Return to HDA home page HDA Message Board
HDA About the HDA HDA What is HD HDA Juvenile HD HDA Children & Young People HDA Professionals HDA Resources HDA Research HDA HDA News HDA Events HDA Contact the HDA HDA Home Page

Outside of office hours if you need someone to speak to you can phone the Samaritans on 116 123


Go Back   HDA Message Board > Message Board Categories > General HD topics

General HD topics Open forum for all other issues concerning Huntington’s disease

Reply
 
Thread Tools Display Modes
Old 14-05-12, 03:41 PM   #1
Badoon82
Approved Member
 
Join Date: Jan 2011
Location: Liverpool
Posts: 96
Default What does this mean?

Hi every one hope you are all well.

I have not posted for a while now, iv just been trying to deal with everything iv learned.

I read this on the bbc page, i may appear thick but what does this mean? "In three per cent of cases, there's no family history of Huntington's disease and the genetic fault may be a new mutation".

its the "New Mutation" that im not sure on

take care
Dawn
Badoon82 is offline   Reply With Quote
Old 14-05-12, 05:23 PM   #2
jo
Approved Member
 
Join Date: Jan 2011
Location: shropshire telford england
Posts: 312
Default Re: What does this mean?

hi im not 100% sure but i think its when none of the parents have hd but have together made a faulty gene then that child ends up with hd . i have a son age 12 with jhd we had never heard of hd till they told us leon had it 18 months ago we have not taken the test yet . and no other family member has hd well yet i also have 2 younger girls at risk love jo xxx if im wrong im sure some one will no on here matt will im sure i would ask him he has so much info x
jo is offline   Reply With Quote
Old 14-05-12, 09:20 PM   #3
DH
Approved Member
 
Join Date: Dec 2007
Posts: 2,184
Default Re: What does this mean?

Sometimes people die before the Huntingtons gets a chance to manifest. If they have kids then those kids might not know that the disease in the family.
Or if the parent has a low count (therefore low risk) this might mutate enough in their children to put the children into the high risk area.

I think it's probably not so much "new mutations" as not being diagnosed in previous generations.

The above is just my opinion; hopefully a grown-up will be along shortly to confirm this.
__________________
Fetchez la vache.
DH is offline   Reply With Quote
Old 14-05-12, 09:34 PM   #4
Dolphin
Approved Member
 
Join Date: May 2008
Location: Surbiton
Posts: 651
Default Re: What does this mean?

Hi Dawn

The HDA Factsheet on Predictive Testing (available on the website) gives you an overview of what goes on genetically to cause HD.

Everyone has a certain number of repeated CAG triplets on chromosome 4, but sometimes when a baby is conceived there is an expansion in this number that could take the next generation from a normal count into a high enough count that the person will become symptomatic at some point later on.

There is a grey area in the high 30s (repeat) where typically people may develop symptoms but so late in life that there is every likelihood something else will get them first and so the family may not know that anyone is at risk.

But sometimes the repeat just does appear to come out of nowhere and I think that's what is referred to.

Dolphin
Dolphin is offline   Reply With Quote
Old 15-05-12, 05:35 AM   #5
Trish
Approved Member
 
Trish's Avatar
 
Join Date: May 2010
Location: England
Posts: 2,379
Default Re: What does this mean?

Quote:
Originally Posted by Badoon82 View Post
Hi every one hope you are all well.

I have not posted for a while now, iv just been trying to deal with everything iv learned.

I read this on the bbc page, i may appear thick but what does this mean? "In three per cent of cases, there's no family history of Huntington's disease and the genetic fault may be a new mutation".

its the "New Mutation" that im not sure on

take care
Dawn
Hi Dawn

You are not being 'thick' at all!

I was also taken aback by the BBC Website when reading the details they post as fact.

BBC Health Page on HD

A few years ago I e-mailed Cath Stanley to ask her whether the HDA ought to look at the information such a respected national institution put up about the disease where I was horrified they were misrepresenting things.

As the others have said, the gene can appear to mutate and create HD from scratch. More likely though, the diagnosis of HD just seems to come from nowhere given there is no known family history. I'm sure if the BBC bothered to do a Who do you think you are - come - Silent Witness type programme they would no doubt uncover HD in 99% of family histories where it was not recognised previously.

What struck me as the most shocking part of the article the BBC cite as information is where on earth are they supposed to have reached the figure of 3% from? We don't know how many HD victims there are out there as it is so how can they have such a definite figure? A lot leaves to be desired and I hope the HDA do ask the BBC to look again at that article at some stage.
__________________
I tried.
Trish is offline   Reply With Quote
Old 15-05-12, 10:39 PM   #6
just1moreperson
Approved Member
 
Join Date: Sep 2007
Location: England
Posts: 3,390
Send a message via Yahoo to just1moreperson
Default Re: What does this mean?

