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.

my sister has CMT, will come back and post more fully when kids are in bed

but basically I think yabu to refuse to even see the genetic counsellor (who is not a box-of-tissues type 'counsellor' btw) without being in possession of all the informnation.

personally, I think i would have it and pick embryos that do not have the condition if that is an option. Doing this is not going to increase the chances of them having another condition, so why not give them the best chance possible of not having a condition that could cause them pain?

How much delay are you looking at if you have this? I don't know anyone who has had genetic counselling, but is it really like 'counselling'? You seem to have thought it through and made your mind up so could you just give your opinions and have whatever tests are involved it shouldn't take long.

That said if you both really don't want to do it, then don't. As you say, without the iui it wouldn't be an issue anyway.

good luck

Thank you both. I don;t know how much of a delay privetdancer though we are going to find out.

Mrsbadger - would love to know what you think and what your sister does. Is she your biological sister and if so does that mean you carry the gene too in which case is genetic counselling something you would have?

I think its worth considering counselling- although if you've said that there is nothing they could say that would stop you from going ahead with a pregnancy then could it be done at the same time?

The counselling may be useful in terms of helping you prepare for how life would be with a child with this condition.

DS has a very common genetic condition and if/when the time comes for him to think about starting a family we will certainly be encouraging him to undergo counselling to prepare him fully for what life may hold in store.

Goodluck

i think if i were in your position i would have the counselling.

no-one wants to see their child ill. I know people who have decided not to have any/any more children in case they pass on hereditary conditions.

I think if I had a chance to have children and know that they wouldn't suffer from a condition that could leave them wheelchair bound and in pain then I would do it.

I think it would be a good idea to see the genetic counsellor, just so you have as much information as possible.

The condition itself doesn't sound that bad although I am sure nobody would chose to have it. I also don't want to trivialise it.

I think if I was going to have IVF anyway I would have the testing because you have the opportunity to have a child free of the condition. If all of the embryos came back positive I would still have them implanted because I then would not have the choice of a 'healthy' one without more fertility treatment. The point of the treatment is to have a baby not screen out disease.

If the fertility treatment you need is iui and the embryo never leaves your body (is that right?) and therefore you don't have the opportunity to test. I would stick with that (I think, its hard) and hope for the best as you would if you conceived naturally.
If it was for a more serious condition I would go the extra step though.

Isn't it the case that 'counselling' in this sense just means looking at the facts and reviewing the options with the relevant professionals? It's not 'tell me about your childhood' type counselling.

If you really don't want it then obviously the choice is yours, but be sure you know exactly what it is you're choosing not to learn about.

I cannot see the harm in seeing the genetic counsellor. I think you need all the help you can get in making reasoned decisions. I have read about CMT relating to someone I know and I do know that some people can suffer severe pain. I know people can be so desperate to have a child but just talking cannot do any harm can it?

Genetic counselling is not so much emotional support (which I completely understand you not wanting nor needing) but more a component of informed consent. It could end up being a very quick appointment where they establish that you have thought it all through. I think with your husband's family history this would have been recommended by your GP anyway if you fell pregnant and isn't a punishment for needing assistance.

I would go, they won't try to force you to do anything you do not want to but is it really that bad to get all the information you can and have a more direct line to the medical team. I would assume that they want to discuss the practicalities of looking after a child with the condition as well, especially if your husband is affected and you are not in perfect health (BMI mentioned). I don't know if it is a condition they can test for in childhood but you will not be able to test for it without undergoing the counselling then.

It is not selfish not to want something, but it is selfish to miss anything that might be important to your child because you wanted to avoid half and hour of conversation beforehand. The time you have spent talking to friends and on here probably adds up to more than just getting on and having it. There is hardly ever any delay for these services as often they are in direct response to the 19wk scan or a Huntington's diagnosis. I was seen 2 days after my mum was diagnosed with haemochromotosis.

I would personally only choose embryo selection if I was having IVF anyway. Yes, it doesn't guarantee there won't be something else wrong but having CMT hardly prevents the embryo from having that something else wrong as well.

DH is a haemophiliac and we were offered genetic counselling. We refused on the basis that we knew what the odds were of having a child with haemophilia (minute) and not worth worrying about so refused.

DD is a carrier as was always going to be the case, and she can decide when the time comes whether to have ivf or not. She's only 2 atm though so a way to go.

Interestingly SIL (DH's sister) is a carrier and is currently pregnant naturally. The baby is a girl but they'd already decided not to go through ivf to avoid the haemophilia.

If we're playing 'what would you do?' then if I were having IVF anyway I would 100% do embryo selection while I was at it.

www.timesonline.co.uk/tol/news/science/eureka/article7040873.ece

If you have a choice of having a child who will probably be healthy or one who stands a significant chance of having a disability, I think it is only fair to choose the genetic counselling.

If you don't choose IVF and you do have a child with the disability, will you feel guilty?

I would definately have the embryo selection.

I was offered this after we discovered ds had a serious renal condition, (it runs in the family) we are a very large Irish extended family and I only found this out afterwards I would love to have known coz our ds nearly died. Anyway I went for the first part of the screening and what do you know a scan showed an abnormal left kidney and explained all the horrendous kidney infections I had endured in the past, (real tropical fever sweats dt's and vomiting type bugs ) that were often confused with other bugs. I also took a lot of MDMA recreationally in my youth which If I had known about my dodgy kidney I would have avoided as I was really really dicing with death. Knowledge is power and I was told that if we went on to have another dc I would be spending a lot of time in Hospital strapped to monitors whilst pg. We told them we were not going to have any more dc's as we have 3. But I really would have liked to have known these things and therefore think genetic screening can be almost lifesaving.

