genetic counselling - should we 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.

I think if you are ethically against embryo selection then you should go ahead and ttc. I think I would probably go for the counselling myself, just to see if there was anything I had thought of. But if you are happy with your decision, and your reasoning is entirely fair and well thought out - then good luck and start trying.

I hadn't thought of.

wow. That's tough. I haven't experienced anything even remotely similar, but one question pops into my head.

Is there just one cmt gene? Or does your husband carry a milder variant of it?

Is the cmt gene he carries the same as the one his mother carries, and is it just the phenotype, the variable of life and environment that makes it present itself in a milder form??

If your MIL had a good quality of life until she was in her fifties, then I don't think it would be selfish to go ahead without the screening.

Hi pofacesagain - well I think I have ethical issues but maybe I just have issues about delay treatment etc. I am confused and upset!

hi choredodger - the gene my dh has is the same gene. If our child inherits it (which they have a 50% per cent chance of doing so) there is no knowing whether they would get a severe form or a mild form or anything in between and within that there is no way of knowing whether it would be progressive (ie get worse as they got older) or not.

I think if you are confused and upset miniegg then go for the counselling. You have nothing to lose, except maybe a bit of time. And it may confound your expectations. It may just confirm to you that what you want to do it the right way to go. Good luck.

Hi, minieggmonster, my 'verdict' first: I'd go for genetic counselling.

BTW it is not counselling as in touchy-feely make-you-feel-better psychological support; genetic counselling is all about making sure you have the facts and can then go on to make informed decisions.

We had genetic counselling after I'd had 3 consecutive MMCs in my mid 30s. We both had blood tests to check our karyotype and it turns out that I carried a chromosomal condition which on paper gave me a 1:4 chance of conceiving a pregnancy with Trisomie 13 or 14.
This was devestating news. Genetic counselling ensured that we understood the odds, but also told us that in RL nature has a way of 'rejecting' the affected egg cells and that the actual risk was much lower. This gave us the confidence to keep trying.
3 healthy DCs later, I am currently expecting (healthy) DS4....

Your situation is of course v different in that you seem to know what the odds are. Does you DH have siblings that are affected? What about your MIL siblings?
A genetic counsellor would take details of a complete family tree to assess risk in more detail.

I do understand what you are saying that you would want to go ahead with your treatment whatever the outcome and that you are not particularly looking for preimplantation diagnosis of the embryos or possible selective reimplantation (I am not sure that is legal in this country anyway? I think Spain does it maybe??).

Re are you selfish: I do not think so, impatient maybe .
Also disability I think is not the issue - none of us is guaranteed perfect lifelong health no matter how 'perfect' we started out.
In my case, I had dignostic antenatal tests (CVS x3 and amnio x1) because I needed to know before birth what to expect and also as I also wanted the option for an early termination for a baby which was severely affected with conditions that were not compatible with life.

Anyway, I am rambling, sorry.
I would take the opportunity to talk it over with somebody who is very used to discuss these really v difficult and complex things.

Good luck, whatever you decide

Gawd, I am a s l o w typer, sorry!

I'd go for one session and specify that I only wanted to know biological details and details of potential treatments (no fluffy stuff), then tell them to leave me alone to think about it.

I can read scientific papers too but it's always possible that there's something you'd miss because you didn't know the name of the new treatment and so didn't put it into your search engine.

I think you should have the genetic counselling. As already said, it is not touchy feely counselling. You have nothing to lose really by going.

Regardless of your decision to have children, if there is a risk of a child having cmt, (or any other genetic disease) the better informed you are beforehand, the better you will manage.

Given the risk, I think it behooves you to be as responsible as you possibly can be, and refusing genetic counselling could easily be construed as irresponsible under the circumstances.

If you feel that you would be happy to take the risk of having an affected child then I can't see why you would go down the IVF route.Just stick to the iui, but see the counsellors just to make sure you have all the facts.

If you feel you would like to try everything to ensure your child doesn't have CMT (I'm 42 this year, I wouldn't like to think I would be in a wheelchair in 8 years time - my dd would only be 10) then maybe IVF would be a better option.

I know you can't guarantee anything in this life, but at least with IVF you could guarantee your child would not have CMT, be it mild or severe.

What is your worst case scenario?

I've just done a quick bit of googling and excuse me if I am trying to teach you to suck eggs, but:

There are different subgroups of CMT, some of which are passed on by different mechanisms (dominant/recessive). I am sure you know a heck of a lot more about CMT than I do, but I'd certainly need all the advice I could get on this one. Sounds v complex... And there are cell markers etc that can be tested for to assess likely longterm outcome.

I'd go - it's only one hour of your life. At worst you'll learn nothing new.

thanks all so far.

Pacificdogwood - my dh's form is dominant hence the 50/50 chance. My dh is only child. His mum has it and is in wheelchair - started to get bad when she was in late 30s and needed hip replacement. Been in wheelchair since 50s. Her brother has it too but very mild - can hardly tell. my MIL's dad had it - also mild - no need for wheelchair or splints. He was one of ten children and two of the ten had it, though some of the ones without it had children who have it.

tiredlady - worst cases cenario is child is physically disabled from beginning with need for wheelchair. even worse case (from v selfish point of view) is we have no children

If your DH has siblings who seem not affected but they have DCs who are: does that not imply some of his sibs do NOT have the dominant form??
Is there such a thing as a mosaic expression of thses defective genes like there is in Down's?

Can you not go ahead with your treatment and get more genetic advice sorted out as well, without it causing a time delay?

This is making my head hurt...

Hi minie, my dh has a genetic condition that meant that any of our children had a 50/50 chance of inheriting it. Like the condition your dh has, even people in the same family are affected by this in different ways. Some people thought that we were mad to think about having children, they saw it as a 50% chance of our children having a genetic condition.

To cut a long story short, we ended up having genetic couselling when I was about 7 months pg - having genetic counselling obviously didn't change anything for us. We had already made the decision to have children. There was no antenatal testing available for dh's condition anyway. The useful part of the counselling was having easy access (not having to wait 18 months for an appointment) if there was anything that we wanted to discuss.

We went on to have 2 children, one has the genetic condition and one doesn't. Our ds was born first and he is fine. Dd's condition is well managed, but she is affected in different ways to dh. We aren't sure if dd has more problems purely because the doctors know to look for them. Both our dc's can see the genetic counsellor as they get older if they have any questions of their own.

HTH

Thanks all.

My dh is only child pacificdogwood. His mum has a sibling - both are affected. His grandad was one of ten children and two of the ten are affected though more than that are carriers.

Thanks for all your thoughts. I think we may have the counselling separately to fertility issues so we are well informed but given we would prefer not to have ivf if iui will work then we will press on with that anyway. If we end up having ivf then we don;t mind screening embryos because we are already doing ivf. With iui which we will try first there are the same risks as just conceiving naturally and given we wish that had happened we will go ahead anyway if that makes sense.

Thanks again. It is helpful to have comments so I can think things through.