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Original poster

Genetic counselling, anyone else had it?

29 replies

fio2 · 13/10/2003 12:24

Well the genetic nurse has just been to the house to get our family history and stuff and to explain to me what is going to happen at the appointment with the geneticist for dd. I am shaking (think I need a glass of wine!) She said they may be able to give a diagnosis on the first appointment! or she may take photos of her and then refer to other geneticists. Oh dear I am frightened, I know it will be better to get a diagnosis but Im just scared it might be something really awful Please tell me to pull myself together

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Jimjams · 13/10/2003 12:36

Awww hugs fio2. It must be frightening. Are they going to do any blood tests? It sounds like if your dd had lots of physical markers they would have dxed by now.

Original poster

fio2 · 13/10/2003 12:40

yes I think they will do blood tests but she was saying she will measure her and takes photos of her face to see if she looks any different(!) We will have to be measured too! She said sometimes they just look at a child and diagnose it straight away. I am so wound up -wheres that wine?

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tamum · 13/10/2003 16:06

Fio2, I really hope it goes well. Try not to worry too much- it can't be anything well known or they would have worked out what is was by now. It sounds a bit as though they think it might be some subtle chromosome abnormality, but if it is, you have to just keep in mind that these can vary enormously from child to child depending on exactly what bit of what chromosome is altered. So, even if they say it's such and such a syndrome, and it sounds bad, don't despair, your dd may have a mild form.
You poor thing. Let me know if you need anyone else to talk to. Big hugs.

Caroline5 · 13/10/2003 16:17

Fio, we saw the geneticist this year too. They did the same - took family history, photos, measured all our head sizes , went through everything again about dd's development. When we saw the geneticist nothing obvious sprang to his mind, but he wanted to do tests for two syndromes which were possible, but not that likely (Retts and Angelmans). Be prepared for any specific tests to take months! Tbh, I think it's more likely than not that they won't find any explanations. Not sure whether you would rather have a diagnosis or not, but at least they are trying I think even if they don't come up with anything, they will still want to keep seeing your dd every few years as apparently things sometimes become more obvious with time.

Will e-mail you soon, honest, have been having a lot of problems what with illnesses and other stuff I won't bore you with. Seeing consultant tomorrow with dd - he's probably going to refer her for a gastrostomy Take care!

doormat · 13/10/2003 16:30

Fio agree with caroline and tamum.Also you WILL cope with whatever comes up as us mums are ready for anything good or bad that hits us.Hugs xxx

caroline my ds has a gastrostomy so if you ever need to talk about it I'm here.

Caroline5 · 13/10/2003 16:45

Thanks doormat, I'm hoping it won't happen but dd hasn't gained any weight in over a year and is getting more and more impossible with eating
. Will let you know what happens tomorrow. Good luck again, fio.

Blu · 13/10/2003 16:56

Pull yourself together!
No, sorry, I meant pull out that cork!
So sorry to hear that you're going through a shaky bit - processes always stir up everything emotionally don't they?.
Hold on tight, and hope that the testing helps you move forwards, whatever the outcome.

Original poster

fio2 · 13/10/2003 17:01

Thanks everyone tanum I have read up on rare syndromes and thought kabuki syndrome matched quite a bit, but she hasnt got very 'strong' facial characteristics - but I can see common traits iykwim

doormat thanks you cheer me up

Caroline Im glad you are okay I've been worrying about you Hope it all goes okay tommorrow

I think the genetic nurse must have thought I was mad!! I thought she was coming at 1.30pm but she turned up at 11am(!) I had done NO housework, there was piles of washing in the hall, and loads of FULL plastic bags as I was just back from shopping. I started crying doing the family tree, dont ask Then I had to run out the room because I could here the dog rumaging round in the fridge and as I am no good at lieing I told her the dog had opened the fridge door - her reply was 'what a clever dog!'..........oh dear bet she wrote 'weird family' on her notes

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tamum · 13/10/2003 18:13

Well, you'll be giving the geneticists a run for their money if it is Kabuki, there's at least one case of identical twins, one who has Kabuki and the other who doesn't. It's a bit of a challenge, to say the least! Again, though, it's one of these things that varies enormously.

I have to say, that was pretty hilarious about the dog Keep us posted. xxx

eidsvold · 13/10/2003 18:38

sorry to hear you are apprehensive about this... but I found for me - knowing what something was made it easier to except and deal with rather than not knowing.

Love the dog part - who cares what she wrote in terms of that - not important.. you are just lucky enough to have an intelligent pooch

JanZ · 14/10/2003 14:31

Fio2 - my god-daughter has kabuki and is the sweetest 4 year old you could imagine. Her facial traits aren't strong - really just the wide, big eyes. She's actually very pretty (but maybe I'm biased!) I believe that some of her other "markers" are something to do with her little(?) finger, her sticky out ears, hyper mobile joints and hip problems (she's had to have major hip surgery) and some gastro intestinal problems. Her social and language skills aren't as behind as her parents feared they might be - she chatters away and has a lovely character. She's now at a main stream school, with a full time support assistant.

It helps that her parents are medical and know how to access support - but more importantly, it helps that she is the youngest of 4 - her oldest brother is 13 - and the whole family are great at looking after her.

