Appointment with Genetics team tomorrow and suddenly I'm terrified

[Philly]

i have posted before on here about ds2 who has various problems and I thought i had become imunue to all the tests as they never seem to come up with a diagnosis,but tomorrow we have an appointment with the genetics team from Addenbrokes.Over the last 6 months i have steered clear of the web and DIY research as it always seems to scare the wits out of me but almoist all the "experts "over the last year have suggested Williams syndrome and tonight I looked it up on the websites when the pictures came up of the typical facial charecteristics i could see why, it was my ds,we even call him our little pixie sometimes because his features are so elfish, and the descriptions of behaviour etc also seemed to tally.
The thing is that they have already tested him and the test came back negative.Is it possible to have a false negative or is it possible to still have the syndrome even if nothing shows up on the fish test.I am confused part of me, of course, wants there to be nothing wrong but he is like this he does have these charecteristics and problems (and he is my beautiful,lovable ds)and in a sense I want a diagnosis as the key to unlock more support for him and also to help him and if we are honest ourselves to make sense of everything.I so don't want to let him down and I so scared taht I won't be a good enough Mum to him.I am tired of all the tyestys I just want this to be over .

Philly, you really need bluebear. She would be able to answer in detail. I do know that there are cases of Williams syndrome that don't have the normal deletion, so wouldn't be picked up by FISH, but I would have thought that if they were doing FISH they would also look carefully at the karyotype (the chromosomes). The thing with Williams is that although there is one gene known to be involved, elastin, the other genes are unknown (there are almost certainly several that are deleted and contribute). It is conceivable that your ds has a deletion of the gene that gives rise to the facial features, but not all the others, for example, so he might have a kind of subset of Williams syndrome. Does that make any sense?

I am quite, quite sure that you are a good enough mum. The love just shines out of your posts.

I found a quote on a website regarding the FISH test:
"It may be possible, however, that an individual has most of the characteristics of Williams syndrome yet does not show that an elastin gene is missing. In such cases, only an experienced medical geneticist will be able to assess whether or not the questioned individual may have Williams syndrome"
It was from \link{http://www.wsf.org/medical/medical.htm\this website} which you might have already found.
Will be thinking of you tomorrow. Can't say any better than Tamum that the love just shines out.

Thank you this site is such a fund of support,perhaps blue bear will see this tomorrow.I think we are seeing very good team tomorrow so hopefully all will be well and whatever he will always be my ds.The ironic thing is his name is william,don't like giving details away likethat but it keeps playing on my mind.Today I just kept playing the day he was born over im my mind and the relief taht after sucha dreadful pregnancy we had this fantastic little boy and then all the milestones that he has missed and all the achievements against the odds ,he has his first trumpet lesson tomorrow afternoon and he is so excited!He doesn't desrve this.
anyway enough of this maudlin stuff,will keep you posted about what happens.

It's not maudlin, that's a lovely post. I hope his trupmet lesson goes really well, bless him, and that the appointment is not as bad as you fear. Do let us know, won't you?

Trupmet??? Trumpet

good luck for tomorrow, philly. Tamum is so wise and right- you are clearly a superstar among mums. Honestly.

No I'm not a superstar just like everone else really.It just feels like a huge responsibilty sometimes when you have one taht needs that bit extra

Hi Philly

If it would help I work with adults with special needs. Amongst their number 15 or so - 2 have williams syndrome.
I would be happy to write about the fulfilling life etc they lead if that would help you to see a future for your ds

I hope it goes well for you tommorrow

Just read your later posts and I am grinning because one of my clients is also called William with Williams syndrome :o

Actually surprisingly I suppose I don't feel worried about his future,he is the eternal optimist and I know that if we can get him through school without his confidence being broken he will be fine.As his lovely teacher this year says "he has a very strong sense of self"

Good Lucki for today Philly :)

sometimes it all just seems overwhelming doesnt it? we also have a child who has had every test going. Infact last appointment they also suggested william syndrome, but also it was negative. I dont know what to say other than I know how you feel.

Good luck today philly, keep us all posted, and please let me know how you get on and what its like???

I have the same appointment on friday with dylan, and i am beginning to get worried as of to what they are looking for.

Take care.

Butty.xxx

good luck philly and butty for your geneticists appts this week.

ds2 has been to see a geneticist a couple of times but he still remains without a dx.
everything has come back clear.

