Anyone here with genetic condition that may pass on?

(16 Posts)
Samedaydifferentusername Sun 27-Apr-14 14:39:16

Briefly, we've had a tough time. First child was born with severe condition that we didn't know about in pregnancy and died in infancy. Hellish, awful time.

We went through a long process to establish genetic testing then got pregnant, had a cvs and found out our next little one was also affected, we decided to terminate.

We had our healthy child 2.5 years ago and she's the light of our lives after all the heartache.

We've started to talk a little about whether we can have another child. I would love my daughter to have a sibling and for us to have another child.

I'm so scared of having another abortion, it was just so awful but I cannot bring another child into the world to die like my first child did.

I know it's only a decision we can make to go ahead but if anyone has any thoughts or experiences I'd much appreciate it.

I suppose I think most about the ethics of getting pregnant knowing there's a 25% chance we will end the pregnancy.

LBNM19 Sun 27-Apr-14 17:58:18

Hi I do, my son is 2 years old and has a condition called SMARD very similar to SMA.

My son is very disabled and requires a breathing machine 24 hours a day he cannot walk/sit up however mentally he is fine and a very happy little boy. I feel your pain the condition is life limiting, although I can't imagine my life without him. He spent 7 months in intensive care last year.

Anyway we are now expecting our 2nd child, luckily the baby us not even a carrier and I'm 14 weeks pregnant.

I had a termination when my son was 7 months as we knew there was something wrong but didn't no what, they were sure it genetic and I couldn't go through with it but we will never no now if the baby was ok or not but was the best decision at the time, it's one of the worst things I've ever had to do.

I had a cvs with this time and was very worried waiting etc, in the end the thought of having a termination was tormenting me to be honest but luckily it didn't come to that.

It is hard, I no how you feel and also understand your want for another child but reservations to.

Pm if you want smile xx

LBNM19 Sun 27-Apr-14 18:00:24

Our odds are also the same 1 in 4 (25% chance of child being effected). X

Samedaydifferentusername Sun 27-Apr-14 18:50:30

Really appreciate you replying, I am just so torn. In some ways I would love another child and I know if we don't try I will always look back and wonder what could have been but I'm scared of another termination.

I think because I've had a termination before it's worse because I never thought I would ever have one, let alone two.

But then I remember that it's a 75% chance it will be ok.

I'm just going round and round in my head over it!

deepinthewoods Sun 27-Apr-14 18:53:12

Could you have IVF with genetic screeing?

VivaLeBeaver Sun 27-Apr-14 19:04:21

What an awful situation for you.

My situation wasnt in any way comparable. I do have a genetic condition which could be passed on and was passed on to dd. but it doesn't sound anywhere near as serious as yours. I'm unaffected by it and thankfully dd is as well thought there was a chance she could have had a more serious form.

My gut feeling is I would try for another child. There's a 75% chance things will be ok. But that's easy for me to say, never having had an abortion.....

For me ethics wouldn't be a consideration to be honest but I realise for some it would be. My main considerations would be quite selfish and based on what I wanted. So if I wanted another child I'd do what needed to be done. Try, and if necessary have another termination and try again.

Sorry, don't think I've been very helpful as I know it can't be that easy.

DisappointedHorse Sun 27-Apr-14 19:08:50

We do but it's not life limiting luckily.

DH is a carrier of Fragile X syndrome and so is DD and SDD. DS is clear due to not inheriting the X chromosome, the most common reason for inherited mental retardation (wording from their web site).

DD and SDD are at risk of passing on the condition, the gene mutates with inheritance and they will have no way of knowing if it's been passed on or mutated unless they have antenatal testing and then potentially a tough choice to make.

They can have IVF with genetic screening apparently.

Even though they're only carriers there are conditions that come with it. Male carriers usually end up up with FTAXS in later life, a Parkinsons like tremor disorder. Female carriers are at risk of premature ovarian failure.

I wish we didn't have it but I'm glad we know about it in advance.

Samedaydifferentusername Sun 27-Apr-14 19:27:27

Thanks so much for the replies.

Ivf and pgd is available to us but because we have a child it would not be available on NHS and it is just too expensive for us I think. I have made an appointment with our genetics counsellor so may ask again but I think it's in the region of £10-£12k and my consultant said the success rate was the same as infertile couples, I think about 20%?

I really appreciate speaking to people in similar situations.

LBNM19 Sun 27-Apr-14 20:40:12

Samedaydiferent user name, you defiantly have a good chance of a healthy baby I no so many peo

LBNM19 Sun 27-Apr-14 20:40:23

Message withdrawn at poster's request.

LBNM19 Sun 27-Apr-14 20:43:14

Sorry keep Accidentally posting :@ I no lots of people that have had good news with a 1 in 4 chance.

Remember you've got a 75% chance of good news although I don't no if I could do it again.

You are right about the pre genetic diagnosis IVF, you've more chance of falling pregnant naturally and having a healthy baby but obviously you then risk having a termination xx

Sameday, our situation is not at all the same as the genetic problem I have (and one of our DSs has) is not at all life-limiting and does not affect our own health, but I had a 1:4 chance of conceiving a child with a complex condition not compatible with life (DS3 and I are carriers, as is my mum as we now know, but nobody in the family is affected that we know of. Although one of my maternal great-grandmother had a great number of MCs which makes me wonder….).

Anyhow, it was the 1:4 risk that caught my eye: I had 3 MCs (ironically none of them connected with my particular problem) and was encouraged to continue trying to conceive by my obstetrician/Professor in Fetal Medicine and the Geneticists. Their reasoning was that an affected egg was far less likely to successfully become fertilised and even if fertilised would likely stop growing very early on (likely before I even realised I was pregnant).
As I knew beyond a shadow of a doubt that I would have had a termination for an affected pregnancy, that made it easier for me.

So, with a risk of 1:4, we have 4 healthy boys, one of which is a carrier like me, but healthy himself.
IMO, it is worth the gamble and a gamble it is; I am sure I might feel far less confident if I had been through what you've been through thanks.

I hope it will all work out for you.

maggiethemagpie Wed 30-Apr-14 20:56:22

Yes, I have a genetic/monogenic form of diabetes. It doesn't manifest until adolescence. Either of my children could have it, I won't know until they are older and they can't test for it.
As it's clearly not life threatening, just a major pain the backside to live with, it didn't stop me from wanting to have children.

winnie1981 Sun 01-Jun-14 20:32:34

Hi sameday,

We are in a very similar situation to you. Both myself and dh are carriers of a fatal syndrome. We had a little boy in 2004 who sadly died in 2007 (2y 9m). He had severe disabilites and couldn't do much at all. We were lucky to get some smiles tho!
We were told following his post mortem about the rare syndrome.
We have 1 in 4 chance each pregnancy too.
We have a little girl who is 20months and we are just going to start ttc #3!
I am worried but I don't want dd to grow up an 'only' child. If we are successful we are lucky enough to have pre natal testing.
Fortunately we haven't had to terminate any pregnancy bit if we were faced with positive results we would definitely choose that over bringing a severely disabled child into this world again x

Hope your ok x

Samedaydifferentusername Sun 29-Jun-14 23:12:42

Hi Winnie

Thanks for the reply and I'm so sorry for the loss of your precious son, it changes the world doesn't it.

We have decided to go for it (I think) but in the early days of no contraception. It just feels like I'm stepping of a cliff into the unknown.

Wishing you all the very best.

winnie1981 Tue 01-Jul-14 19:25:43

That's great news, I think it's always important to consider all options and then make your decision!

Well good luck with your ttc and may catch you on another thread!!

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