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.

[Thumbwitch]

I am sorry that it has taken this situation in DH's family to bring him to the decision he has made, but kind of glad that he has taken it. I have everything crossed for you all that he is negative - and what a weight off your lives it will be if he is!

He is very brave to have taken that decision but ultimately I feel that it is the right one.

Groovey - sorry to hear your family story but I hope you stay well as long as possible, and your DD is clear.

[eve34]

Please ensure that he is referred to the genetics counselling team. Not a neurologist for testing.

[Deemail]

Thank you so much for the good wishes thumbnail.

Eve, from what I know dhs family were tested through the genetics centre and all counselling was done through them, our gp mentioned the same centre. If dh has a positive test there is a neurologist whom family members attend who has an active interest in the illness and wants to learn and help his patients as much a possible. I don't know about the UK but I have been previously told by Hadi (huntingtons disease association Ireland) that many doctors and gps know very little about the illness and that it is important to make sure the people who are in your medical team are the right ones. Our own gp knows very little but is interested to learn, there is another gp an hours drive away who has experience and interest in Hd and was recommended by Hadi, so he will probably be our main port of call but involving our own gp at the same time. Thank you for your advice eve and please feel free to let me know of anything else you would consider relevant, it's so good to get knowledgeable advice.

[eve34]

Dee. It sounds like you are in good hands. Have heard terrible stories if people being tested without any counselling or in going support.

I really hope the news is good for you and your children. It is an awful disease that ribs a person and their loved ones of everything.

We just have to hope research keeps moving forward. In the words of Ed Wild. HD is the most curable in curable disease. As they know so much.

[eve34]

That is on going. And robs. Sleep deprivation strikes again.

[Deemail]

Thanks eve, I really hope they find a cure room, one of my sisters in law said to me after she got a negative result she still didn't feel free of the disease as all her family were not lucky enough to get the same result.
It is good to know there is so much research into finding a cure or prevention. One day we will wake up and hear the good news.

[Deemail]

Hello again, I just want to give an update.
Well firstly wow I can't believe its been 14 months since I started this thread, so much has happened. Dh spoke to our gp and was adamant that he was ready for genetic testing, so an appointment was requested, there was a 6 month waiting period as there's only one genetic center in ROI. We got the first app for last spring, it was harrowing. Dhs sibling had passed away from HD a few weeks before so the timing wasn't great. All the way through I kept asking if he wanted to back out but he said no, he felt he had to know for the kids. To be honest we didn't find the genetic councelling that good, there wasn't much said, apart from reiterating dh had to do this for him and not anyone else, plus he had to fully believe he had the gene.
Dh sought councelling elsewhere and this was amazing and really helped, just one session.
He didn't want to tell anyone he was doing it so no one else knew what was happening.
A few weeks ago was the final appointment when he was given his result, at this stage we had accepted that he would be positive and carry the gene so we were just going for confirmation. The result was negative, he is not a gene carrier, his genes are the non affected ones from his parents passed from non affected grandparents. We are delighted, it's taking time for the news to set in and there's a certain amount of guilt/grief for family members who are carriers or at risk. To be honest this has been hanging over us so long it's hard to shake, it doesn't seem real, we keep having to remind ourselves.
Telling people is bitter/sweet. With some people we can openly rejoice with others its very hard as things are not as good for them and even though they are delighted for us we are grieving for them and so wishing things were different for them too.
The dc had became more aware of HD since the recent death as it was discussed more openly, they are releived too but honestly don't really realise the signifigance of it, unfortunately they will in time.

A Canadian pharmaceutical company Isis are starting human testing on a gene silencing treatment in 2015, I pray that this will be a breakthrough and in a few short years HD will be treatable like so many other illness by simply taking a pill.

Thanks again to everyone for their input, it really helped me, rereading this thread brought tears to my eyes.

[Sunna]

Wonderful news. I'm so pleased for your family.

[DeWee]

Great news! Must be such a relief.

[Allstoppedup]

So pleased to read this update. I was really saddened reading it last year as a mumsnet newbie!

Like you say,bitter sweet under the circumstances, but in all it must be an amazing relief for you, your DP and your children.

[Onslow]

That must be such a huge relief for you!

Fingers crossed for a breakthrough in treatment soon.

[Deemail]

Thank you all, it's a huge relief, just wish everyone could get the same result. We just have to keep believing that one day in the near future there will be a cure.
In the meantime there is some relief knowing we can be there to help affected family, this in itself is a gift and we fully intend to continue helping them as long as they need it.

[cupofsneeze]

Thats such good news Dee, and what a relief for you all even though it is tinged with sadness for those around you

[MaidOfStars]

Oh my goodness, I hadn't realised this thread was an older one, and was about to advise on genetic counselling, the possibility of your children being eligible for IVF and preimplantation genetic diagnosis even if they proved positive.

(Only yesterday, I was lecturing undergrads medics on the topic of the ethics od genetic testing, when it's appropriate, how to offer testing to families, etc. HD is one of the "example" cases because the ethics of testing is so fraught).

I cannot tell you how pleased I am to have got to the end before I waded in. What wonderful news, the freedom you must feel, the lightness and the hope! Good luck with your futures!