Original poster

fio2 · 14/10/2003 14:39

Thanks for that JanZ. My dd has the hugest eyes you have ever seen and is also very pretty she has got low set sticky out ears but they are not big. She has hyper mobile joints too. Also all her other fingers look normal but her little one is smallish but it really curves into the hand, looks a bit like it is broken - this is one both hands. Really sounded similar when I read your post

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ThomCat · 14/10/2003 14:51

Hi Fio - I had genetic counselling hon' but don't think our situations compare. However yes I did go for it as Lottie is translocation DS and was incredibly happy that we did as found out that neither Dom or myself are 'carriers'. I think that these things are always scary - but what's sacry about it is not knowing what's out there etc. Knowledge is power Fio and once you know what you're dealing with you can handle it properly. Good luck and lots of love - Thomcat xx

JanZ · 14/10/2003 14:59

My god-daughter's ears are also low set (and not big!). Her little fingers are either missing or have a very short joint - I seem to remember her mum saying that that that was one of the markers (and probably also proved that she was the carrier!).

It took them a long time to get a diagnosis - as they haven't yet found the specific gene for Kabuki, it has to be done by collating all the markers.

I'm not sure of all the details - they live 300 miles away, so I only get to see them every couple of months or so.

Original poster

fio2 · 14/10/2003 15:01

Thanks Jan - does sound quite similar.

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Original poster

fio2 · 09/12/2003 08:49

just to let you all know (tanum) that we had dd's appointment yesterday. It went well I think, not sure. Anyway she observed her for about 1 1/2 - 2 hours, so pretty thorough, measured her and us and did all the other stuff. Asked loads of questions. Told us about all the tests she had had already, which include Retts (!) and a full chromosme analysis - all of which were negative. She reinforced that it is definatley not Retts now, because the other paed still seemed to be hovering a bit - she couldnt see why they thought that in the first place.

The dr came to the conclusion that she doesnt know what it is. She has took some photos of dd to take to show her collegues and to have a think about it. Dr said dd hadnt got any genetic markers apart from microcephaly and her left finger being a bit bent up. She thought if it was genetic, it was subtle.

I raised my concerns about CP and she is going to get my notes (pregnancy and birth) to see if she can come to a conclusion on that - she didnt rule it out. The other paed had put she was born normally by c-section and my account of events did not tie in with his. So we will see what happens.

She also said it was not kabuki, although she could see why it would match.

Sorry if I have bored you all

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doormat · 09/12/2003 09:04

fio
how do you feel , I knew you were hoping to find an answer at this appt.
when is the next appt due for???
hugs
and take care
xxx

Original poster

fio2 · 09/12/2003 09:08

I actually feel happy! She answered alot of our questions and put our mind at rest for alot of things. She did say she would work hard to find a diagnosis for her. It is a bit frustrating though!

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Original poster

fio2 · 09/12/2003 09:09

she said she will be in touch soon, so dont know about next appointment-they seem pretty organised though.

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doormat · 09/12/2003 09:14

Glad you are happy fio
These geneticists must be trained up to be really nice as she seems lovely.Ours is.

tamum · 09/12/2003 12:26

Fio, I'm at work but couldn't resist popping onto mumsnet for news! I'll have to be brief, but I'm so glad it went well. It doesn't sound at the moment as though there is anything there that would suggest that any further children you might have would be at risk, does it? Great news that they have finally ruled out Rett, even though you knew that all along

Doormat, I love the idea of the training to be nice. Persinally I used to be horrid before becoming a geneticist

Original poster

fio2 · 09/12/2003 14:40

tanum - It does sound like good news doesnt it? She said a few things that confused us though. She kept refering to Downs syndrome, I think because it is a common syndrome with facial charachteristics - so we would understand. But then at the end she said dd was like a child with Down Syndrome but with no facial markers, but it couldnt be that because she had already had a chromosome analysis which was clear (?) Dh said he thought she was suggesting downs but I think she was just using it as an example, crossed wires I think(do you?)

Also she did say the importance of getting a diagnosis was in case we wanted anymore children. Sorry for keep going on!

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bundle · 09/12/2003 16:03

fio2, whereabouts do you live? I remember hearing about a primary care geneticist based at Guy's in London, who was appointed to fill in the gaps around the whole issue of genetics/genetic counselling. I've met him and he's quite personable

tamum · 10/12/2003 17:00

Sorry fio, only just saw this- I think your dh is wrong and you're right (sorry fio2's dh). There is no way that a child can have Down's and have a normal karyotype (chromosome pattern); it doesn't have to be a whole extra copy of chromosome 21, but there has to be an extra copy of a sizeable chunk of it to give Down's (translocation like Lottie). A piece that size couldn't possibly be missed by cytogeneticists. The only thing I can think of is that she might be wondering if your dd has a tiny extra bit (a duplication) but it would still have to be quite big to cause different facial characteristics and microcephaly, so it doesn't sound very likely. The only good thing about that would be that if she's right, they would know what to look for, as a lot of the genes involved are known.
I have a feeling I stopped making sense a few senteneces ago, so I shall stop there for now, but just ask away if anything else occurs to you

Original poster

fio2 · 10/12/2003 17:07

no I agree with you totally tanum, I think my dh analyses things too much - to do with being a design engineer I think! I just think she was trying to explain in simple terms so we would understand - which we did but she just confused us - oh dear! Thanks for all your help btw and will let you know what happens

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