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Original poster

Results of my translocation situation

32 replies

ThomCat · 10/12/2003 16:22

Wasn't even sure how to word the subject - it's all a little bit mad really.
I wrote an article for the Down Syndrome Educational Trus,t which they are about to print.
As you may or may not know Lottie is translocation DS, which usually means that one of the parents is a carrier of the extra chromosome, in fact it always means that I think, apart from mine & DP's case.
The main medical advisor, professor * * at the DS Ed just rang me as he was amazed by these facts and wants to look into the how it turned out to be a fluke etc.
All interesting and a bit exciting, after all I'd like to know a bit more but there is also a small part of me that is so scared.
I have a butterfly sensation in the pit of my stomach ever since I spoke to him a couple of hours ago. I'm sure it's all fine and some of the butterflies may be to do with excitement at the prospect of him looking into it all and stuff, but what if.......
I'm trying not to go there, wherever there may be but........ hmmmmmmm!
Anyway, it's the sort of thing I thought I should share with you!

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fio2 · 10/12/2003 16:52

Thomcat join the club - frightening isnt it? As you know we are still looking for a diagnosis and are having genetic counselling at the moment - but its the not knowing and finding out something you really dont want to know about iykwim Our dd's could be unique and its quite a weird feeling.

Hope it all goes well for you and your baby is gorgeous anyway

tamum · 10/12/2003 16:52

Oh poor you, Thomcat, are you worried that there has been some kind of mistake and you are a carrier after all? Don't be, I'm sure that can't be what's happened. There are several possibilities, but I would have thought (without wishing to second guess the professor!) that the most likely thing is that the translocation arose very early in Lottie's development, maybe even at the single cell stage. If there's anything I can help with, don't hesitate to say!
xx

Original poster

ThomCat · 10/12/2003 17:21

I am worried about that Tamum yes. I know that it's quite unlikely, but just that tiny niggly fingernail's worth of apprehension is enough to make me feel a bit unsettled, you know.

Like you say Fio - it's the whole idea of being unique, flukes of science, and having professors interested for no other reason than their own curiosity as to how and why. It's just all a little strange.

I feel a slight feeling of being guinea-pig-ish / exposed / weirdo in a cage type thing. It's not a big thing, but enough to make me feel a bit strange and apprehensive and curious etc all at the same time.

As long as they don't find out anything I'm not going to want to know (!) then at the end of the day it will be very interesting to find out how this fluke translocation happened.

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fio2 · 10/12/2003 17:25

I do hope it goes well thomcat and I know how you feel about the guinea pig kind of thing. The genticist has took photos of our dd to show her colleagues and I had to sign for her to show them but also she asked me to sign so they could use her as an example in teaching students (I feel all funny about that now!) Do you know what I mean? I know it has to be done but its like they all discussing your little precious without you there to say, well thats not right because she does ab and c etc..

Anyway I'm sure with Lottie it will be as tanum says and it occured earlier on. Lots of Love from me xx

Original poster

ThomCat · 10/12/2003 17:30

I know what you maen about the photos Fio. When Lottie was 3 or 4 days old the hospital took loads of photos of her for their medical journals etc. I wanted to be helpful and stuff but didn't like it at all really. It was like '...and here's what one looks like', type of thing. However if it means that people will learn something, or spot the signs in another baby and therefore help another mum, it was worth every click of the camera.

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tamum · 10/12/2003 17:46

I do understand, Thomcat. Could you get back in touch with the geneticist who did the test (the one who hugged you ) and ask her for reassurance? As far as the professor is concerned, I would be amazed if he was able to find out anything much about how the translocation occurred.

I can completely understand about the photos too; I always hate it when people show pictures of patients in seminars as it seems such an invasion of privacy if they're really ill. The only comfort I would take would be that anyone seeing Lottie or your dd, fio, would be to think how gorgeous they are

Original poster

ThomCat · 10/12/2003 17:57

Oh Tamum - how did you get to be so lovely.
You remembered about her hugging me - how wonderful and brilliant are you!! That all gave me a lump in my throat.
Thanks for the photo comment as well. At the end of the day I felt at the time, and still do now that it was and is my duty to help educate people in my own small way. Be it having pictures of Lottie used in journals or telling people how having a child with DS is a positive and wonderful experience.

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tamum · 10/12/2003 18:01

I'm sitting here with tears in my eyes. Thomcat, thank you, and how lovely it is that you are willing to share your love for Lottie with complete strangers.
Cathy x (just felt like being upfront and not using a pseudonym!)

