williams syndrome

[Jules38]

I am new to this board so would really be grateful for any helpful advice about williams syndrome. I have a daughter of 3 yrs 4 months who has speech & language problems, learning difficulties, and behaviour problems. she saw the paediatrician last November who suggested she has slight elfin features, which may suggest a trait in this syndrome. The learning difficulties, behaviour problems are also symptoms of this syndrome, she also suffers with very bad somach cramps which is another problem which may relate to it. I cant help but feel very worried about this as some of these kids are known to have serious heart problems, kidney problems, and stomach problems. She was tested in August for other things to see why she was behind for her age, and why her speech wasnt what it should be, and they all came back as negative. So now I dont know whether this doctor is just looking for something to put a name to whats wrong with my child or what, I feel quite anxious at the moment and dont know whether to have her tested privately just for peace of mind or wait to see the doctor in May when my childs next appointment is. The name of the test is a FISH Test which can detect whether or not she has the syndrome.

Just would be grateful for any advice on what to do for the best, even though her specical needs teacher who sees her once a week seems to think she does not have the symptoms, as she has taught a child with the syndrome.

Julie

[tamum]

Hello Julie. I can tell you a bit about Williams syndrome from a genetic point of view, if that would help? I know it's not the same as shared experience; maybe someone else will be able to help with that.

The thing to remember with Williams syndrome is that it isn't caused by a defect in a single gene, it's caused by a deletion (usually) of a specific part of a chromosome. This means that there will be a row of genes, all doing different things, which may or may not be deleted in any one person with Williams syndrome. So, for example, even if your daughter does get a diagnosis of WS she might have a deletion that affects her behaviour and appearance (the elfin look) but which doesn't affect the genes that give the more serious problems like heart defects. It's diagnosed on the basis of the piece of chromosome 7 that is missing, which is what the FISH test is, but the size of the deletion can vary a lot, and so the severity can vary in the same way.

Basically, I would go for the test, but even if it comes back positive, don't see it as meaning that your daughter will necessarily be any more affected than she is now.

If I can help with anything let me know; I'm sure other people will have much more practical advice soon.

[Jimjams]

My friend thinks her dd may have it- she's going to ask to be tested soon- at her next appointment- which is soon. Can you ask for the appointment to be brought forwards - or ring and ask the consultant to ring you. Alternatively your GP may be able to help.

My friend's dd is 7 dxed with autism, learning difficulties, epilepsy and she has kidney problems. She does have quite a William's "look". Epilepsy isn't part of William's but my friend thinks that may just be an extra, or that some of her drop attacks may be heart problems (which is why she wants William's ruled out- she's had kidney problems for years without anyone realising- she doesn;t want to find out years down the line that she's had heart problems as well).

I think its worth going for the test as if it does come back positive it means that she will be screened for heart and kidney problems- and they won't just be ignored. Best of luck and hang around here there are lots of us with SN kids (my eldest son is 4 and autistic).

[Carla]

Sorry I can't help at all Jules38, but just wanted to bump this up a bit in case anyone else can.
XX

[bluebear]

Jules - I work in a lab where FISH tests are carried out - You could discuss with your GP if they would send a sample of your daughter's blood directly to the regional cytogenetics laboratory with relevant details. You do not need to go privately.

[fio2]

Hello Julie,

I cant help with williams syndrome itself but am having similar problems with our dd atm. She is four and has a moderate global development delay, microcephaly, hypotonia, hypermobility and a squint (I think that is it! - but I cant remember at present) We are currently having genteic counselling but we dont know the cause either. My dd has had a full chromosome analysis (with I pressume is like the fish test?) but nothing abnormal was found. She has also been tested for retts (neg) ct scan was normal and metabolic tests were normal.

I did a google search for williams and there does seem quite alot of information about williams syndrome. I even started thing my dd had got it (please tell me I am not the only one who convinces themselves things like this!) My dd is very elfin too.

I dont know what else to write apart from I am sure you would feel better if you got a formal diagnosis if it were to be a syndrome. I know I would feel better knowing. If you want to chat, I am usually around

[bluebear]

Fio - The FISH test is a seperate test which is carried out as an extra test to the 'full chromosome analysis' (or 'karyotype' ). FISH is a technique for looking at parts of chromosomes in detail - so it has to be targeted at a particular area of a chromosome (eg. the area deleted in people with williams syndrome).

[bluebear]

Fio - The FISH test is a seperate test which is carried out as an extra test to the 'full chromosome analysis' (or 'karyotype' ). FISH is a technique for looking at parts of chromosomes in detail - so it has to be targeted at a particular area of a chromosome (eg. the area deleted in people with williams syndrome).

[coppertop]

fio - I went through a stage of wondering about Williams Syndrome too! It was when I first started doing some research into why ds1 wasn't talking at all and why he seemed so different to other children his age. We used to call him "Little Elf" because he looked so much like one.

I don't have any extra information about W.S. though. I really only looked at the basics when trying to find an explanation for ds1's 'ways'.

