Just been told 50/50 risk of abnormalities and could do with someone to chat to!

[Wombat33]

I'm new in this section of MN. We're trying to conceive our first baby and have just been unexpectedly told that any child I have has a 50/50 chance of being disabled by a genetic abnormality. I'm left totally reeling and struggled to take in what the doctor was saying about doing more tests on me to try to identify the chromosomal abnormality, then possibly doing CVS or amnio on any pregancy or maybe having to rely on the 20 week scan to try to spot any deficiencies and being faced with the decision to terminate.

It's all a long way off and the first step is getting my blood test results in 8-12 weeks time, but it's come as a complete shock and left me feeling very upset and uncertain about the future. No one in RL knows and my DH goes away on business for the next two weeks this afternoon, so I'm just looking for a bit of friendly support. Thank you.

I couldn't not respond to your message, though I don't know how much help I'll be. There are, however, many, many women on here who have been through similarly horrible situations. I myself am 36 weeks' pregnant and have known since 17 weeks that I was 'high risk' for Downs Syndrome. I can certainly offer huge sympathy for what you are going through now as I vividly remember receiving the news and not really knowing how to carry on at all. It's such a unbelievable shock, and so suddenly demands decisions about choices that no one should have to face about their unborn child. My heart goes out to you. All I can say, for reassurance, is that with every hour you adjust to the news and evolve/decide what to do, and how to cope, as a natural process. Don't force decisions. So, so sorry I can't be more reassuring, but I do know that this website and its members have been a huge source of support for me over the past several months-- you've come to a good place. Thinking of you.

Thanks Mainer. I'm feeling a bit calmer already as the hours pass from the initial shock but no doubt it will be swings and roundabouts a bit. I'm now of course thinking of all sorts of questions I should have asked but will save them all up for next time (whenever that might be - one question should have been when do I see you next!). I guess it will be once they have my blood test results, but maybe I'll give the hospital a call and find out.

Hi, sorry you're in such a situation. Have you both been offered genetic counselling - they should be able to help answer more questions.

Hi there, you poor, poor thing, lots of us who have been through this remember what a dreadful and anxious time it can be, especially when you have such a long wait to find out anything certain.

I don't know whether you know about them but if not, it is well worth getting in touch with ARC:

[www.arc-uk.org]

They have a helpline and were super helpful to me.

Take good care of yourself in the meantime and fingers crossed everything will be ok.

This all sounds very odd. Does the doctor have a specific condition in mind because unless she knows which condition you have and the way on which the condition is inherited she can't possibly say 50:50 chance.

What specialism was the doctor? You really need to see a genetic counsellor - or if you have seen one you need one who will explain it better! I'd definitely want a second opinion - it sounds as if you've been landed with a huge shock, with little explanation and an awful lot of assumptions from the doctor.

Thanks for your support and for the recommendation of ARC, I'll take a look at their site.

The doctor was a consultant specialising in genetics. I was born with (relatively mild in my case) limb deficiencies. I have always been told it was 'just one of those things', unexplained and unexplainable and I was at no greater risk of having a disabled child than anyone else.

Out of an abundance of caution, I asked my GP to refer me to the specialist, mainly because I wanted the reassurance of having what I had always been told reconfirmed before we had our first baby.

So you can imagine it knocked me for six when she said she thought what I'd been told before was wrong. Her reasoning was that from what I could tell her it didn't sound like there was an environmental reason for my disability (though that was a bit of a leap as I wasn't able to tell her much about what happened and what my mum ate/did when I was in utero) so therefore it's genetic. The genetic mutation for limb abnormality is only very rarely recessive (ie so both parents would need to carry it for the baby to have a 1 in 4 chance of getting it) so most likely it's dominent. That means that half my eggs will have the faulty gene on the x chromosome and half will be 'normal' but even though my DH's sperm will not have the faulty gene one of my faulty ones is enough to mean the baby would be affected eg a 50% chance with each pregnancy.

remeber to wright down all the qestions you want to ask and take the piece of paer with you at your next appointment. take a pen with you to write a quick answer to each question. this way you'll not forget to ask and not forget the answer as soon as you walk out the door!! good luck

Dear Wombat - it must have been such a shock to be told this, after years of thinking it would be a minor risk. I'm not sure how these things work, but if it were a dominant gene wouldn't there be a chance that others in the gene line would also be affected? ie of all your relatives/forebears, are you the only one affected? Might be worth asking about that. And do speak to ARC, they are very helpful. I hope you get more information soon.

It might also be worth seeing if you get more support/care if you do conceive, in terms of scans etc - then at least you will know what the situation is. I don't know if it is helpful or not to think of it this way, but does looking at your own life and how you've coped help at all? In addition, you would know the strategies you have used to cope and get by and help any child in a similar situation; plus there is always the hope of medical or technical advances in the future. I really hope this doesn't upset or frustrate you, after all I know nothing of what you have had to live through, so I'm just suggesting it in case it is helpful - not to make any judgments. No-one wants to think of their child having to cope with any additional demands or prejudices as they grow up so I can understand your upset about what they might face. Really hope you get more info soon, and support for any future pregnancy.