[Charlesroi]

I think you have to talk openly to your children about the possibility of this disease (I completely understand your DH not wanting to know), so that they can decide whether/how to have their own children.

It's a shitty situation. Sorry.

[IamOldGregg]

I am so pleased for you and your DH OP! I hadn't realised this was an old thread so have just caught up with it all and what a fabulous result.

WONDERFUL!

[Deemail]

Thank you both.
Yes it's a pity I couldn't edit the op with an update, I'd say it's confusing at the same time I didn't want to start a new thread as I got great advice here and wanted to let everyone who took the time to advise have a chance to read the update.
I know I got lots of varying advice and conflicting opinions but each of them really helped, it made me realise that I have a voice and shouldn't be afraid to tell dh how I felt but that equally so has he and I needed to really listen to him. It also made me realise there was no right or wrong decision but that we did need to discuss it more with the kids. The thread helped me be more vocal to the kids about the illness, I dropped it in more often here and there so when dhs sibling died we were able to be more open about it with them which was a very good thing as the reason behind the death was discussed openly and they weren't shocked, or hadn't forgotten about it, they asked a lot more questions around that time and were much more aware of the illness and implications without been made feel it was in their immediate future.

Often we discuss things on the Internet and don't realise the positive effect we can have, all contributors on this thread were amazing and I'll always be grateful that strangers took the time to help me when I needed it most.

[MaidOfStars]

In my work, it's very easy to get caught up in the technicalities of genetic testing, and I often have to remind my students that these are real people with real emotions making decisions that affect entire families. I hadn't thought about marriage breakups and so on. Your thread has been very useful to me (I know that wasn't the point of it!).

[Charlesroi]

Note to self - pay attention. And, even though it's sad for the other family members, I'm so pleased for your DH and children.

Here's hoping this horrible disease can be treated in the future.

[violet1986]

hello deemail, really pleased for you and your husband!

I didn't realise this was an old thread but I thought I'd say this anyway - we have HD in my family, it was all kept very secretive and it was only when my grandma traced our family tree that she realised there was a possiblity that her children could have it (her husband was the potential carrier, but died from unrelated causes before displaying symptoms or getting tested).

Anyway, my mum didn't tell me or my brother anything other than 'we may have huntingsons in the family' and we didn't take much notice, until I had to sit through a harrowing GCSE biology class where they described in graphic detail the disease, what it did, how it worked, etc - and had to be taken out of the class in tears! So please explain everything to your children and end the mysteriousness of it all - otherwise they may well find themselves in the same situation =

[Toastiefeet]

I'm so pleased it was negative, I'm having to decide whether I want to be tested or not.

[Deemail]

Violet that was very hard for you, I take it you're no longer at risk? The kids know that because dh is not a carrier they arent at risk, this is something we will reiterate again over time as I'm aware it's confusing for them and hard to understand.
Toasty I'm sorry to hear that, many people choose not to have the test, most in dhs family did and from what I gather that's not usual which surprises me. You can only make your decisions on your circumstances and what's best for you. We spent over a decade not knowing, yes we worried and yes it was hard at times but we made a decision to live our lives to the full and that we did, in many ways HD has had a positive affect on us as we very much enjoyed life while we could.

As dh approached the age during which it usually starts in his family we became worried plus having teens meant that soon enough we could be facing the impact on future generations. Dh can be quiet moody, this worried us both as did all the moving he does at night, I think as more members of his family developed symptoms it became more on our radar and we began to second guess everything and everything seemed magnified, it had gotten to a very stressful point especially seeing the relationships deteriorate.
Along with wanting to know for the kids dh felt he wanted to be able to put some kind of plan in place re his treatment and care if necessary and also be seen regularly by a neurologist and receive what ever bit of help they can give treatment wise sooner rather than later in hopes that the behaviour wouldn't get out of hand and to the point where he would accept no help.

Make your decision for you and your family and make sure you can live with knowing. I wish you all the best.

[Summergarden]

I'm so pleased it came back negative.

I do understand what it's like. My grandmother and great grandmother both died from the same genetic disease, but in mid 60s. My mother is now in early 60s and I admit that I can't help watching out for symptoms of the same in her. Praying to God that she doesn't show them because it would mean 50% chance of me and if so then same odds for my dc.

I have to say though that I wouldn't encourage my mother to have genetic testing done. She is a naturally depressive person and I think that if it came back positive, she would take it very badly and sink into depression and other mental health problems. Even though I'm hoping desperately that she won't get it and so I'll be clear too, if she did get it I wouldn't go for the tests myself because I couldn't bear to have it hanging over me for the rest of my life, would rather have a bit of hope.

Let's just hope and pray for medical cures for all these genetic illnesses.

[Expatmomma]

Wonderful news.
So pleased for you and was touched that you intend to "pay" your good fortune forward through helping affected family members.

I wish you, your DH and DC a happy future.

[ElephantsNeverForgive]

I'm really glad your DHs test was negative.

DD1 has been doing HD and CF in A level biology (they are the type dominant and recessive examples) and we were discussing whether we'd want to know in the car only yesterday.

We didn't reach a conclusion, being very very grateful not to have to ask the question.

She has a DF with CF, so she knows that genetic conditions are far more than just exam questions. I know if she was here she'd send you a very big 16y hug and sod it not being allowed.