Aibu? husband and genetic testing.

[Deemail]

My dh is at risk (50%) of inheriting a debilitating illness, if he is a gene carrier our dc will have the same risk. It is a terrible terrible illness which usually strikes between 30-45 but can be sooner or later, there is no preventative, cure or effective treatment.

We didn't find out that he was at risk until after we had children. Obviously when we did find out it was a huge shock. Dh felt he wasn't able for genetic testing to find out whether or not he has the gene mutation. I would have been keen to find out but understood that this wasn't something he was yet able for. We decided to wait a few years and agreed that at some point we would have to know for sure for the childrens sake, (if the illness had not already started).
It has now been a lot longer than the few years we said. The kids are teenagers and I feel we need to know for their sake. We mention the illness and family members having it and it been inherited, from time to time but they really do not understand the signifigance of it.

Aibu insisting dh has the test so we know where we stand and also where children stand. He says he wants to have it but has said that for years and has never done anything about it.
Im scared if I push him into it and it is a positive result he will blame me and also give up.. Im scared if he doesn't have it the dc will resent us in time to come for not been more honest about what lies in the future for their father and possibly themselves.

My dh is a carrier of a life limiting genetic disorder. We don't know whether dd is a carrier. It is fairly common (1 in 25 people are carriers). At some point we will need to tell dd so she can make the decision whether to be tested or not. If she is a carrier, she will need to make the decision with her future partner whether he should be tested prior to them trying to conceive as obviously if he is a carrier too, then they need to consider the possibility of having children with a life limiting disease.

Our situation is much less immediate than yours. I hope you find a way to resolve this for all of you. Good luck.

Andro we live in Ireland so I am not sure when they teach about genetics.

When I mentioned HD to my dc earlier it was in relation to their aunt, one of the dc asked if their dad or them could get it and I said its possible (I have said this before but it's always like its the first time they hear it) i said its possible but that by then there would hopefully be a cure and then they switched off. I think they think their aunt is old, she is in her fifties, and it stops them relating.

Thanks little fish. Wow one in twenty five that is common. Did you choose to be tested or is this a recent discovery.

I personally think that terrible and all as the physical effects of HD are, it's the mental effects that scare me. In dhs family so many of his siblings have alienated themselves from friends, neighbours, family, spouses and even their children it's shocking. I have to admit to been very judgemental of the spouses and the children who have cut contact with their HD spouse and parent. I can't understand it and it scares me for my dh and indeed dc.

Hi Deemail- you've hit the nail on the head re the inconclusive results. The 'mutation' is an expanded CAG tract that we all carry in our huntingtin gene- if it is over a certain number of repeats then that person will inevitably develop HD, if it is under a certain level, they won't be affected, but there is this grey area in between.

You are right in thinking that that patients will display changes in their behaviour before the motor symptoms appear- but I can't comment on whether or not genetic counselors specifically question people to ascertain that in their sessions- I do think it would be unlikely and that they are more questioning to get an idea of you as a person and how the results of testing might affect you.

HD is incredibly difficult for patients and their families- you are in an incredibly difficult situation. I can understand your husband not wanting to know- but if he gets tested and is given the all clear, then your children would definitely be unaffected. But as you say, if the results of testing were to go the other way, how would he, you and your children cope with that knowledge. There are no easy answers here which is why it is best you to talk to a qualified genetic counselor.

deemail what I think littefish DH has is recessive. There might 1 in 25 carrieres, but it won't show up unless both parents are carriers, and both passed on the defective gene. There are a lot of genetic diseases out there. I think it's just something no one talks about because of the taboo.

My parents told me not to share it with DH when uncle was diagnosed. My mum was worried how my husband would react to the news. Obviously I shared, but there really is a lot of secrecy around this.

Deemail - genetics is on the leaving cert syllabus (or at least it was 2 years ago when I was answering my cousin's endless science questions), dominant and recessive genes were definitely covered as well as the roles they play.

BTW, it's so secretive amongst our family that my own grandmother wasn't told that her own son got it. (It's Kennedy's disease btw. I might as well spill the bean what it is). My aunts and uncles and my mum are worried how grandma would take the news. It's sad isn't it? But all the siblings know. I don't know if any of my aunts, uncles or cousins went for genetic counselling or testing. It's something no one talked about.

Dee - we found out in the course of investigations into our failure to conceive. We then had to have genetic counselling, and I was tested to find out if I was a carrier, but thankfully, I wasn't.