I hope you both get a dx
xxx

Good luck, Philly and Butty. :)

Well we are back,none the wiser really.The registrar was really nice and what was interesting was the way you became aware that you were right at the crossover between medicine and academia.I suppose I had hoped that as they already had some blood and his notes further progress would have been made from the tests so far but she started off by saying this was the beginning of the process really (and a sense of deja vous tookover!)She took the usual history plus details of our family tree,why do none of the professionals realise how difficult it is for the child to have to listen to you talking about them ds2 finds it excrutiating and no appointment ever goes well after this.We managed to solve this partly by dh taking him to the loo while i scooted through as much as possible.She then took photos of him and his hands etc and lots of measurements ,listened to his heart and looked at his joints
She agreed that he displays a lot of the markers for Williams especially the facial features and cognitive aspects but he has tested negative with the FISH test and this apparently picks up 95% of cases .
Anyway in conclusion she said that they would write to us that it may be a long process but they will use all the resouces at their disposal to try to come up with an answer.
It is difficult in some ways to feel mlike there is any point in this but I git the impression that there is a good chance that there is something genetic and it would be good to know which page of the road atlas we are on even if we are still not sure which direction we are going in.
Felt quite depressed this afternpoon at the lack of answers but got home today to find that the trumpet had been a huge success and he has come home with a trumpet which looks as old as God's dog and a huge suitcase to match! and is so proud that everything else seems irrelevent really.
Really hope your appointment in Friday goes well Butty it would be good to compare notes.Pinkerplink how old is your child?

Sorry it wasn't more conclusive, Philly. I guess it's just as well that they are being thorough though. Fabulous about the trumpet lesson, that's great :)

Hi Philly, only just seen this thread, sorry.
The FISH test picks up the deletion associated with Williams syndrome in almost all cases - the vast majority of cases are caused by a process which deletes a number of genes..elastin was thought to be the most important and is often the cause of a heart defect common in children with Williams, but the cognitive profile is thought to be due to the LIMK1 gene and it is usually LIMK1 which is used for the FISH test nowadays (although in most cases elastin will be deleted if LIMK1 is). There is a possibility of a very small deletion or a molecular mutation of one of the genes in that area which could result in some of the features of Williams (this would not show up on karytype or FISH and would need DNA sequencing of the Williams syndrome critical region to diagnose - not sure if this is available anywhere), or it could be a red herring.
Do you mind me asking if he is small for his age (just trying to think of genetic syndromes that have pixie faces but aren't Williams)

And just wanted to say Hi to Butty and good luck for Friday.

Hi blue bear ,yes he is slight for his age although recently he has had a bit of a growth spurt and has caught up quite a bit,he isn't the smallest in the class now.! though probably one of the lightest.I suppose it is just that when you look at the childrens pictures with williams the similarity is uncanny,however he doesn't seem (thank goodness )to have any heart problems and he does have quite a large tongue which she said was atypical of williams,he has been diagnoised with a low IQ however he is agood reader although maths is a mystery to him.To be honest I feel that I am at the bounds of my understanding and I am not sure I understand where they will go from here.Most of the time I am not bothered and then on days like today I so want an explanation that I feel I could cry with frustration.

He also has a slight scoliosis of the spine , leading to an immature stance (tummy sticks out)long thin legs ,poor muscle tone (although not really bad)slightly odd shaped willy ,small hands, and wide mouth.Makes him sound freakish which is not true and in fact he is a very attractivce little boy and when confident very chatty!

I've been looking up some things, but haven't seen any good fits yet.

There are some new tests which are just coming out of research and will become available in the next few years which can scan the entire genome for small abnomalities at a much greater resolution than that available now. I wish we could jump forward time for you.

I'll think some more.

The 'Chattiness' is very 'williams'

Oh thank you bluebear it's v.kind of you to take an interest.The team at addenbrokes said taht they will put it to their clincal dept meeetings and that it could be long process but on balance they think it is worth tryin g to get a diagnosis but on the other hand you do wonder what the practical benefits would be.It may be I suppose that they keep his details on file and in 3 years time we will get a call !amazing stuff though it must be v.fulfilling to be in such cutting edge area of science.

Hi Philly, could you mail me on blue bear two bears at yahoo co uk (remove spaces and add dots!)

Bluebear,have tried a couple of times but perhaps have got the dots in a few cases.You could try me on fivedotseagers at Tesco dot net