huntingdons advice please

[agirlikeme]

DP's brother has finally been diagnosed as in the latter stages of this awful disease....I have been sure for a long time this was what it was but due to the symptoms of the illness it has been impossible to test him.......he became very aggressive adn would not go to be tested.

This means that one of his parents has it (I am 100% sure it is DP's dad as he has shown a slow decline over the last 15 years or so)....I am now absolutley worried sick that DP has it, we have 2 children. DP is 49 now...all the sites I have been on say that this illness comes out in 30 - 50 year olds, I want him to be tested but am afraid of what we might find out....Is there anyone out there who knows anything about this illness...I have read tonnes of stuff over the past 24 hours but just wnat someone to tell me it will be ok....god this is a mess

You sound like you need to speak to a genetic consellor.
Your DP has 50% chance of having inherited this disease if his Dad had it. However it is also possible that this was a 'new mutation' in your DP's brother i.e. he might be the first in his family to have been affected.

Does your DP want to know?

WP....DPs uncle died showing similar sypmtoms...his dad show mild symptoms....I am so sure that his dad has it..I have watched his decline over the years, the last 6 since dd was born have been very rapid.

His brothers decline has been scarily quick, I would say over the last 7 years he has change completely. The doctors have indicated that his outlook isnt good

I cant seem to explain to DP the importance of him knowing, the importance to our children, if he wont get tested, the I would be forced to get the children tested independently, I read some information earlier indicating that people testing positive for huntingtons are advised not to have children because it is 50 / 50 chance of passing it on due to it being a dominanat gene

Sorry to hear about your DPs brother, I know some of what you are going through. My brother was diagnosed last year with Huntingtons and it came as a complete shock as there is no known family history - our parents are both of the age that symptons would have shown by now and there are none. Have gone through worry for my brother and also stress of 'what does that mean for me?'. WP - If it is a mutation does that mean it would just be him in our generation?

I would say they have been told not to worry about their DCs as consultant is convinced there will be a 'cure' in 3 - 5 years time. I sympathise with your brother not wanting to get tested as I have thought this through and not sure I could cope if it was positive as would be living with a ticking bomb. I have also read that they would not test children until they are 18, by which time it would hopefully not be such a scary disease.

I work for the HDA. Your husband is at 50% risk regardless if it comes from his mother/father. You have to have a history of HD in the family. It can not just start. Although can be in lower CAG repeats which mean that parents may not show sign and die of something else before HD takes affect. CAG repeats can jump in next generations, especially if the father is affected. The children are currently at 25% risk til your DP takes the test.

You can contact HdA for support and an RCA will make contact with you and talk to you about the situation. Your husband can go for genetic counselling, this is a minimum of 3 sessions and a blood test. Results are not known until DP decides he wants to know the results.

Please if I can help in away just ask. It is devestating for all involved. I hope you and your DP remain strong throughout this

Eve x

Skifreak - hope you are well, just to confirm research is very positive, it it is not likely we will find a cure, it is hoped that a very good treatment to holt the disease is found within the next 5- 10 years. It is positive.

Also yes you need to be 18 to be tested, but I know 2 younger people who have asked to be tested and it was agreed that the not knowing was doing more damage than knowing and have been tested before 18.

HTH x

Eve...you are confirming all that I have read about this - thankyou,...the chains of CAG can suddenly increase making the symptoms stronger and quicker,

I dont understand when you say the children are only 25% at risk until DP takes the test?

they are either 50% at risk if he takes it and is +ve or 0% if he is -ve. (unless you mean that 25% is the average of 0 & 50%?)

Eve34 - It has been mentioned that my brother might have a 'gene mutation'. Our parents are both elderly and show no signs of being affected and nor do anyone else in previous generations (all lived to an old age). Does this gene mutation still mean he would have inherited it? and if so, did it mutate in him or does that put all his siblings 'at risk'?

You got it. As it stands because your DP has had no test the children remain at risk. for some families rather than having a blood test there are some testing by number that wors out the risk to unborn children. It is compicated.

Give your DP time to get his head around this, it is huge, as you know. But do get him to have some counselling, he does not have to get the results if he does not want to,b ut would give him time and space to talk through his thoughts on the matter. GP will make the refferal

Hi, My mother has HD.
There is a HDA website and it has it's own forum.
I had counselling at 18 and chose at the time not to get tested. Now that it is clear my mother has it, I have re-evaluated, but actually am still at the same conclusion.
For me, a result of being positive for HD would be devastating for me to cope with at present and I'm leaving my options open.
I'm not sure what benefit there would be to having the children tested either.
There are plenty of other things to make us ill before we get to the age of onset for HD.

There is support out there available to you and your family.
You just need to look for it and get all the available information together before you jump into testing.

My mother has also not been tested. It seems that the denial of the disease is part of the disease if you see what I mean. She is 60 and remains independent and driving etc so try not to panic. There's plenty time.

Also, with your partners age, it's worth bearing in mind that the later the onset the less quick the decline.

Keep asking me questions if you like.
There's not very many mumsnetters in the same position, i've started many threads about it and not got too many replies.

Fizzbuzz is very experienced in this if you see her around.

FWIW I don't think people with HD should be recommended not to have children.

Eve..if he is never tested I would still be right to tell the kids when they are old enough to make a choice about testing themselves?.

