Huntingdon's Disease

[Tony F Dordogne]

A friend has told me today that her husband's family have a predisposition to Huntingdon's Disease - various members of the family including MiL have the disease and there is every chance that her husband has it.  I know how awful it is in the later stages, both J and I have lost friends to it.

Does anybody have any experience of dealing with this condition in France?  Husband has head firmly wedged in a dark place and wont have the tests necessary and wife (English) is worried about their 10 year old daughter.

Recommendations for doctors, specialists, groups would be most welcome. 

[opas]

Tony, If you look in the recent thread about Turners (syndrome) TWINKLE has a post  a link on there concerning rare syndrmes/maladies, it mentions Huntingdons,. Perhaps your friend could find a contact through them , either a suppert group or a specialists.

[Owen]

Hello,

Association Huntington France are located at 44, rue Chateau des Rentiers 75013 PARIS. Tel 01 53 60 08 79. I do not know of a branch in the Dordogne but there is one in Bordeaux. The contact there is Mme Francoise Bertin, 2 rue Pérey, 33000 Bordeaux. Tel 05 56 96 48 21.

Regards

Owen

[email protected]

[Anton Redman]

At the risk of raising false hopes I thought this was one of the areas where there had been serious medical progress both in life expectancy and quality of life over the last 20 years. Might be worth googling and seeing what the latest is.  

[Tony F Dordogne]

Hi folks

Thanks for the quick responses, I'll print the details and give them to my chumlette who doesn't have a computer.

I've been goggling all afternoon Anton but the prognosis for Huntingdon's remains bleak - there are drugs which may help but long term, the prognosis is dementia and a loss of function.

Trouble is, the father wont have the test at the moment - he's in denial despite his mother, 5 cousins and sister having the condition and the 10 year old is just beside herself with worry about Dad and herself.

It's what friends are for ................

 

[hastobe]

[quote user="Anton Redman"]At the risk of raising false hopes I thought this was one of the areas where there had been serious medical progress both in life expectancy and quality of life over the last 20 years. Might be worth googling and seeing what the latest is.  [/quote]

My sister is a specialist nurse for patients with Huntingdons and, as far as I'm aware, the care available is palliative / respite care - essentially making their time and passing as easy as possible.  Its a truly horrible disease - my sister has patients as young as 16 who have been diagnosed with it - and if you have watched family members die - it must make it even more horrible.  My heart goes out to your friend's family, Tony.

Kathie

[Wendy]

Tony, I worked in a neurological clinic in Australia and I would like you to try and impress on your friend to have their daughter tested at least. He may be lucky as the disease may have bypassed him but as it is the females who pass the defective gene on it would be wise to test the little girl. If she were to marry her results would determine whether she wanted children or not.  I knew of a case of twin males, one had the disease the other did not which was very unusual for twins.  I wish them all the best in one of those 'life sucks' situations.

[Teamedup]

Wen that is completely incorrect, either parent can pass this on.  It is a lottery, either you have it or you don't. If you don't have it you can't pass it on. If you have it your children have a 50% chance of getting it. It doesn't skip generations.

Unless something has changed recently then children are not tested even with the parents consent. They can ask for the test themselves once they are 18.

[Wendy]

Hi TU,

you have obviously 'googled' your info and you are very, very wrong.  I speak from years of experience here, and my mother speaks from years of experience in this field going back into the 1940's. She worked with the very doctors who strived to identify this illness even though the real advances were not made until the 1980's. It IS the female who passes on this gene. I, and my mother, have both worked with neurologists who have written papers on this illness for the Lancet and, yes, it is a lottery as to who gets this disease, son or daughter, but, it is the female who carries on the defective gene. Just as it is with various types of Muscular Dystrophy.  It most certainly does skip generations...that is where the deadly part of this disease lies...it is insidious and just because Mum or Dad never had it does not mean Nan or Pop did not have it, or Great Grand-dad or Great Grand Ma.  Just remember, that 3 generations ago this illness was identified as a form of 'madness' so the afflicted person was 'put away' and not spoken about. Many people have had this illness in the family without knowing it because of that reason, that is why it just 'appears' out of nowhere. That is why people develop it and do not know why or where it came from...because it was kept 'secret'.I know because worked in this field! I have met people, newly diagnosed, who have discovered aunts and cousins, they never knew existed,  who were 'put away' back in the 50's and 60's with this illness.

I have met and worked with entire families with this disease so do not try and tell me about it!

That man may NOT have the illness...which means either his daughter does or does not. It is entirely up to them if they have her tested now, or later. But with females having children in their teens these days, even early teens, would it not make sense?. If my child was five years of age I would have the test done. Actually, with the knowledge I have, I'd have had it done at birth.

It is not a lottery, it is an inherited illness.  It does not 'just' appear.

Your 'it does not skip generations' really has me RILED because you have no idea of what you are talking about  when I, and my mother, have seen so much of this particular illness over the years.

18 may be too late.

Thanks.