I would go for counselling & if possible consider IVF with screening.

TBH I am that you are not doing all you can to have a child without this condition.

I have CMT, as do 3 of my 4 children. To be honest only one of them has noticeable minor problems and they are all fit and healthy.

BUT if i were having my kids now I would go for IVF and embryo selection and will encourage my kids to do the same.

CMT is progressive and now I'm in my forties it does limit what I can do, which is a real downer.

There is no pain on this earth like watching your kid struggle to do something others would take for granted.

I think you would be wise to at least go to a meeting about it and show willing, but I do understand your pain and desperation to go ahead no matter what. Good luck with your treatment, fingers crossed for you.

I think talking about it with a counsellor might help you answer some of the questions you are posing in the OP, many of which you don't have answers to, such as what are the risks of IVF vs what you are already having (in terms of risk of disability) or whether you would be interested in embryo selection or not. It seems to me that you haven't actually decided against any of these things, personally I'd find out all the options and then make some decisions. It may be as you find out more, it makes you more certain yours is the right path but at least you dared to look at the alternative. I think you know people with CMT can have a good quality of life and you won't suddenly forget that if you do go for counselling, it's just about seeing what the options are before shutting the door entirely. You won't get pushed into IVF and you would have to weigh the (not imaginary) risks of IVF against the desire to prevent something else.

Yes, she is my biological sister but she has a spontaneous, not an inherited, mutation in the gene (her consultant was very excited), so I'm not a carrier.

She has a mild form, but it is progressing. She had to give up the ballet and gymnastics she loved, will never play sport again, has had three serious (and painful) operations to correct the damage, wears a leg brace and knows it will continue to get worse.

She doesn't have children yet but is absolutely certain that if/when she does she will take any genetic counselling offered.
She hasn't made a decision re embryo selection but I think that if she was having IVF anyway she would consider it very seriously to avoid her children having the same problems she had.

On her diagnosis as a teenager her consultant told her she'd be in a wheelchair by the time she graduated and, although she proved him wrong, she swore no child of hers would have to hear that if she could help it.

So in this light I think yabu to put your personal inclinations before the health of your child.

If you are having IVF treatment and the embryos are screened anyway then to eradicate CMT from your genetic line would be imo a great advance and benefit to your children and future generations.

Your decision, your choice. Being a parent involves accepting the child completely, not just a "perfect" child, imho. But again, that IS just my opinion. I do not think you are selfish btw.

It is about accepting children as they are.

But if you have a chance not to pass something on why would you not take it?

How do you tell a child that they needn´t be going through what they are but you couldn´t/wouldn´t wait for counselling/a different procedure?

As somebody who battled infertility and refused all screening tests when I finally got pregnant, I can understand the desire to have a child "come what may". By no means the same as CMT, but I have an inherited blood condition (I'm the first person in my family to discover that I have it), and it would never have entered my head to see that as an obstacle to starting a family. My daughter will be screened for it when she is older, as it will impact on her contraceptive and lifestyle choices when she is older, to prevent DVTs and all the possible consequences.

I guess the first thing you need to do before looking into genetic counselling any further is to discover whether or not there is a pre-implantation genetic screen available for CMT. PGD (pre implantation genetic diagnosis) is very much in it's infancy), and whilst they have made great progress I don't think that tests are available for all inherited conditions. Paul Serhal at UCH is one of the leading UK consultants in this field (he's also the wonderful man that helped me conceive my DD through IUI), so worth doing some research before you make any further decisions. People often confuse IUI with IVF under the umbrella of "fertility treatment" and there is an assumption that you will go straight to IVF and have all the answers at your fingertips - sadly not the case.

As TattyCatty said, PGD (screening of IVF embryos for genetic defects) although technically possible, is still rarely available. Most people who know they have a risk of a baby with a genetic problem have to rely on no testing, or testing during pregnancy (amniocentesis or chorionic villus sampling) and the choice of terminating affected fetuses.
I also agree with those that have mentioned that Genetic 'counselling' is not 'counselling', it is a discussion where different choices can be discussed (like whether PGD is possible for CMT).
If the iui clinic want you to have the genetic counselling (so they can tick a box to say that you are fully informed of your options) then I would grit my teeth and bear it. No one should try to force you into any sort of testing if you are fully informed and decide you don't want it.

Like you, I am quite cable of reading the scientific papers but would go for counselling and ask as many well informed questions as I could. More especially if it were possible to test for this disease shortly after fertilisation of the egg before implantation if you were undergoing IVF.

I do not know if there is such a way of testing but if you could select an embryo that did not have the condition you would be saving your children and possibly every child in every generation after that from a life of discomfort and inconvenience. That is a heavy responsibility to bear but going to the counselling sessions would at least leave you with the peace of mind of knowing you had done all you could.

I am not saying you should not have a baby but if there is anything that can be done surely it is worth exploring it by going to a few meetings.

OP, are they offering genetic counselling with a view to screening the embryos? That's what I was basing my reply on since what otherwise would be the point?

Unfortunately it's not available for the condition I potentially carry (screening has come to a halt as surviving relative doesn't want to be screened) and it has implications for dd as she gets older. If screening were available at the embryo stage we would have had it.