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Dreading the worst tomorrow.....

(34 Posts)
MRSVICTOR Sun 06-Sep-09 09:16:07

So life is great and we're trundling along quite happily, 41 first baby, scans all fabulous and apart from an occasional chunk of brie i've done everything by the book.
Having the amnio was a bit of "oh will we wont we" but as we're older we decided to go for it - never for a minute thinking anything could possibly be wrong.
Fast forward to Friday when our world crashes down to our feet. Our little baby has 'chromosonal abnormalities, very rare, haven't seen anything like it, surprised the baby hasn't miscarried' - WTF?
Turns out our baby has sex chromosomes XXXXX or pentasomy X syndrome as I now know after many hours on the internet. I haven't read anything positive on the net about this condition, apparently there are less than 100 reported cases since 1963, so i'm hoping the consultant tomorrow is going to tell me something magical and its all a big massive mistake.
Does anyone know if its possible that the results from the amnio can be wrong? Could the placenta have these abnormalities and the baby fine? Can anyone give me a little ray of hope from somewhere????????????? Virtual hugs also gratefully accepted.....

MagNacarta Sun 06-Sep-09 09:18:19

I don't know anything about the condition or amnio's, but wanted at the very least to give you a huge un MN hug.

Someone else will probably know more.

Chaotica Sun 06-Sep-09 09:22:56

No advice but a virtual hug. I wish you and your lo all the best.

HumphreyCobbler Sun 06-Sep-09 09:28:01

Oh I am so sorry. I do have an understanding of what you are going through as I discovered at 21 weeks that my baby had Patau's syndrome.

It is so hard, and so unfair that you and your baby should be going through this.

busierbee Sun 06-Sep-09 09:29:14

Dear person
I know nothing about this condition I am afraid but I do know how one's world can come crashing around one's feet when given this kind of diagnosis. You are in shock and you need all the help and comfort you can get. Be guided by the medics, maybe contact ARC -ante-natal results and choices -they will have more information on the condition.
I am so sorry to hear that you are going through this- treat yourself gently, hold on tight to whoever you need to hold onto.
And an enormous gentle hug.
Bee xx

MRSVICTOR Sun 06-Sep-09 09:37:54

Crikey that's me off crying again, thanks ladies for all your kind words it does help.
I only came across this thread thanks to peanuthead who's going through similar. Reading through what everyone is going through or has been through was very emotional, and I felt guilty for trundling along in my little bubble in blissful ignorance. Big hugs to all you wonderful woman x

carelesswhispers Sun 06-Sep-09 09:47:13

oh mrsvictor [hugs] i really do hope your appointment tomorrow gives you some good news , x

Casserole Sun 06-Sep-09 10:05:07

Hugs and prayers your way x

busierbee Sun 06-Sep-09 11:36:31

Love
Cry away - it is part of it, part of you. I remember, with my first diagnosis of chromosomal abnormality, that the only people I could share it with were here on mumsnet.
You will get through this. It will shape you, but you will get through it.
BEE

katiecubs Sun 06-Sep-09 15:27:54

Hi Mrs V,
I am going through a very similar thing right now so i really really feel for you. I don't know anything about the condition you mention but my baby was diagnosed with turners which means she only has one X cromosome - unfortunately for me she is so sick there is no hope she will make it so i have made the sad decision to terminate on Monday - so sad.
Please try not to worry and sit tight and wait for your appointment tomorrow (easier said than done i know). There are plenty or ladies out there who have stories of little miricles and i hope that it works out that way for you. I will keep everything crossed. Good luck Katie xx

MRSVICTOR Sun 06-Sep-09 16:35:03

katiecubs you must be in your own private hell, I don't know the right words to use, maybe there aren't any, but my thoughts are with you and your family.
Bee and others, again you've through so much and such wise words.
Today has been okay and I think partly due to this site and your kind words of support. Thank you again Jackie x

HumphreyCobbler Sun 06-Sep-09 19:04:54

Just popped in to see how you are doing. Will be thinking of you tomorrow.

busierbee Sun 06-Sep-09 19:06:10

Katie and Mrsvictor
I hope you are both being comforted and held tight by those who love you - be gentle on yourselves. Katie - we will be here thinking of you tomorrow.
MrsVictor -do talk here if we can help or advise or if you need to rant or sob.
Goodnight ladies
Bee

LongtimeinBrussels Mon 07-Sep-09 12:50:08

katiecubs, I've been keeping an eye out for you as I posted on your other thread. I'm thinking about you today and sending you mumsnet hugs.

peanuthead Mon 07-Sep-09 14:36:17

Just popping by to see how you two are getting on and to send lots of virtual hugs.

Mrs V, glad you found this area - I'm currently finding all the threads on the pregnancy area too trite for words, can't even open it, wish I was still only dealing with morning sickness and an expanding waist - I only wish I'd (and you too) never discovered this bit of Mumsnet. Here's hoping all 3 of us will be back over there with nothing but trivialities to fret over in a few months time. You never know....

Please come back and let us know what the consultant said.

Katie, nothing to say apart from hugs, what a horrible day you're having.