 

 

 

[Tony F Dordogne]

Hi Wen

Thanks for the input.  I saw the wife yesterday and gave her the details from here - she told me that husband doesn't want anybody to know about the 'madness' in the family, doesn't want to speak about it at all (he's an alcoholic and is threatenming suicide if he finds that he has Huntington's but he threatens that a lot), is refusing to let his daughter even consider the test (Mum is ineffectual and just talks about MiL being 'mental', she's not very bright) so this is where I step back and let them get on with it.

Having looked up what I could on line (their phone line is cut off for non-payment so no internet) and printed off all the information, it sat here for two weeks because she couldn't find the time to drive the 2.5 k to my home to get it despite promising to do so several times.

Down to them, I'll just get on with my pet leukaemia again!

But thanks to everybody for their input.

[Wendy]

God Tony, just I said, it is a 'life sucks' situation. I think you have enough on your plate but you have done your best. Its a shame about the parents attitude because their daughter is entitled to information that will affect her life, and especially that of any children she will have.  Anyway, if they want to take the 'head in the sand' approach that is their choice. I do, though, feel sorry for them.

[Teamedup]

I am sorry Wen, but you can try and tell me all you want about this but you are wrong. It sounds like me that you haven't a clue about this particular iillness and at best your comments are unhelpful.

Maybe you should google, I most certainly do not need to and won't be googling about this.

The parent with the affected gene whether it is the father OR the mother can pass it on. There is a 50% chance of this being passed on with each child that is born.

I will say AGAIN....................it does not leap generations.

 

This father in question is right, if his daughter is found to have it, then he must. (Unless there is some very cruel twist of fate that her mother has it, but if the mother has no family history, then he must.) It cannot leap. If his daughter was tested and didn't have it, he could still have it. If he has it and doesn't want to 'know', some manifestation of the illness, be it mild, will be there  by the time he is 50 anyway. If you have it you have it. If you don't you don't, and you cannot pass it on as you have nothing to pass on.

 

Children in the UK at least, are not tested until they chose, at their majority. I suppose that the family could ask, but I can't see it likely that they would do it. It is not a 'right' to have early testing in the UK. Never mind 18 being too late. I cannot imagine circumstances where the doctors would test children.

 

Please please please, this is a dreadful illness, and anyone who is dealing with anyone with it should get properly informed. AND if it is your family, start asking a doctor and seeing the specialists AND don't take second hand information from message boards.

 

EVERYTHING I have said is very very easy to check upon.

 

Incidentally this is very very rare in France, so I take it that this is a british family? I'm sure that there will be a Huntingtons Association in France and you know their GP should be able to refer them to the necessary specialists.

[hastobe]

The following may be useful:

ASSOCIATION HUNTINGTON FRANCE

42, 44 Rue du Chateau des Rentiers

75013 PARIS, FRANCE

Tel: 33 - 1 - 5360 0879; Mobile: 06-7213 0958

Fax: 33 - 1- 5360 0899

Email: [email protected]

Website: huntington.fr

FÉDÉRATION HUNTINGTON ESPOIR

20, Le Mas au Lièvre - BP26

F-57645 NOISSEVILLE, France

Tel /Fax: 33-3-8776 6165

GSM: (+33) 06 07 23 62 12

Email: [email protected]   [email protected]

Website: www.huntington.asso.fr

From the inheritance perspective, it was my understanding that the Huntingdons Chorea is inherited in an autosomal dominant pattern i.e. each child of someone with HC has a 50 : 50 chance of inheriting the disorder.  Only recessive genes skip a generation.  For this reason, the genetic tests are an accurate predictor of whether someone has the gene and so will go on to develop symptoms. 

The whole issue of whether or not to have the test is another matter and brings up all sorts of issues such as ability to get a mortgage / insurance cover etc, how to deal (emotionally) with such a diagnosis, reaction of friends, colleagues, employer - even family members. (One of my sister's patients was divorced by his, then, wife when she discovered his diagnosis - and ironically their daughter (who stayed with her mother) went on to develop the disease herself and is now having terrible problems whenever she needs respite care - she is now feeling 'rejected' by her mother - as her father was.)  It is not an obvious or easy decision to be tested for a serious genetic disorder. 

Kathie

[Russethouse]

Kathie, I had a friend who was divorced from a Huntingdons sufferer and it was his choice, she was prepared to deal with whatever came but he insisted on the split. She said he became a 'different person' after the diagnosis.

When I knew her the children, both girls had not had tests. What made my friend absolutely furious was that her mother in law had known the risk and kept quiet until both children had been born !

[Lori]

[quote user="hastobe"]The following may be useful:

The whole issue of whether or not to have the test is another matter and brings up all sorts of issues such as ability to get a mortgage / insurance cover etc, how to deal (emotionally) with such a diagnosis, reaction of friends, colleagues, employer - even family members. (One of my sister's patients was divorced by his, then, wife when she discovered his diagnosis - and ironically their daughter (who stayed with her mother) went on to develop the disease herself and is now having terrible problems whenever she needs respite care - she is now feeling 'rejected' by her mother - as her father was.)  It is not an obvious or easy decision to be tested for a serious genetic disorder. 

Kathie
[/quote]

This is very very true and often not thought of beforehand by some.