That's a lot of assumptions on her part though! Is there a variation in how the gene is expressed? For example I was talking to a neurologist about mitochondrial disorder. The way mitochondria are inherited means that all siblings should share the same mitochondria (same as mine - and mitochondria have DNA)). I asked therefore whether that meant if ds1 had a mitochondrial disorder then did that mean that his siblings would also be affected. He said no because expression can differ.

Epigenetics a big growing field as well which can alter expression.

Many conditions are genetic but not necessarily expressed, or only expressed in the presence of other environmental triggers.

Of course she might be right, but it sounds as if she hasn't confirmed the actual mutation (if there is one to be found) yet, so it does seem a bit of a leap to go straight to a simple dominant inheritance patterns. I could understand her saying that if she knew which gene was involved and knew how that was inherited but if she doesn't have that information she's making a lot of potentially scarey assumptions.

Is there any chance of a second opinion? Is she a limb specialist? If so any chance of a genetic counsellor? Ds1 has been referred to a genetic counsellor by his neurologist because although the neurologist has some ideas and thoughts about what might be looked at genetically he has agreed that he really needs to be seen by a genetic counsellor because that's a more specialist role (even though the neruo will be more specialist in whatever condition ds1 might have iyswim).

Thanks Saintlydame - I know you are talking a lot of sense. You are quite right that without knowing exactly the affected gene (and we may never be able to identify it) it's impossible to be certain and either way expression may vary so any affected baby may have much less (or more) severe abnormalities than me.

She is a specialist in dysmorphology - congential malformations - I don't know whether it gets any more specialist than that but I will investigate and I am also trying to find out about a second opinion. The difficulty is that she said she will likely need to do lots of tests - chromosomal analysis, x-rays and scans of me - to narrow down her diagnosis and I'm a little bit paranoid about side-effects etc not to mention the time it all takes and efficiency of seeing two people and going through all the hoops with both of them vs the limited information a second person might be able to give me without repeating the tests. I think I'll see what a second person may be able to say and take it from there.

NumptyMum thanks for this - you are absolutely right that I should be able to use my own experiences to help any affected child, and objectively at least I am, without meaning to sound boastful, a role model for someone living with a congential limb deficiency. Hopefully I would be able to draw on that if necessary. There is of course though the flip-side - while I would never say life with my disability is not a life worth living, it is one thing to raise a child affected by an unexpected disability, it is another to deliberately conceive a child in the [selfish?] desire to have children, knowing there's a high likelihood of that child being disabled with all the stigma and additional challenges that presents. I know that more than 30 years on my mother is still consumed with guilt and berwilderment at the thought my disability might have resulted for 'something she did' however unlikely that is. How would I cope knowing my child's disability was down to me (however powerless I may be to control my own genetics)? Would the child resent me for having it? How would I deal with those in society who would inevitably tell me I was selfish to have children? How would we deal with the pre-natal testing and descisions resulting from that? How would it affect my relationship with my mother if my DH and I were to choose to terminate a baby like me, the disableld baby my mother didn't want either but had no choice to terminate? Will my DH be able to cope? Will he 'blame' me and find it difficult to forgive me? Don't get me wrong, he's a wonderful man - he married me after all, limb issues and all :o) - but there are some experiences so traumatic that even the best people struggle to cope and everyone has their breaking point. I hope we never find ours, but yesterday's news certainly raises the spectre of the biggest challenges either of us, or our relationship, has ever had to face.

These are all rhetorical questions to which I appreciate there is no absolute answer, but it helps to get the thoughts out there rather than whizzing around in my head.

Thank you all for being there and reading my ramblings and offering the support you have. I find it incredibly touching that complete strangers are so kind.

I really feel for you wombat. She does sound very specialist, but I'm struggling to understand her certainty when she hasn't identified a specific mutation iykwim.

Doctors can be very negative sometimes when it comes to disability. I wonder whether this bleak picture is an extension of that. It just seems to odd (and unfair) to present something in such a black and white way when it doesn't sound as if she has the information that would confirm that.

It does sound as though counselling might be a good thing for you and your dh (normal counselling I mean, rather than genetic) as you are right - there are many issues to consider whatever the results of the genetic testing.

I agree. I will investigate counselling today (I'm not getting much work done anyway!).

Looking for the positives, at least we are informmed and can arm (excuse the pun :o) ) ourselves with the necessary information and options ahead of time. If it doesn't become necessary then that will be a huge bonus, if it does then at least we will be prepared.

Thank you all very much for your support. hopefully I'll be able to come back on here as time goes on and have good news to share, or at least some progress and fewer tears!

Good luck wombat. Hope you get some definite (and positive) answers.