To have children and pass down a genetic disorder?

[killagorilla]

I have Factor V Leiden, it's a blood clotting disorder and is passed down from parent to child. I have it as does my siblings and every family member on my maternal grandfather's side.
It is quite a serious disorder and I have had one blood clot in my lung, all my family are on a low dosage of warfarin/heparin/aspirin to minimise the chances of blood clots.
I have 2 kids and they both have it as well. I was with a friend from university today and her kids and she was asking about it. When she found out that it is passed down from parent to child she got a bit shitty with me.
She said that she would never have kids knowing that they would have it and it could mean injecting yourself regularly and not being able to live a normal life.

I've been thinking about it and now I feel a bit because I look at my kids and can't imagine life without them. But maybe I was selfish to have children knowing they would have something that has caused me so many health problems.

What do you guys think?

Lucyellensmum: "I disagree with you hackmum. The guy decided not to have the test to see if he was a carrier. Are you suggesting he shouldn't have had children? Or are you suggesting he should have worried those children with the information? Because one might argue, with a condition such as huntingtons that ignorance is bliss (he chose not to know but it must always be there in the back of his mind)."

Perhaps I didn't make it clear. He didn't tell the mothers of his children that he might have Huntington's. So they were not in a position to make their own decision about whether to have children with him or not.

Of course he should have had the test - it's irresponsible not to. And if the test had showed that he had the gene for the disease, then in my view he shouldn't have had children. There are Huntington's sufferers who do make this difficult decision. I think these days maybe it's possible to go down the IVF route and genetically test the embryos before implantation but am not at all sure about this. I guess that would be an acceptable alternative.

I have first hand experience of Huntingtons. Do you hackmum? If not, you have no right to judge until you're quite sure you know ALL the facts. I don't have it but there are those in my dh's family that do.

Ah bless you Thumbwitch thank you.

In all but the darkest of moments l believe something will come up with all the amazing research and medical advances going on and that she will live to be 100. She is 11yrs old btw and the medical people are very happy with her so far. As am sure you are aware as you sound very knowledgeable on this is crucial to minimise the damage to her lungs as much as possible for as long as possible.

This is something that we have been discussing a lot this week within my family as it looks like my aunt and cousin have inherited a type of dystrophy and now my mum and her other siblings are being tested. If mum doesn't have it then I'm in the clear too but if she does then I'll also have to be tested.

If it turns out that we do have it (would be the adult onset version of it) then I will not have any more children. The disorder is more serious with each passing generation (especially if inherited through the mother) and I have decided that I am not prepared to take the chance of passing it on.

I am lucky that we already have two children born before we knew that we had in the family. My cousin is badly affected by it. It presents like very low-functioning autism, muscle wasting and problems with the heart. Thankfully neither mum, myself or my dc's show any symptoms so the chances are that we are not affected.

'it is crucial'

I think your friend is being a bit judgemental to be honest.

I would say that if you have ever thought 'I wish I had never been born', then perhaps you should have thought twice about having children, but if not and if your life gives you fulfilment in spite of this trouble, then I think it's irrelevent.

Your friend is being a complete tit.

I have Factor V Leiden (heterozygote) and my consultant said it's really common in the population but most people never know they have it. I was only diagnosed after a miscarriage and had anti-coagulant injections through both my successful pregnancies to ensure I carried to term. It's just not that big a deal.

The problem with all of this is that when specific examples are used they don't apply to every genetic condition - there's way too much variation to generalise enough to say ANYONE with a genetic condition shouldn't have kids.

Even with the same condistion, some CAN occasionally be significant but aren't always, or can be significant if they go untreated, or if mixed with other risk factors.

We are all going to die. Everyones child will die at some point. If a condition shortens life by 20 or 30 years why does that mean anything?

It's only a very very few conditions where the person would be dead before they're out of childhood having suffered a terrible pain-filled life.

Actually am interested in the OP's statement that this has been in her family for 70 years; only really because Factor V Leiden was only discovered in 1994 - so I still wonder if there is another clotting (or natural anticoagulant) factor involved in her family as well.

I think you 'friend' is an arse.

My DC's have a 1 in 4 chance of any child they have getting the condition they have.