[hastobe]

[quote user="Russethouse"]

Kathie, I had a friend who was divorced from a Huntingdons sufferer and it was his choice, she was prepared to deal with whatever came but he insisted on the split. She said he became a 'different person' after the diagnosis.

When I knew her the children, both girls had not had tests. What made my friend absolutely furious was that her mother in law had known the risk and kept quiet until both children had been born !

[/quote]

The fact I raised the divorce was, in no way, meant as a criticism.  I was just trying to indicate the sort of repercussions that could come from knowing.  To know and then let someone go ahead and have a family is another thing entirely - and, imho, unforgiveable.

Kathie

[Tay]

As I knew little about this disease, and I enjoy learning about genetic illnesses, I have wiki'd and googled. 

From Wikipedia...

"HD is autosomal dominant,

needing only one affected allele from either parent to inherit the

disease. Although this generally means there is a one in two chance of

inheriting the disorder from an affected parent, the inheritance of HD

and other trinucleotide repeat disorders is more complex.

When the gene has more than 35 copies of the repeated trinucleotide sequence, the DNA replication

process becomes unstable and the number of repeats can change in

successive generations. If the gene is inherited from the mother, the

count is usually similar, but tends to increase if inherited from the

father.^[4]

Because of the progressive increase in length of the repeats, the

disease tends to increase in severity and have an earlier onset in

successive generations. This is known as anticipation."

From the Australian Huntington's Disease Association...

"The defective gene may be passed from parent to child at

conception. If a parent has the gene, each son or daughter has a

one in two (50/50) chance of inheriting HD.

A 50/50 risk factor does not mean that exactly half the children

in a family will get the disease. One child in a family of four

children could develop HD or two may get it or three or perhaps all

four or none. Each person faces his or her own 50/50 risk

regardless of whether any brothers or sisters are affected or

not.

If a person does not inherit the defective gene from the

affected parent they can't pass it on to their own

children.

Huntington's Disease does not appear in one generation, skip the

next, then reappear in a third or subsequent generation. However it may

appear to skip a generation. Consider, for example, a

theoretical case where a grandfather had the disease, his son

apparently escaped but the son's daughter eventually developed the

symptoms of HD. Rather than having skipped a generation we know that

the defective gene was also present in the son but he died, perhaps in

an accident or from a heart attack, before symptoms appeared."

I presume that the earlier comment about male twins was referring to non-identical ones?

[londoneye]

I believe teamed up and above post are correct regarding the inheritance pattern of huntingdons.    I do have a degree in genetics as it happens, but of course it was a while ago and the memory gets rusty.    Certainly in the UK most large hospitals will offer some kind of genetic counselling service; i would assume this to be the same in France.

Albeit the father cannot bring himself to face his situation, the best you could probably do in this case is to ensure that the mother is made aware of how to access counselling for the daughter, in order that she can make the correct decision regarding testing.    I have limited experience of genetic counselling in the dim and distant past and that experience suggests that such counselling would benefit the child at some point - as to the best time, no-one can really say, it is a matter for the family and the child herself.

[Iceni]

It is important for the husband to get the test done. Either affected parent can pass it on.

My situation was that I was married with 2 children, one who has Spina Bifida. The grandfather was then diagnosed with Huntingdons Chorea as it used to be know. I had spent years with MiL saying that no one in their family had ever had a defective child so as you can imagine life was great.

There were no tests for HD in those days and the diagnosis was made as his mother died of senility with tremors in her 80's and FiL had the same thing when he was in his early 50's.

He died suddenly in hospital and although MiL had written a letter beforehand and given it to the specialist they refused to send his brain to I think Cambridge where they were researching. It then came out that FiL was a twin, the other twin died at birth from a spinal complaint (still with me?????). Spina Bifida is hereditary in some form as I know couples with 3 children but with Folic Acid added to food the incidence of positive tests is still dropping. My two sons wives will have to get advanced tests as and when their wives get pregnant. The first 2 little girls are fine.

Of the HD family, the three sons are now in their 60's with no symptoms and 10 grandchildren and 2 greatgrandchildren are fine. It looks like FiL had a sad case of dimentia - which is rarly passed from one generation to another at that early age but does make it more likely as this was a case of dimentia with chorea for both of them.

Woody Guthrie - the US country singer was a victim and his song 'This land is my land' is sung in every US school every day. Bit off thread but I love his music.

Di

[Wendy]

If you dont have it by the age of 30/35 you usually do not have it. HD does not appear in mid to old age.

[Teamedup]

Please please please Wen, stop this. The information you have given is yet again incorrect.  I don't want an argument about it either. Just do some research about it. It isn't other illnesses that you seem to be mixing it up with. And it is far too serious an illness for me to let your comments slide.

And please, anyone I mean anyone who needs information about this, get in touch with a genetics unit, they will tell you everything about it.

 

[Dick Smith]

Just the briefest look at the Huntington's Disease Association website tells us:

"The symptoms of

Huntington's disease usually develop when people are between 30-50 years

old, although they can start much earlier or much later. The symptoms

can also differ from person to person, even in the same family."

So TU is right. This information was so easy to find that I can't understand where Wen is getting information from, and why it is so wrong.

http://www.hda.org.uk/charity/whatishd.html