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.

bumping for you. My dh and his ex wife had 4 children-2 with CF and 2 without. I'm not sure I would have planned successive pregnancies knowing the odds they had, but they did and they dont regret it. Their children had short but enjoyable lives and their siblings, having the same odds with their potential children dont feel the need for genetic counselling or testing. I also have a son with a rare genetic disorder but of a more random nature-I have friends who have 2 and 3 children with familial form of the syndrome and they dont regret anything either. It just makes the parents lives a bit harder best wishes with whatever happens. x

Hi minnieggmonster

Do you know which subset of CMT you have in the family? There are quite a number, and as you are aware, prognosis is variable.

My DD1 has an unidentified genetic condition, and she was diagnosed when I was pregnant with DD3. We had genetic counselling, but made it clear that we did not want any invasive testing of any sort (including CVS or amnio). What we did accept was additional ultrasound scans, although to be fair we would have had those anyway given our history of IUGR.

One thing that has comforted me in facing DD1's condition, is knowing that every guideline given to pregnant mothers, I followed. I know that her brain is not malformed because I had a glass of wine (I didn't) or ate Pate (I didn't) or had a rare steak (my favourite I didn't), etc.

That is not to say that I think women that do these things bring anything on themselves, because statistically the odds are very low, and even then it is hard to establish casaul effect.

But I know what I am like, and I know that I would be wondering if that steak caused her brain malformation.

I think you should at least go for genetic counselling. Not for any other reason than if it turns out that your children have severe CMT, you will know that you made a fully informed decision, and will have no doubt in your mind.

Hi mem, trust your feelings.
If your mind is made up on going ahead with ttc, then waiting for genetic counselling it's likely to slow you down or possibly discourage with going ahead.
I wouldn't pin too much hope on getting much out of gc, that is my personal experience. When my ds was born with a genetic condition, we were referred for gc but found out nothing over and above what we already knew. They told us 1 in 4 risk of next child having it too - which we already knew - and took details of family history for THEIR files. No mention of any tests - unless we wanted pre-natal tests for next child and they wouldn't have been done by them anyway. In a nutshell, it was almost like the advice not to go ahead to have more children if we couldn't face the risk.
As it happened we just couldn't face putting another child in the same situation anyway and/or the heartbreak of testing and waiting and concentrated on the child we already had.

There is so much variability in the genes that it's never black and white and no guarantees that a completely new condition doesn't appear. Retrospectively, as we also had some difficulties in conceiving, it made me think that it wasn't meant to be for a reason.

I would just go ahead if that's how you feel. Life taught me to stop being a control freak and have it all planned and perfect, becuase it just doens't work that way.
Good luck, it will work out the way it's meant to.

Thank you both for comments - it is really helpful.

x

Have answered this on other thread. To put it again briefly:

both dcs have inherited a condition which has left them with chronic pain and intermittent disability

I am personally glad that I did not know this at the time of conception as I might have been frightened out of having them

I still think their lives are worth having, and I know they would agree

Having said this, we did go for genetic counselling last year (when dcs were already 9 and 13), just to make a bit more sense of the whole situation. It was very good and helpful.

Hi, talk about resonance with someone else's exp...!! We had fert probs, and my bmi would hae been too high for NHS IVF, (clomid worked for us in the end tho).My husband has CMT (X linked) so boys would not have, or pass on, girls would have (but likely less impact than him),we felt same as you, didn't have any testing through pregnancy as it wouldn't have changed anything.

DH did have a GP who thought it was wrong to have kids becasue we would be bringing disabled child into the world, (good job i never met her!!)

But medical ignorance prejudice is nothing new eh?

As it happens our son who doesn't have CMT does has mod LD and possible ASD, so that is difficult for husband because of the chronic fatigue/pain he gets, and because he can't run after him! But we manage, and your DH's CMT sounds different. Basically, for us the decision was about our feeling that DH even tho he is now retired from work at mid 30's and needs quite a bit support from me is much much more than a set of problems, he is good bloke, reliable, loving husband, great friend, smart, funny etc etc.

If it would be useful to talk to us, (DH to DH maybe?) then please give contact email and we woulo be happy to.

Good luck with IVF

Thank you signandsay. I don't think my dh would want to do that but hugely appreciate the offer.

I think I am scared genetic counsellors or anyone will tell us not to have children at all rather than have disabled ones. Am horrified your dh's go did this. Also am interested your non cmt son had other difficulties (and v sorry to hear about this) as one of my things is that if we did select non cmt babies then there are still plenty of other less than perfect attributes the children can have (my fat gene perhaps, my inability to add up etc etc) so why select one over another.

Think we will go for iui before ivf if we are not selecting as that is what was being suggested before all the cmt stuff.

x

No probs, offer still stands, if you want to in future come here and and post for me and I will give you my contact info.
As for other's opinions only way I know to challenge that one, (apart from hitting them, tempting, but not consructive )is to ask why they think that? do they feel the child's value and worth is defined only by their disability? what happens if a child becomes disabled should they be put down????

As for DS, it did throw me slightly, as we were so geared up for PD, then to get child with LD.... Ah well, life has no guarantees eh?

Think there are def issues for DH in relation to his feelings about his ability to parent child with SN, but we work it out day by day, just the same as other parents.