopy eyelids, giving her a sleepy appearance, but not affecting her vision, so any correction would be cosmetic which we're leaving up to her.
She has a short neck, stunning soft blonde curly hair, huge blue eyes,square ended fingers with the increased pads and fissures. It does sound ghastly when you write it down doesn't it?
Recently she has really started to grow into her features and most doctors predict that by teenagehood the majority are indistinguishable from the standard population, size being more of an issue for boys it would seem we have gotten off quite lightly in a lot of ways. But as with all syndromes the fear is the unknown, NS is subject to change at anytime and deafness and scoliosis are not uncommon as children grow...
I too find it amazingly interesting!
link here for the NS group which is US based
It is run over here by BDF newlife (originally Birth Defects Foundation - that title took some getting used to I can tell you)
I have found loads of support and our geneticist says I clearly know more about it than she does now!
Noonan Syndrome Support site
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