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CVS testing for severe genetic condition.

(16 Posts)
LBNM19 Mon 31-Mar-14 18:25:25

I'm awaiting CVS testing as my 2 year old son has a rare genetic condition he can't walk, sit up etc.

We didn't no anything about it when I was pregnant with him and have been through a really hard time he spent 7 months in intensive care. The condition is life limiting.

I am just over 10 weeks pregnant and awaiting CVS testing on the 07/04.

We have a 25% chance of the baby having the same condition and I already no I will have to have an abortion as we won't be able to cope and plus its not fair on the baby.

I've had a date in scan seen baby and heart best and it is very much wanted I no I will be heart broken if we get bad results.

Just wondering if anyone else is in the same situation?

I feel like no one understands what it's like.

bishboschone Mon 31-Mar-14 18:33:03

Hi , I'm not pregnant but I do have a two year old son with a rare genetic condition too . There are a few of us on here . Are you a member if swan ? I just saw your other post and you said you were new so I thought id mention it .

LBNM19 Mon 31-Mar-14 19:37:20

No I'm not but I will have a look thankyou smile

bishboschone Mon 31-Mar-14 20:10:49

Have a look on the Facebook page . There are lots of us there and lots who are pregnant so you may find someone in the same position . Pm me if you want to . smile

LBNM19 Mon 31-Mar-14 20:58:06

Pmd you smile

LuckyAugust Mon 31-Mar-14 21:31:40

I'm so sorry you're going through this. I don't know our odds but we too are more at risk in future pregnancies- our daughter had a very rare chromosome disorder. Very little is known about the condition she had which makes it more frustrating and more scary for trying in the future. My pregnancy ended last month. It won't stop us trying again but when we do I will be a wreck and I'll have to have cvs / harmony testing. Again I'll be forced to make potentially the same decision I had to this time. I really hope everything works out for you. Big hugs x

mb2512cat Tue 01-Apr-14 22:28:35

Hi, I'm very sorry about your son - what a shock it must have been. I'm the carrier of a chromosome condition that so far has had a 90% hit rate. Before the diagnosis, we had a m/c at 6wks and tfmrs at 20wks and 29wks. We were utterly traumatised. We then got the diagnosis of a balanced translocation and went ahead with IVF/PGD. We had three rounds without success. Recently I found myself expecting again, but now we knew what we were facing, we knew our odds were grim. And so it proved. I hope luck is on your side this time, and by the sounds of it, the condition you are trying to avoid is resessive rather than dominant? I wish you all the best, and keep us posted on how it turns out for you.

Chooster Tue 01-Apr-14 22:38:32

We had a similar situation... except my first son was fine but we found the problem when pregnant with my secondson. Scans showed a fluid build up and that he wasnwasn't moving freely. We had a cvs which ironically came back fine. It was only after more scans that it became obvious his joints had fused and the fluid build up was progressively worse. We were told he would never survive so had a termination at 21 weeks.

A postmortem showed he had a very rare condition which would affect 25% of my pregnancies. We took the chance and went on to have 2 more healthy sons and I had a cvs with each one. Thankfully all was well but it was an awful time deciding to go for it and around the tests. We declined genetic counselling but just did a a much research as we could and went into each pregnancy with our eyes open and prepared for a bad outcome. It's a hard hard time and I think at 10 was pregnant, waiting the the test, you are at the worst bit. Once you know what you are dealing with you will feel stronger. Best of luck x

Chooster Tue 01-Apr-14 22:40:08

Sorry for dodgy phone typos... contact me if you want to know more

LBNM19 Wed 02-Apr-14 08:18:49

Luckyaugust that must of been really hard for you sorry to read that. Life's so unfair.

MB2512cat you have been through a horrendous time it's so hard, especially when people can just fall pregnant and not worry about a thing, I didn't realise about app these different genetic condition before I had my son. He's condition is very bad I will inbox you the name of it if you want? Just don't want to put it on here because it is rare and I do lots of fundraising for him so people could figure it out and no one really nos I'm pregnant.

Over the 2 years he's gone from being a 'normal' baby then he's legs stopped working, that was the first sign, then he lost the ability to breath for him self when he was 8 and a half months old. He now has a tracheostomy and is attached to a ventilator. He's become very floppy and lost alot of movement but decpite all he's problems he couldn't be happier he's always smiling and laughing, we adore him. But it is hard.

Chooster, that must of been so hard to do that when you were pregnant, at the moment I feel like a nervous wreck I can't stop crying I just want to no, as its got closer its definitely getting worse. I feel like I won't be able to do this again if the test comes back postive. I didn't think I would find if as tough as I have. Lovley to read that you went on to had more healthy children that's very postive, thankyou xx

CloverHeart Fri 04-Apr-14 13:43:26

Just wanted to offer you some support. No where near what you are going through but waiting to have an Amnio on Monday and I think I can guess which condition (i wont type though) as a family member went through something very similar.

I wish you the very best and hope you have a positive outcome from this thanks

LBNM19 Sat 12-Apr-14 11:19:46

I just wanted to put on a positive post we got our CVS test back yesterday and our baby is healthy not even a carrier we are over the moon and feel very very lucky smile xx

bishboschone Sat 12-Apr-14 13:26:14

That's great x

LuckyAugust Sun 13-Apr-14 22:44:13

Thats fantastic news! So pleased for you smile

Summerwood1 Thu 24-Apr-14 23:36:26

Brilliant,what wonderful news,congratulations,enjoy the pregnancy now!

LBNM19 Sat 26-Apr-14 08:42:02

Thankyou :D

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