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SN children

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Original poster

appointment through for genetesist, what now????

7 replies

butty · 13/04/2006 10:40

Hi,

well it,s been a while since any news on dylan, but i have just recieved his appointment to see the genetesist on the 5th of may.

In the letter, it says that i need to phone her beforehand to go through family history, but the problem is that my dp and his family won't talk about his dad as had a sexually abusive childhood, for which his dad got sent to prison and has never seen him since (20 years).

Is it really important that i find out about his dads side, i'm just really scared of bringing up his past.???

Also, can anyone give me any advise on the process as not too sure what will happen although i do know that they may not find anything wrong.

Sorry to ramble, your words of wisdom would be much appreciated.

TIA

Butty.xxx

OP posts:

Piffle · 13/04/2006 10:44

Just say nothing known of to your knowledge, that dh knows nothing about his fathers side at all.
Geneticists build up a family picture
You and dh, your siblings, your parents and any relatives from there on that stick in your mind who had any particular issues.
A genetic syndrome can still be dx'd without family history, but it helps them research how and why a syndrome passes on
Our dd had a spontaneous genetic mutation that caused her Noonan Syndrome.
HTH Good luck it is really informative btw and you can get counselling too xxx

Original poster

butty · 13/04/2006 10:54

Thanks for that piffle,

just wondered, you mentioned councelling.??

In what aspect???

Sorry to ask, but all i know is that it is about a 6 month process and i dont even know when or if we will get any results.

The pead mentioned that dylan had facial aspects and similarities of williams syndrome, although i cant see it my self he also mentioned a few other things as well as telling me that only 50% get a DX from genetics.

Butty.xxx

OP posts:

Philly · 13/04/2006 11:01

We have got an appointment with the genetics team from Addenbrokes on 2 may .My dh does know about his father but also has nothing to do with him also ds does not know that "grandad" is not dh real father.We have not been asked to call before and have to take ds with us,I really hope we do not have to discuss the history in front of him.

Williams syndrome was mentioned for him but he has already been tested and it was negative.To be hoinest I am not sure what to expect or weather they will come up with any more answers I am trying not to think about it.How old is your ds

tamum · 13/04/2006 11:06

Hi butty,

Anything you can find out would help, but bear in mind that they are going to be interested in childhood-onset conditions, anything that might be similar to your ds's problems, rather than facts like auntie May died of heart disease. If your dh had a childhood cousin, for example, with a lot of similarities to your ds then that would be useful information, but he would remember that for himself, wouldn't he? I really wouldn't worry unduly, lots of families don't communicate for all sorts of reasons, so they'll be used to it. As far as the counselling goes, it will predominantly be about any risk of future children having the same condition, what can be done to diagnose prenatally if that's what you wanted, what would happen to your ds's children, that kind of thing. I hope it goes well.

Original poster

butty · 13/04/2006 11:32

Hi,

Thanks for your messages. I don't know of any child with similar probs to dylan in the family or on dp's side.

I dont really know what to excpect, i'm kinda hoping that they dont find anything as i have accepted him as having GDD and hypotonia etc...

With regards to councelling and possibilities of other children, i won't find it neccessary as i have just had the go ahead to be steralised, it has taken 18months for the decision as only 24, but it is what i want, dylan is 3 with the above and chloe almost 6 has just been dx'd with ODD.

Butty.xxx

OP posts:

Piffle · 13/04/2006 15:41

Butty I recalle discussing this with you before
Have you had the FISH tests already?
And if it was Williams, its non hereditary so your family history should be ok to keep schtum about.
The counselling is great, you get your own counsellor and when you suddenly remember things you need to ask the geneticist you ring the counsellor and they ask for you.
Also for having more kids, risk assessment and they also support your kids as they grow up.
What are the featires that make them think Williams again Butty?

Original poster

butty · 19/04/2006 11:33

Sorry for taking so long to get back to you piffle, been on holiday!!!!

The features are: Blonde hair, wide flat bridge of nose, very bad teeth, slanty eyes etc...

But these were all the things they said when they mentioned poss mosaicism downs, of which has now been ruled out after skin biopsy.

We havn't had any fish tests yet as this will be our first appointment with them.

I really dont know what to think, and regarding williams syndrome, i thought they had a unique jaw line and chin as a definative feature, sorry to offend anyone if wrong, i only know as an older boy i know has williams, and his grandmother says that is a feature in most cases.

Anyway, sorry to rant on.

Hope to hear from you soon,

Butty.xxx

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