[jmb1964]

Jules - I agree go and talk to your GP about things, and see if you can get the appointment or the test brought forward a bit. It's not fair for you to spend months fretting about a particular diagnosis without access to any answers, and in my opinion very insensitive of the doctor to raise it and then leave you hanging like that. But as Jimjams says, you'll find loads of support here, I've found it a Godsend since our son was diagnosed with Aspergers last year. Good luck, and let us know how you get on.

[Caroline5]

hello jules, I would definitely try to get an earlier appointment so that you can get the ball rolling with the FISH test. Our dd2 is having a test for Retts syndrome - her DNA was sent off for the test in October and we are still waiting for the result So the whole process is pretty lengthy in our experience. Best wishes.

[fio2]

caroline hello, are you avoiding me? have you not got the result yet...? mind you we were always told no news is good news (and i think it is quite true, really) Please let us know how you are and how you get on

[Caroline5]

Hi fio - no I'm not avoiding you!! Sorry if I gave you that impression ! Will e-mail you now!

[Jules38]

HI again everyone thank you all for your replies, made me feel tons better already. Went to see GP again yesterday who suggested getting hold of paediatrican for earlier appt to put my mind at rest. My little one has been in quite a lot of pain with stomach cramps over the last couple of days, they prescribed more medicine for the spasms, so shall have to see whether that works now. Also been having nosebleeds quite frequently again. I suppose I am such a worrier at times that some of the symptoms of this syndrome are stomach cramps, constipation, high blood pressure, my mind goes into overdrive again. I may take up your advice bluebear and see if I can send th test off to a cytogenetics lab, I live in NW London, so dont know where the nearest one would be or how long it would take.

Anyway will be in touch again soon.

[tamum]

I should think it would almost certainly be the Kennedy Galton, Julie. Details below, but your GP will know. I would definitely press for an early test, to put your mind at rest.

North West Thames Regional Genetics Service
Kennedy Galton Centre for Medical Genetics
North West London Hospitals NHS Trust
Watford Road
Harrow
Middlesex HA1 3UJ

Tel: 020 8869 2795
Fax: 020 8869 3106

[bluebear]

Yes, the Kennedy Galton does the North London (West) region. The 'target time' to complete the test is 28 days from the sample being received at the lab....however, most of the London labs are being hit by staff shortage at the moment, I don't know how badly the KGC is affected but the result may take a little longer.
Make sure the doctor puts the blood sample into a 'lithuim heparin' tube ( this is an anti-coagulant ). It's not a very common test for GPs to request so sometimes they get this wrong. Also make sure that they are clear that they want FISH for WILLIAMS syndrome (FISH tests are used for other syndromes). (Not suggesting your GP is incompetent, just years of experience at the other end makes me a little paranoid about test referrals).

[Davros]

Jules38, where in NW London are you? I'm crap at meeting up with new people (ask maomao) but there's a couple of MN meet ups being organised that might be OK for you N London and NW London (but not SEN).

[Jules38]

Hi all, thanks again for your advice, will look into it.

In answer to Davro's question, I live in Hendon NW London, dont know whether there's any meetings around this area?

[Davros]

Jules38, we're neighbours! I'm in Belsize Park. There is a meet up today but over in Holloway. I would've gone but my baby's had suspected chickenpox and now a bad cold THere's another mner in Hampstead so maybe we could DO Brent X sometime or something else?

[Jules38]

Sounds good to me Davros just let me know when and a time, and we''ll take it from there.

[Jules38]

Hello again all, sorry its been ages since we last spoke, but have been getting dd sorted with special needs nusery. She's settled really well now and attends 4 days a weeks 5 hours a day, at last i'm having some time for me!

Just thought i'd let you know dd is being tested for Williams Syndrome next month after paediatricians visit this month. They will be sent to The Kennedy Galton Centre at Northwick Park. I hope we dont have to wait too long, anxious enough as it is already.

Had so many different opinions with people saying she looks like her big brother Gem, and that the doctors are just clutching at straws looking for an answer as to why she has developmental delay, speech problems, and behaviour problems.

Would be nice to hear how everyone is.

Bye for now

[karen99]

Hi Jules38. It's great that your appointment has finally come through. I have just noticed that you live in Hendon. I'm in Kenton (between Harrow & Kingsbury). I'm going to start a new thread for meeting in Brent Cross one morning. Look out for it and hope to see you there.

[Davros]

I'd come to Brent X but not mornings as DD always sleeps in the am..... keep me posted though!

[karen99]

Hi Davros! Have posted the thread under meetups. I suggested a morning cos I thought those with a second little 'un may need to do pickups in the afternoon. Either is good for me really. Post and see what replies we get.

[Fio2]

Hello Jules, glad things are moving forward for you and you are having a break whilst your daughter is at nursery (its great isnt it?) I think you are right about the clutching at straws, they just like to get a diagnosis so they what the future holds and what to expect. We are the same with our dd, quite scarey really

[Jules38]

Hi again, its been a while since I last left messages on here, we had some good news about my dd Sian, we had the resultd back last week for the Williams Syndrome test, all came back as ok, cannot tell you how much of a relief this was, but at the same time we are still not sure why she has developmental delay and speech delay. Sian will be seeing paediatrician again in October.