Original poster

ThomCat · 10/12/2003 18:07

Oh Cathy stop - now you've really got me going. Oh blimey! How gorgeous of you to share your name with me at that moment. Wow, a little thing like that just meant a great deal to me. Sorry to make anyone else reading this feel like throwing up but I really feel incredibly fond of Cathy / tamum right now and she's made me feel really bloody good! Thanks Tamum, you don't know how much better I feel just knowing there are lovely people like you out there. My concerns are still there but they're squashed down havinmg to make room for the warm feelings you made happen! I have to go now but have a lovely evening and maye we can chat some more later.
Sara x

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tamum · 10/12/2003 18:12

That would be lovely Sara. I wish they had a little blubbing smiley with a grin but tears pouring down!
(I have a horrible feeling everyone else is sitting here with fingers down their throats ))

fio2 · 10/12/2003 18:19

I'm not! I think you are both lovely too and I dont know what I would do without mumsnet - it keeps me sane suppose you all know my name anyway!

coppertop · 10/12/2003 18:47

Awwwww. No fingers down the throat here either. What lovely people you are.

Jimjams · 10/12/2003 18:56

TC- I know of someone else it happend to as well. My friend worked in a cytogenetics lab in Argentina and she came across a translocation case of Down's where neither parent was a carrier. The chances are millions to one, but that just means lottie's one in a million (but then you knew that already).

Original poster

ThomCat · 11/12/2003 11:11

Thanks JimJams, fio and tamum. There are times like now when Mumsnet is my lifeline. Thank you.

I did something quite mad last night girls - I kind of proposed to Dom!!!!!!!!!!

We were talking thing over and I went over to him, and got down of both knees and just said 'Do you think that when Lottie walks we might get married and then she can stand at the alter with us'! So looks as if I have yet another incentive to help get that girl walking!!!!

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2under2 · 11/12/2003 11:23

Thomcat, just a quick post (still adjusting to hectic life with 3 kidddies) - I know two children with translocation DS here in Harrogate, and in both cases it's also just a fluke with neither parent being a carrier. I don't know any with an inherited translocation!
Oh, just read your last post - how exciting. And what an incentive to get Lottie walking!

Lou33 · 11/12/2003 11:26

I take it he said yes TC! Congratulations! You know where I am if you want to chat about Lottie and anything else.

Original poster

ThomCat · 11/12/2003 11:28

Hi 2under2 - or should that be 3under3?
Anyway - yeah - it's all a bit strange really. The professor the genetic counsellor, the paediatrician all made such a thing about us being carriers and then were all so shocked that we weren't but I don't really get it. The counsellor said our results were the best she?d ever had and the professor yesterday was so excited and amazed by it - ?????????????
I'm just not going to worry about it and forget all about it. The professor can do what he wants to do and get back to me on if he wants but I'm going to forget all about it for now and concentrate on getting Lottie to walk!!!!!!!

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Jimjams · 11/12/2003 11:56

Get that girl walking! I love a good wedding

Lou33 · 11/12/2003 11:59

We'll have to plot what to wear Jimjams .

Original poster

ThomCat · 11/12/2003 12:12

You'll have a while to decide on your outfits girls, it could be a year or so at least. Then again that's not fair on Lottie, I could have her walking by Feb! Shoot!!!! I'll go into a blind panic now the day she stands up and walks!

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Blu · 11/12/2003 12:22

WHAT A THREAD! I am reeeling! TC on all counts!

I think it is BRILLIANT that you will get so much serious attention from the Prof, ans all i can say is that if I was the Mum of a gorgeous new (DS) baby in a few years time, and your research helped give me a glimmer of new perspective or help, i would love you to death, whther or not i knew who you were. Well done. Anyway, think of it a bit like MN: sharing info with those who need it, rather than the intrusion bit.

Aaaah! And your proposal...life is just so HAPPY! Honestly, even if I had time, I will NEVER want to watch Eastenders again: why do we want to watch the voyeuristic fantasies of ratings-drven egotistical producers spinning out storylines of women humiliated beyond all sense for our 'enjoyment' when we can celebrate the real lives of strong loving women and their children on MN!

A Big Toast to the ThomCat family, and lots of love.

Jimjams · 11/12/2003 12:27

I'm hat hunting right now

Original poster

ThomCat · 11/12/2003 13:50

Bless you Blu

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tamum · 11/12/2003 14:04

OHMIGOD OHMIGOD OHMIGOD
I just popped on to Mumsnet after some quick research into Down's in my lunchtime, and what do I find!!!! Thomcat, that is such wonderful news! Jimjams, if we were a bit closer we could have shopped for hats together .

This will be a bit of a comedown after that, but just briefly, from what I can see in the literature, translocation Down's arises de novo (i.e. not from either parent) in between 33% and 50% of cases depending on which set of data you look at, so it doesn't cast any doubt on the diagnosis at all. I can't quite figure why the prof is so excitied, but maybe the other chromosome (the bit that chr 21 is joined to) is unusual?

Anyway, enough of that, CONGRATULATIONS! I have to get back to work now but will definitely be back this evening. Soooo exciting!

Original poster

ThomCat · 11/12/2003 14:09

Hi Tamum and thanks.
Yeah I'm confused by not only the excitment of the professor but also the genetic consellour as well really.
I've given preof all the paperwork I have and said to call me if he finds anything exciting. Other than that I think I'll just forget about it.

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