genetic counselling - would you have it?

[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 miniegg

It really sounds like deep down you have already made a decision and I think that the most important thing is that you and DH are in agreement and prepared to deal with whatever comes your way.

I wouldn't go down the road of judging you or the ethics of fertility treatment etc as these are very personal decisions. What I would say is why not go through the motions just to satisfy the medics? It can't do any harm can it?

Good luck

Hi

I had genetic councelling when my son was diagnosed with TSC. This is a genetic mutation on the TSC2 gene.

My son't father and i were both tested and found not to have the mutation.

They pretty much explained all the implications of TSC to us and that any other children we had would have a 2% of having TSC. Like CMT it is very variable and no two people are the same. Unfortunately my son has a lot of features of it as well as autism and adhd.

It took 6 months to locate my son's mutation, then 2 weeks to check if either of us had it. They also informed me that should I have any other children i can have a test at 11 weeks of pregnancy, very similar to an amniocentesis. Although it does come with a risk of miscarriage. This test could tell me if my child has the same mutation.

You'll have to forgive me, I'm not clued up on CMT. Is there a specific mutation on a gene? and if there is has your partner had his identified?

I agree with the previous poster it is your personal choice and although you do sound like you have made your decision, I don't think it would hurt to have the councelling.

Hi Miniegg
I agree with TeaFan - you sounds like you have made your decision and for good reasons. However it will do no harm to go through the motions, perhaps stressing that while you do that you don't want your treatment to be delayed? Also what if you looked back at some point in the future and wondered what would have happened if you did?
My DH and I had genetic counselling experience but for different reasons - this is a few years ago now between our DS & DD, we discovered at our 12 week scan our baby had Turners Syndrome which is a genetic abnormality. We decided to terminate in the end, mainly as the baby was showing other serious problems and it was likely not to survive. We saw two genetic counsellers a few times if I remember - before our decision, but then also to talk about future pregnancies and choices. Turners is an unlucky fluke so it was going through the motions really since they say it would not likely happen again.
The reason I wanted to respond though was to say that we were just talking to the medical staff - not therapists. It was a genetics Consultant and one other. Have you asked who you would be seeing as I would remember what they are calling genetic "counselling" may not be seeing therapists like the term would imply, but just chatting to the professionals like we did?
Probably not been very helpful but thought I would put my two pennies worth in. Hope you get some other responses and good luck.

Thank you all - really helpful to have things to think about and to know what others think.
xx