I'm still waiting for the rest of my karyotype results and it's really really getting me down. Just want the whole thing decided one way or the other.

MRSVICTOR Mon 07-Sep-09 19:28:49

and so we are that 1:200,000 couple after all. There was no mistake. Have to say hospital (liverpool womens) were great, they also got us in to see Genetic consultant at Alder Hey, so we've had a full day of it. Seen so many happy pregnant couples blissfully unaware, I was so jealous, they looked at us (me big red face and snotty nose) and must've wondered...
He added no knowledge and in his all his years had only seen 1 case of Penta x. He suspects it my old eggs at fault (they're 41) but so few cases there's no substantial evidence. So I ask trying to be positive "if I have another pregnancy what's the chances".."well you'll be 42 then so Downs, Pateus, Edwards all up there"...ground open up and swallow me now. So we've been sent away to have a think about next steps, I think there can be only 1 decision but will sleep on it.
peanuthead I wish you all the luck on your results. I did think of you today when we questioned her about what we'd had back...I dont know if it will help you but our problem was detected as part of the preliminary findings (PCR) when they saw the unusually high number of X chromosones they performed a FISH. So I guess i'm still waiting on what you're waiting on but there will be no good news coming from that for us. I hope you here a much different story.
katiecubs again thoughts are with you today, you will come back from this.
Jackie x

HumphreyCobbler Mon 07-Sep-09 19:39:25

I am so sorry.

I have had a baby with Patau's so my background risk of having another is high, but my doctor said to think of it like lightning not striking twice in the same place. It might be your old eggs, it might equally just be a freak chance sad. Don't give up hope.

ssd Mon 07-Sep-09 19:44:45

I'm so sorry MrsV

don't know what else to say, just that I'm thinking of you xx

peanuthead Mon 07-Sep-09 20:20:43

Oh Mrsv, life is so so shite.

And I'm with you with the 41 year old eggs, seems so unfair how so many people seem to get away with having lovely healthy babies at our ripe old age yet some of us get the slap in the face.

Thinking of you, wish there was something comforting or wise to say but there isn't. xxxxx

sausagerolemodel Mon 07-Sep-09 20:34:15

Have you seen this site www.tetrasomy.com/. Its a support group for tetra or pentasomy X. There are some gorgeous pictures in the gallery. I think its american based, but they have some people's "stories" of what they went through - it might help? Whatever you decide to do, I send the biggest virtual hugs.

shangrila Tue 08-Sep-09 03:35:14

Hello Mrs Victor

I've read your story and wanted to say that you are very much in my thoughts.

Having had (amongst many other things) a Turners Syndrome affected pregnancy in the past, I had actually heard of Penta X, through extensive and obsessive googling. I'm sure that, after the shock of diagnosis, one of the hardest things to get to grips with must be the very rareness of the condition. I know it must be hard to see a way forward, make decisions for both this pregnancy and indeed the future, when so little is known.

There's no wise words of advice on this - particularly when even medical opinion is so hazy. All you can do is to take the time you need and be gentle with yourself. And talk. This particular corner of mumsnet is fabulous for that and provides a kind and non-judgmental ear for any of your inner thoughts.

Oh, and we are very good at virtual hugs too...

lilysam Tue 08-Sep-09 07:17:01

Mrs Victor - so sorry to read about what you're going through. We had a daughter with Edwards Syndrome and said goodbye at 20 weeks. (I was 32 at the time) and my consultant put it down to a 'dodgy' egg and said to just hope that that was our bad one and no reason to not try again. We were very lucky to then have a successful pregnancy (but very stressful one) and end up with DS. I'm now (terrified) and pg again but at such an early stage so who knows...

We were at Ormskirk hospital, so i guess not too far from you. Know the feeling about being surrounded by the happy pregnant ladies...you must take some time and be gentle on yourself.

Lots of love to you and Katiecubs....it's the strangest and most surreal time i think. It's 2 1/2 years since we lost our DD and i sometimes wonder if it ever happened as my brain can't get round it all somedays.....I found SANDS to be an amazing support if you need them x

lilysam Tue 08-Sep-09 07:19:01

Sorry and to peanuthead - love and thoughts with you also xx

MRSVICTOR Tue 08-Sep-09 08:18:47

Ladies thank you for sharing your stories and your words of support, it is helping. I hadn't heard of any of these conditions before the weekend, wish I could rewind to the pram threads of last week, but no, here we all are.
Emotionally I feel very drained, thankfully work flexible so I'm at home just thinking things through. We've made our decision but now have to go back through everything I've read just to make sure. I keep asking 'but what if' but no one can answer me......
This morning I'm going to have tea/toast and watch Jeremy Kyle...a rare treat!
Thanks for listening ..J x

katiecubs Tue 08-Sep-09 11:14:57

Morning Mrs Victor - i'm so very sad to hear your news. I went through all the 'what if's' too but i think i made the right decision in my case - i just wish it could have been differant. Take your time and make the right decision for YOU. If you want to read my experince i have posted in on this page
Will be thinking of you Katie xxx
P.s Peanuthead i have not seen your specific story but it sounds like you are going through a similar thing.I'm thinking of you too, be stong xxxx

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