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Original poster

Appointment with Genetics team tomorrow and suddenly I'm terrified

44 replies

Philly · 01/05/2006 22:05

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 .

OP posts:

bluebear · 03/05/2006 21:22

I wrote it too confusingly sorry. I'll try to mail you.

Original poster

Philly · 03/05/2006 21:24

Think i may have just done it as has not bounced back!!

OP posts:

bluebear · 03/05/2006 21:36

OK, Hopefully have sent you some info.

bluebear · 03/05/2006 21:50

I have sent you a long mail with some info in (about a research team who specialise in atypical Williams) and a second mail with the contact details - think you may have only got the second one :(
Have tried to send the long one again - don't want to send the whole of MN to sleep with all this genetics talk!

Squarer · 03/05/2006 22:27

FWIW I find it fascinating BB
I hope you find your resolution Philly

Original poster

Philly · 04/05/2006 09:09

Many thanks Blue bear,hopefully your exam went Ok.Had to lig off last night as phone rang,dh home and hunting for food etc and did not get back on will have alook when get home from work today

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Original poster

Philly · 04/05/2006 09:10

Log off not lig off!!!!

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bluebear · 04/05/2006 21:31

Hi Philly, I have had another attempt at sending you the mail - it's long or I would post it here.
Today's exam was a mock, real one is next week - so I'm off to put nose back to grindstone.

Piffle · 04/05/2006 22:56

Philly. I have a dd with Noonan Syndrome, Williams is often misdiagnosed/crossed with Noonans...
I think it is only the FISH and hypercalcemia and the learning difficulties (in about 25% of Noonies) that are the most distinctive differences. I'm only a lay person though :)
I do know how much a diagnosis can change your life though, it is a great relief to know and to access the best help for your family.
Happy to talk more if you need
I'm also the mum to a elfin girl and adore her to pieces.
How old is your ds? My dd is 3.5 and doing VERY well!

Original poster

Philly · 05/05/2006 08:49

Thanks Piffle,he is 9 ,I think our problem is that comapred to many children his prob;lems are fairly marginal so he is always caught between two stools ,not bad enough for everybody to be rushing around trying to find out what is wrong but bad enough that people are aware that there is a problem.

I do sometimes wonder if we are going down this route for him or us but have decided taht really it is for all of us ,his elder brother at the moment isstruggling a bit with him and I think a diagnosis of some kind would help him to cope too.
So glad your daughter is doing so well

OP posts:

bluebear · 05/05/2006 09:50

tried to send it to your other email addy now Philly. Might have to resort to posting it here, if this doesn't work! (So strange that the other mails get through!)

Piffle · 05/05/2006 13:30

HAve you had a look online at Noonan Syndrome at all Philly? Does it ring any bells with you re your son?

Original poster

Philly · 06/05/2006 18:53

Blue bear hopefully you have had my reply that the Email came through to work address.
Piffle some things are familiar with the Noonans but he doesn't have the heart problems.From looking at all these sites it seems to me that he has lots of markers taht pop up with genetic problems so it seems likely that that is the root although if we will ever get to the bottom of what I can't say and I think you just have to focus on the here and now.My main nightmare at the moment is what will hapeen for secondary school and how he will survive,but thats another topic

OP posts:

bluebear · 06/05/2006 23:38

Had your reply Philly - glad you got it at last.

Original poster

Philly · 24/05/2006 09:10

Reviving this thread because I just wondered how long anyone would think it would be before we hear from the clinic again.It has been three weeks ,I expect it seems longer to me because you are always watching the post.i know they won't be writing to tell uis what the problem is (think I am recionciled to that) but its just the not hearing anything,I would just like to know what sort of things they are thinking about,if at all or if they think the whole thing is a waste of time.Do you think I am being unreasonable?

OP posts:

butty · 24/05/2006 14:40

Hi Philly,

I don't think your being unreasonable.

We were told at dylans appointment that provididng they had the right blood samples already, we should have the results with 4 - 6 weeks, but it also depends on when the genetisist can arrange an appointment.

we had a letter a week after the appointment from the doc explianing what we had talked about and exactly what they were testing for, they also told us that they had the right bloods, so hoping to find out soon.

But also to advise that in my letter and at the appointment she confirmed that only 50% of children who have fish tests get a DX, and if they are one of the unfortunate ones or fortuneate not to get one, they will retest again in 2 years as she said that there id always new technology and more understanding.

Hope you don't worry too much, i know it is easier said than done and we are both in the same boat, but hang on in their lass.

Thinking of you,

butty.xxx

Original poster

Philly · 25/05/2006 08:20

Thanks Butty,they did say they would revisit his FISH test as it was negative but he has a lot of the markers for Williams syndrome,also that she was going to pout it to the Dept meeting (whatever that is)it would just be nice to know if they have just given up on us or if something is happening,she was lovelly so I don't want to hassle but it's the waiting.

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FioFio · 25/05/2006 08:22

This reply has been deleted

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Original poster

Philly · 26/05/2006 09:00

OhI suppose I shoudn't be surprised really

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