When they are older, I'll explain the odds. It'll be up to them.

your not you

I agree with you bumperella that there is so much variation of genetic conditions but I think it is up to the parents to decide. I personally have decided that I wouldn't risk it if I am found to be carrying the gene. The potential problems with the disease that I may pass on is anything from death within the first few days to reduced life expectancy, severe autism and muscle wasting. Equally a sufferer could just have slight muscle wasting and excessive tiredness.

For me, the variable presentations of the illness is a risk that I couldn't take. Other people may be happy to risk all these outcomes. I know that I couldn't/ wouldn't.

"I have first hand experience of Huntingtons. Do you hackmum? If not, you have no right to judge until you're quite sure you know ALL the facts."

Nope, I don't have first hand experience. Are we only allowed to have opinions now on stuff we have first hand experience of? That would pretty much do away with our parliamentary system altogether.

Not sure what you mean by ALL the facts. I do know that both this man's first wife and second wife were very upset when they found out that he hadn't told them he might be a carrier for Huntgington's.

I also have Factor V Leiden. Mine wasn't discovered until I was 38 and had already had a child. My father has it. I don't know about my mother.

As I managed to get to the age of 38 after many years of smoking, taking the pill and being generally unfit - I am not overly worried about it. I had a DVT - at 38 - as did smoke and was taking the pill. Took warfarin for 6 months - now on nothing.

I don't plan on having any more children now - as am 44 - but I doubt it would have prevented me doing so. It isn't so bad a condition to handle.

YANBU. Your friend was very insensitive - and i hope that by now she has reconsidered her statement, and realised that it has upset you.

"tbh, diddl, you often wouldn't know you had until you did. "

I got the impression from the OP that she knew she would pass it on- "But maybe I was selfish to have children knowing they would have something that has caused me so many health problems."

I don´t think I would have done it.

hackmum You make some interesting points, i'm not sure how i feel about it to be honest. It highlights a whole miriad of issues surrounding genetic testing.
Genetics is a real hot bed right now, with the genome sequenced and functions for genes being identified daily, along with mutations which cause heritable conditions, and predispose people to diseases such as cancer. My "profession" is in this area and it does make me uncomfortable.

You are of the opinion that someone who knows they have a life limiting disease or knows that they may or may not carry the condition, has a responsibility to get tested and inform anyone he may have children with that he has the condition. I understand that. But what if there wasn't a test for huntingtons? Then this guy would be in no different position to where he is now. Having done a brief google to remind myself, it would seem that there are varying levels of what is a horrendous disease. But one that sufferrers can live a full an normal life up until the age of about 34-45 when the disease usually manifests, then it is pretty fucking grim.

Maybe this guy would rather not know, maybe he would rather live his life wiht his head in the sand (fuck it, who can blame him) rather than have that knowledge hanging over him like a sword of damocles. I think that is his right actually. OK, you could argue that if he was tested and he was clear he could forget about it, but he just may not be able to cope with the knowledge if he KNEW that he was going to develop huntingtons. So tht is why i disagree with you, on that aspect.

As to whether or not he informed his partners - i dont know. If he told them, they may have decided not to have children with him. Is he selfish for wanting children? isnt that what we are here for? to have chldren, the urge to have children runs deep. So, you could argue, well then he could have a test and then if he is not a carrier, its all good, but what if he is? what then? should he not have children based on a 50/50 chance that they might be affected? So then it raises the question of genetic testing, he could then make the decision to have any embryos screened for the condition (this smacks of eugenics to me) and then what if you are acarrying a child that you know will develop the disease, then what do you do? Do you have an abortion? Because i am fundamentally anti-abortion ( i know this isnt the debate here) and this would mean doing something that goes against my beliefts, but knowing that child WILL go on to have a degenerative disease (now my father had alzhiemers and it is a living hell, so comparable to huntingtons in a way) in thirty or fourty years time. THAt is a LONG time - as i said earlier, genetics is yeilding so much these days in terms of information about mutations etc, this WILL lead to therapies and even cures. Who's to say that they wont find a cure for huntingtons, or at least a therapy to significantly delay the onset of the condition. Should i deny those human beings that chance, and even if this doesnt happen, they will still have a prognosis of 30-40 years of good health. No one can garuntee that for anyone, my counsin lost two sons, one was 21, he had cancer, the other a few years later in a road accident :( We just don't have a crystal ball.