DHs parents (one of whom must be a carrier) have so far refused to be tested. This really worries me as they both have siblings who have had children (dh's cousins). Those cousins are all a little younger than dh, but are now starting to have children. I am so uneasy about them not knowing whether they are carriers or not, or even that the possibility exists.

littlefish I would assume your ILs didn't tell their siblings either? (Otherwise they would test and decide which tell to break the news to). I would be uneasy about it too.

Yes OneLittle - that's what I assume too. I think I'm going to have to talk to dh again about it and ask him once again to impress upon his parents the importance of being tested, not for their own sakes, but for their nephews and nieces and their potential children.

Little fish it's so hard knowing something and been aware that there are others who should also know it but its been kept secret from them. HD was kept secret from us for a number of years, what makes it so hard to understand is that we were aware that another sibling believed they had it but we were told they were lying. In fairness the people who insisted it was lies believed it at first but they then received doctors confirmation that it was true and they kept it secret for a number of years. In fairness it wasn't done from maliciousness, more not wanting to be the bearer of bad news and it was at a time when our kids were young, also one not born.

Thanks ginpig. Yes I find it hard to think they would be diagnosing in counselling but there were a lot of questions re past job changes. In dhs family you can literally pick out the ones who have Hd and the ones who don't through their lifelong behaviour. This is not true as far as I can see of his cousins who got it younger. Dhs siblings who have received a positive result have always been more argumentative, argued with friends and family and were very controlling. Apparently this was always their personality. These traits became much worse with the onset of the disease. Dhs parent who developed the disease in later life would have been similar but not as bad.

My friends MIL died at a young age from HD. The poor woman had no idea that it ran in her family, it was kept a secret from her in until she developed symptoms in her 40s.
Thankfully her children were informed that they were at risk so they could make informed choices. My friends husband was tested after extensive counselling and was unfortunately found to be positive. They had IVF with genetic testing so wouldn't pass the gene on to their child.

My friends husband knew from about the age 10 or so that he was at risk but was very pleased it wasn't a big secret to him like it was for his mum.
Your husband has to decide for himself he wants to be tested but I do think your children should know there is a risk of them having it.

Orange I have heard quiet a few similar stories. I think the secrecy surrounding the disease is one of the worst thing about it. When I first heard about HD from dh it was in relation to his aunts who had the illness some who were dead others who were in care dh said his parent would not speak about it and go the decades I am with dh this is true not once has parent mentioned it. The parent has even denied to other children that said parent has the disease. I am not sure if it's denial or secrecy.

Deemail there is a programme on R4 now called Inside the Ethics Committee and they're discussing genetic testing today. The story is quite upsetting but the arguments for and against testing are interesting and you may find them useful.

I think YABU - your children know there is a risk & can decide for themselves if they want to be tested, so i think your husband should have the same right - to test if & when he's ready. You've already had the children so whether he has it or not doesn't change anything re them.

REad only the first page - the question i think you should ask yourself OP is would you have had your children still if your DH was carrying the mutation? If i were your DH i wouldn't want to know personally - ok, so he might be clear and it seems a bit mad not to know that but to KNOW you have a timebomb of a disease could be very damaging psychologically.

Also, what about life insurance? I don't know the answer to this or if it has already been raised but he probably wouldnt be able to get life insurance if he was known to be affected, however you have it in the family so maybe there is a clause.

Are your children aware that HD is in the family? Would it affect their decision to TTC?

What if genetic testing was available before your DH was born - he may not have been concieved, may have been aborted :( These are all considerations, he has had 40 years of a healthy life - we don't have a crystal ball, he might get run over by a bus before HD even shows up.

I think if this were me, i would probably let the children know (when they are considering children) that this condition is in the family and the rammifications of it, then let them make their own decisions. Please don't pressurise your DH into finding out - yes of course if they are carrying the gene they will have inherited it from your DH and he will likely go on to develop the disease but when they are adults they don't have to disclose the results to you or him.

I think the ability to test for genetic conditions is brilliant but its a can of worms that i am glad I haven't had to deal with.

Genetic counselling is the way forward i think.

hi i tested positive for the gene 16 years ago
im now 44 with no symptoms but i know its only a matter of time
my mum developed symptoms at 40 , her dadand brother had it
her and her dad died at 52
i can see both sides of it for me not knowing was worse than knowing but a posituve result has shawdowed my life since andtook the shine off it

For those who's lives are touched by hd. Please please contact the HDA. They provide invaluable support and advice. Making contact with them is in confidence.