I mean in some of the literature it talks about discouraging people with huntingtons from having children because it is a dominant gene.

Oh my head is absolutely battered...and to make things worse all im worrying about is my family, when his poor brother is going through this, they havent give him that long tbh....I feel so mercenary about this....DP I think would get tested but the implications of him testing +ve are massive I dont think I could begin to take it all in ...just writing this down is making me realise..

sorry dragon xpost about having the children part, what i meant was, because it is a dominant gene it isnt like most genetic illnesses it is 50% likely as oppose to 25% in a recessive gene illness...it would become far more common than another genetic illness I think?

I am a firm believe in having an informed choice. Your children need to know of the risks they may face in the future, therefore the decision to have a family naturally or to have IVF or predictive testing on any unborn children.

Very good advice from dragonlowfatspead.

Testing is about swapping hope for certaincy (sp!)

Not knowing for some is their way of coping. What your DP needs to decide is how his life would change once he has had the results.

Not only are the children a huge concern and imagine the guilt he would feel, but day today things waiting for symptoms to start, insurance, mortgages etc.

oh too much to take in, Eve you and dragon, skifreak...thankyou, I want to cry, I need to write everything down as it is not staying in my head atm, I am not going to talk about this to DP until I have it in a logical order....a sort if logic route iykwim...DP is not a coper bless him, he will not talk about it or brew about it unless he thinks i am worrying so i have to keep a lid on it for now and list all the pros and cons. If i try ind talk to him without having all my facts/ thoughts straight he will probably blow a gaskett.

Thankyou for your words tonight, I will come back in a day or two when my head has untangled XXX

I was aware of my grandmother being diagnosed when i was about 10 years old.
We discussed it openly then and while my mother was learning about it, she told me what was going on.
Later on, I did my own research, and now, as a physiotherapist i think i understand the disease pretty well.

I think this natural way of finding out about it from a young age helped, rather than being handed the information at age 18 with no prior knowledge.

You and your husband need to discuss this together though and be ready to answer your children's questions. Obviously for me, seeing my grandmother how she was, gave me an understanding of what could possibly be in store.

But, who really knows what's in store?

also, a positive result will affect chances of getting mortgages, insurance etc.

try to get a good night sleep agirllikeme.

we'll be here again, when you want to vent.

thankyou X

Your DP needs to ask for genetic counselling. If he doesn't want to be tested, then surely he can still sort out your legal and financial responsibilities at this point in time, to rest both of your minds, before any potential changes occur.

My family don't have Huntingtons, but another dominant early onset disease. I am currently seeking counselling. Pressure by family not genetically linked has caused me great distress and i have developed anxiety difficulties.

Good luck, I know it must be really hard, but try not to think about it too much. There is a lot to take in. go to the HDA website and chat to others there who know exactly what you are experiencing. HDA will have RCA in your area - if Hant/Berks you get me :-) they can spend as long as you like talking it through.

Give ti time, it is a lot to take in at this time. get in touch anytime x

My family have hidden this for several generations, so it has come as a shock to this generation. We thought it was new to us, but turns out we can track back several generations. They had emigrated and moved around the country a lot between generations. I guess enough to lose track.

AM back again .....have thought of nothing else all week. I tried to go and see MIL yesterday to see how BIL is ( he has been living with them for the paast few years). She is very upset about it all and is blaming everyone for not knowing (Dr's SS etc etc) I think it is her way of coping, I just cant deal with her aggression, Im thinking about all the implication, they keep running around in my head, BIL has an ex DW and a son, someone has to tell them!!..Our family is massive DP has 4 brothers and sisters, they all have children!!! Where do I start???

surely this isn't all on your shoulders?
i'd say for now you start with your own family, concentrating on DH, and the kids.
You need to discuss it, maybe even with somebody like eve34 who represents the HDA, so you can get your questions answered.

Yes, it does sound complicated especially if your BIL has an estranged DW and son. I'm not sure what would be the best way to approach that, maybe somebody else knows.

It sounds like you very much want to feel that you are doing something about it. Am i right?

Hi,

Huntindons can be caused by a mutation, but is usually inherited.

I found out my adopted father died of this when my brother was 48, amd my sister 42.

My sister showed symptoms from a very early age (14), although it was unrecognised. My brother didn't show any, and is now 55 and still not showing any. Although it can start at any age, the chances decline sharply after the age of 50.

My brother has not been tested and neither have his children, but we have sort of started thinking he hasn't got it, as no evidence of any symptoms at all.

When we found out, it was tremendous shock, and devastated the whole family. However the shock does recede and life still goes on.

I don't think you should do any sort of testing until the shock has worn off (and I mean quite a long time), and then make the decision.

Fingers crossed

agirl like me, have you been to the message board? You will find some comfort knowing you are not alone.
How is DP, has he thought anymore about genetic counselling - not to be tested if he doesn't want to but for the counselling. There are also local branches for families for support and advice.
This really is something that is going to take up all your time and energies. You want answers and they are not forth coming at this moment.
Take time, this is still very raw for all of you.
It is usual that in these situations that a large number of family members are involved. Focus on those you are nearest too.
Does MIL have any contact details for XPD and son - they need to know, not right now but at some point.
Don't take this all on yourself there are others out there to help.
Keep in touch.

Eve

www.hda.org.uk/board/index.php

HDA message board - all being well?