Not to want genetic counselling

[minieggmonster]

I am posting this in a few places to get as many responses as possible so apologies if you read this more than once. It's a long post - please bear with me - and please do give me your thoughts, particularly if you have experienced similar but also if you have thoughts even if you haven't experienced this. And if you have had genetic counselling please tell me if you found it helpful. I'm also particularly interested in hearing from people who have disabilities as to what you think we should do.

My dh and I have unexplained infertility - possibly my pcos, possibly his okay but bottom end of average sperm count. My bmi is too high for nhs treatment so we are about to embark on iui possibly with superovultion privately.

My dh's family has a history of a neurological condition called CMT. My dh has it in a very mild and non progressive form - he is a little clumsy and that is it. His mum has it more severely, she has been in a wheelchair since her 50s. The disease does not limit life expectancy or have mental health implications. At its worst it could lead to needing leg irons or using a wheelchair and possibly some associated but controllable pain.

The stats are that our children have a 50/50 chance of getting the disease. There is no way of knowing whether if they get it they will have a progressive or non progressive form or how severe it would be.

The iui clinic would like us to have genetic counselling before having iui. I don't want to. These are my reasons why not

• There is very little that they could tell us that would stop us having children. Even if our children would definitely get it and get it at its most severe form we would go ahead - we think even at its worst people with cmt have a good quality of life and certainly a life that is worth having. Consequently whatever the genetic counsellor told us our actions would be the same.

• If the genetic counsellor told us that we could have ivf and there was a test to pick out the embryos without cmt and only have them I am uncertain we would want to do this. I know fertility treatment is playing god to some extent but I don't really believe in playing god fuirther than that - that is they might decide not to put the cmt embryos back but how do we know the ones they put back don't have another illness that could cause them pain? All life is a bit pot luck like that. (On the other hand if we can have a baby without cmt do we have an obligation to try to do this?)

• I don't like counsellors or counselling. Sorry if this sounds awful. I have no patience for it. What's more, I am intelligent and can read the scientific papers myself - I do not need them to interpret the info for me.

• I can't face another delay. I feel we have been ttc forever and need to start treatment soon.

• If they can select just non cmt embryos then we would have to have ivf rather than iui - this is more invasive and more expensive,

• if we were not having fertility problems then we would not have sought genetic counselling so why have it now just because we are?

So my specific questions:

• what would you do?

• are we being selfish not to want genetic counselling?

• is it terrible to condemn our children into having a 50/50 chance of being disabled to some extent?

Any thoughts/comments welcomed as long as they are not too horrible!

I am a namechange by the way - I don't want friends I have discussed this with to read this then know my user name for other bits of MN.

HI have rare combination of things and once they found no link btw me and ds(2) I stopped as i realised they were looking for thing that had more than an average chance of occuring. Most thing are not anyone's fault you just have to deal with the consequences.

xx

I understand your reasoning. I think YANBU...

Nobody would envy your position OP, and my heart goes out to you.

OP- We sadly had to terminate a pregnancy(another story) and the genetic counselling we received was excellent, so don't dismiss it. Counselling is the wrong word to use, it was two nice experts who answered all our questions and didn't try to influence our decision either way.

If you have any choices to make, the least you can do for your unborn child is to know that you were as well informed as it is possible to be. I know you are well informed already, but it ceratinly won't hurt to see a genetic expert.

Personally, in your shoes,I would avoid any chance of the baby have CMT IF avoidable. However, it is your decision not mine and I would not judge anyone who had your choices in front of them. It must be hard enough already.

Thank you all - lots to think about and it is helpful.

For me the thing is that if we did not have the cmt issue we would be advised to have iui. Iui carries the same risks of passing it on as conceiving naturally which is obviously what we wish we'd been able to do. In fact even though we've always known about the cmt risk we never considered having genetic counselling/testing if we could conceive naturally.

But, if we are going to go the testing route then it's straight to ivf. This is more invasive (and more expensive) and has its own risks.

So it's not a question of to test of not to test but one of to have iui and take our chances or to go straight to ivf and test.

Thank you for all the thoughts and advice though.

Tattycatty - thank you in particular for your post. Our iui appt was at the CRGH which is Paul Serhal's clinic. We didn't see him though but one of his colleagues. Did you get to go and see him straight away? Should I request to see him do you think? How did you find them?

I am not sure what I expected from out appt but I thought given we were paying for it and given they are meant to be leader in their field it was all a but shambolic - 45 mins late for our appt, tatty, slightly offish doctor, pokey waiting room. None of this matters of course in that we are there to have help having a baby not because we want a nice afternoon out - but I came away quite despondent. I thought it would be making to decision to have treatment and have it provately that would be difficult and the rest would be easier but actually I was in utter tears after first appt.

We had genetic counselling when dcs were already 9 and 13 years old

Not emotional counselling, just explaining the facts, why the condition had come out so severely in this particular generation, what the likelihood is of it coming out in the next generation. So not about any decision we might conceivably take, more about what understanding what is going on.

Quite frankly, I am glad that I had no idea when dcs were conceived that I was the carried of a potentially disabling condition, as that might have put me off having children, and with hindsight I think ds and dd, despite being mildly disabled, sometimes needing to use a wheelchair and suffering chronic pain, still have a life that is worth living. I do not feel in any way apologetic for having given birth to them and I wouldn't feel I had to apologise even if I had known what I was doing.

At the same time, if I had only known about a potential disability and not about all the good things they would have in life, then I suppose I might have been put off. So perhaps better not knowing.

Ah, I see that facilities at CRGH have not improved despite moving location since we went there in 2005! I'd have described their old clinic in the same way - bit tatty, a waiting room where you had to fight for a seat and hang around for ages, hoping that nobody minded the fact that you were snotty and snivelling with nerves, fear and excitement! I also remember coming out and saying to DH "hmm, I expected something a bit more luxurious for the money we're paying..." . Looking at it as an outsider now, I guess I'd be pleased that they are ploughing their fees into the actual treatment rather than the surroundings.

We did get to see Paul Serhal at our initial appointment - we didn't specifically request it, but we were referred by my NHS Consultant so he may have made that request on our behalf. In terms of seeing him again, I guess it depends on whether they have started you off on your cycle or whether you are going back in for another "Q and A" type session. After our first consultation, which lasted about 30 minutes, we went straight to the nurse to learn how to do injections and started the IUI cycle that night. At the end of the day, if you are not comfortable with the route that they have chosen for you, ask for another consultation - I can't see any issue from my time there with seeing Mr Serhal. I was amazed when I went in for an emergency scan over the weekend and was greeted by the great man himself who had come in specifically to do it.

In all truth, I found that Paul Serhal and the other doctors could be a little abrupt at time - with a clear mind looking back, they were obviously time poor and I was just one of dozens of women that they were seeing. The nurses were fantastic though - mopped up my tears on many occasions. That being said, when it came down to it, Mr Serhal went into the clinic at weekends to do emergency scans for me and rang me personally with blood results (we were told that DD was not viable based on slow rising HcG levels), and when they finally found a heartbeat at 7 weeks, he practically did a jig around reception with the joy of it!