For some people, knowledge is power, for others ignorance is bliss.

I don't mean to single you out hackmum but i think you have presented a side of the "argument" that is of great interest to me.

Personally, i am not sure i would want to know if i was going to develop a disease later in life, im erring on the side of ignorance, but the flip side of that is that lack of knowledge prevents me taking action which may influence the outcome.

It is a very difficult, emotive and interesting debate.

I have had a DVT but do not have factor v leiden - However the rest of my family have factor v leiden (tested because of my DVT) but have not had any clots. It has only ever been a problem during pregnancy where we have to inject with Clexane / heparin / warfrin (Spelling !!!) - and the fact that we all can not go on the combined pill.

factor v leiden is extremely common and it never occurred to me not to have children because of it.

Your friend is BVVVU (and stupid!)

I have a condition called prothrombin 20210 which is similar to but less serious than fvl. Only found out about it when I had a blood clot after giving birth to my first child. No doctor EVER suggested that I didn't have more children but gave good advice (which worked) to avoid similar problems with future pregnancies.

Turns out my sister has different but more serious blood clotting condition which has resulted in many miscarriages but no DVT. Again this wasn't discovered until the damage had been done.

I will have my children tested when they are older so that hopefully they can avoid any ill effects ever occurring.

YANBU

Wheeliebin yes it certainly is
would be very interested to hear from you.... dm?

lucyellensmum - embryos are screened prior to implantation, abortion isn't involved.

lucyellensmum - embryos are screened prior to implantation, abortion isn't involved.

The issue I have with screaning embryos is that some of the things that we screan out will have at one stage been benificial to the person, factor 5 for example was probably a good thing when we lived basic lives with lots of hunting and fighting, the ability to have blood clot easilly could well save the life of a hunter if they were cut. In those times we probably led more active lives, there were no long distance flights, no hormonal contraceptives, no operations people didn't live long enough to get to old age where the factor 5 will effect them. It feels wrong to me to design humans that suit our life now, what about when the world changes?

Another thing that they could possibly design out in the future is dyslexia, I am dyslexic as is members of my DP's family. It is sometimes hard to deal with the different way I see things, but I relaly feel like it has benifits to it, so many amazing people have been dyslexic. If I was given the choice would I choose for my DC to be born dyslexic? No I probably would choose for them to have normal learning skills. But having said that if that choice had been available for the last 1000 years we would have missed out on so many amazing inventions. On a day to day level I sometimes notice the advantage of my dyslexia, I see things much more in colours and shapes than the average person, we often go out mushroom picking, it can be really hard to spot the yellow/brown mushroom amoung the fallen leaves but I see shape and a specific colour so much better than my DP, where as he sees yellow I see the exact shade. It's not a huge advantage and not a very important situation but it does show that maybe some of these genes that are inconveinient in our modern life could be usefull to use now and in the future.

Maybe instead of talking about engineering "perfect" babies we should concentrate on celebrating difference and treating the problems that our modern life causes.

Some diseses I do think it is right to screan for, painfull and debilitating things, but I also think a lot of what we think of as a disadvantage could be turned around and looked at as an advantage.

good point spoons! Honeytea - that is interesting about dyslexia. I would hope that people would never be screening embryos for conditions such as dyslexia, however i can absolutely see the value in screening out conditions that cause terrible suffering. The question is, where do you draw the line?

I think the probblem would be that if you had to make the choice most parents would want to limit the struggle their child would have, I didn't learn to read till I was 10 and that is in no way comparable to someone with cystic fibrosis I still wouldn't want my child to have to watch my chil struggle and know that I choose that for them.

I think it is easy to have principles, for example I think that comprehensive schools are in theory right but if I lived near a rubish school I wouldn't send my child there just out of principle. I wonder if I could knowingly choose an embryo with dyslexia over a non dyslexic one and when they struggled in a system that wasn't designed for them know that I choose that for them.

It is hard to draw a line, I guess the line is so personal and the temptation to check everything when doing pgd would be huge (not now I know you can't check for what you want but if it became widespread and easily available in the future)