In answer to the question regarding testing. You are swapping hope for certaincy. Without testing you hope you are not affected. If you have a positive test result. You go day to day symptom spotting. Imagine each day wondering if 'it' had started. How long till I can't work, drive, eat or walk.

Having hope that you are not affected I think would be easier to live with.

Also please check out hdbuzz. The research into hd is massive. There is so much going on. Something will change hopefully sooner rather than later.

grooveychic I am so sorry to hear you have the gene, its great you have no symptoms, long may that continue.

Thanks eve34, it is a great site.

Beepoff thanks for that but obviously I have missed it as I only saw your post a minute ago. What channel is R4, is it on sky?

In regards to not telling the kids until they are much older and possibly considering having children themselves, this will not be the route we are taking, I know first hand from our own situation and extended family that the secret keeping that often comes hand in hand is almost as devastating as the disease.

In regards to life insurance, this has all been in place before we knew the risk of HD. Dhs parent had been given the all clear for HD before gene testing and due to age there was no reason to doubt it. Also where my dh works has an excellent long term sick scheme which he would be entitled to until retirement, it is less than wages but still decent. He also has excellent life insurance through his pension scheme.

UPDATE: I decided to leave dh to it and not mention it again thinking that he would not do anything about it. Anyway in the last couple of days one of his siblings, who has HD but refuses to take any treatment, has decided to cut ties with a number of the family including dh for literally no proper reason. In dhs case he has been told that he is no longer their brother apparently the reason is because he will not listen to the sibling give off about other family members, he changes the subject. This sibling has alienated themselves from all friends, spouse, child, extended family and siblings, they will only tolerate a couple of siblings now, basically the ones who agree with everything said, because they do not want to alienate their sibling.
Anyway dh has decided he wants to be tested, he wants to make decisions regarding his medication in the earlier stages of the illness (presuming he is positive) rather than waiting until its too late, he doesn't want to end up like this sibling and two others, alone.
I asked if he was doing this because of me and he insisted he wasn't and that he feels its something he needs to do for him and the children.
Recent weeks have been very difficult in his family. its very hard watching some one you care about self destructing and not been able to help. Its also very scary to think he could end up like that and we are determined to make sure that will not happen.

He has spoken to our gp and has an appointment soon to discuss it properly. I think if he does have any serious misgivings it will come to light in counselling and it can be talked through then.

Thanks again for all the imput.

www.bbc.co.uk/iplayer/search?q=Inside%20the%20Ethics%20Committee

I heard the radio 4 programme (link to iplayer above). I think the debate raised some really interesting points.

I'm pleased your dh has made a decision though, it must be incredible hard for all of you

I don't think either if you are being unreasonable here, it's such a difficult decision to make

I think as you already have children together and HD is not treatable or preventable I can understand why your DH would rather not know.

I also understand why you want to know in order to help your children make their own decisions about testing if applicable. I understand that you don't want them and their partners to be in the position you and DH are in now.

I think all you can do is make DH aware of your opinion and strongly encourage him to have counselling from a specialist to help make a fully informed choice, but ultimately it is his choice

Sorry, I've just read your update and I'm sorry your DH has had such a hard time with his family lately but I think his decision will ultimately be a positive one for your family. I really hope he tests negative

Thank you for all the support and the link. Asking for advice here and indeed having a sounding board has been very helpful. There are people I can talk to in real life but I find seeing the pity/sympathy in their eyes makes it hard. Also dh has always said he doesn't want to tell anyone that he has gone for the test until the process is over so I wouldn't be discussing that aspect anyway.

Just read update and you are both being so brave
I go every year and have a check up and they check that you and your family are ok
Dd 15 came a few times and she is determined to be tested at 18
I have the same mindset as your dh and think that as it happens I can be looked after and treated xx

Grooveychic, I think the annual check up is a great idea. So many of dhs (large family) didn't realise they had symptoms until long after they had began due to thinking their parent was clear and symptoms were mild. After been tested positive there disease rapidly grew worse, I personally think it was the shock. Some of them resisted treatment that they desperately need/ed, they had gone past been in a fit(rational) state of mind to make the decision.
I think what you are doing is brave and in the best interests of your future self and your family. Your dd sounds very mature, I hope when the time comes she will test negative and that a treatment/prevention comes very soon. xx