Quote:
Originally Posted by Badoon82 View Post
Hi every one hope you are all well.

I have not posted for a while now, iv just been trying to deal with everything iv learned.

I read this on the bbc page, i may appear thick but what does this mean? "In three per cent of cases, there's no family history of Huntington's disease and the genetic fault may be a new mutation".

its the "New Mutation" that im not sure on

take care
Dawn
Hi Dawn,

What the article is referring to with regards to the 'new mutation' is that HD appears to enter the family without any family history of the disease.

It is possible for people to develop HD without either parent having had HD. I'm noy 100% savvy on the details but I know they have done a study on people not at risk of HD and found that they have CAG repeats in the 30's, which is dangerously close to the range that causes HD. So it can happen that these people then go on to have children whose CAG repeat is long enough to be in the HD positive range.

Hope this helps

Matt
just1moreperson is offline   Reply With Quote
Old 16-05-12, 06:31 AM   #7
Trish
Approved Member
 
Trish's Avatar
 
Join Date: May 2010
Location: England
Posts: 2,379
Default Re: What does this mean?

Quote:
Originally Posted by jacqueline View Post
Trish you once did a "how many contacts do you know with HD" and it even amazed me how many you came up with, and thats me who knows in my own family alone the milage HD covers, but professionals outside HD seem to not have a clue and it seems they dont do their homework either because the reality is too unreal.

Ignore me this morning its been one of those "nobody cares anymore" nights.
First of all, sending a hug Jaqueline (((HUGS)))

The contacts question you refer to was later used as part of my poems exercise. The updated Kindle version is extracted below for anyone interested. You will no doubt recognise your own references where you too came up with an extraordinary amount of links to HD.

In the context of the original post, the stigma thing comes into it too. The BBC article highlights HD can come out of the blue. It can. However, without double checking the parents, grandparents etc for the mutant gene and ruling out for certain that HD was not in the family tree somewhere I feel it is more likely that it was than it was not.

The recognition thing is key. With so much media attention to Alzheimers and dementia, I do worry families and GPs will automatically go down that route first if HD is denied as being part of the picture. How sad if the correct treatment is delayed because HD is thought of as the last resort. Incidently, I don't think I have mentioned it before but when Steve's dad died HD was left off the death certificate. That seemed like a blesssing at the time as Steve and his siblings could get away with saying they were unaware of HD in the family on any insurance/medical forms they needed to complete. Their dad died of heart failure in black and white. In terms of backtracking family history though, if we were looking for clues had we not known, for all intents and purposes we might have thought HD came out of the blue had we only ever been able to use his father's death cert for reference.

Poem:

The Prevalence

Introduction

On June 30th 2010 The Lancet published an article by Sir Michael Rawlins, Chairman of the National Institute of Health and Clinical Excellence (NICE). The article, entitled ‘Huntington’s disease out of the closet?’ underlined the need to pin down more data on the real prevalence of HD.

As a lay person reading the article, Sir Michael raises questions about the possible underestimation in the prevalence of HD. A prevalence estimate of 12.4 per 100,000 of the population of England and Wales was given as a minimum, based on the HDA having 6,702 diagnosed cases of HD on their books at the time of calculating.

Sir Michael highlights gaps in the capture of numbers where the HDA could not be expected to know of all cases of HD in England and Wales. The figures known could only formally be based on referrals from health practitioners. The stigma surrounding the disease means many people do not seek diagnosis, either through fear of the outcome or through ignorance of the disease being in the family and/or its inheritance risk.

The article also spoke of the need to better know the numbers in order to plan for the future. Finance and resources need to be made available to cope with the complex needs of HD. Not just in terms of the symptomatic patient, but those at risk, whether or not going through the testing stages.

Alongside the above, Sir Michael raises the need to tackle the disease head on by increasing research resources. By investing more in research to delay or ultimately stop progression, which needs far more concentration on pre-symptomatic patients, the drain on resources and strain on families will be less in the future.

Just out of interest, I posted up on the HDA Message Board a question.

I asked Members to add stories of instances where they had randomly come across others affected by HD. Bearing in mind how rare this disease is said to be...

Within a short space of time, a number of Members came along with stories of coming across HD by chance, This included one lady whose first cousin met and married a man with HD just as she had. However, the husbands were from different towns and totally unrelated. Then there was her neighbour who had worked with a man who had HD, and then there was a young man attending the same school as her grandchild who also had HD in the family.

For my own part, my husband’s friend at school married a woman with HD in her family; my brother-in-law’s ex girlfriend’s adopted father had HD; a friend of mine only recently discovered a HD link to foster children he grew up with, and our local Jeweller’s father-in-law had HD. I found that out when having my husband’s wedding ring changed where his weight had plummeted and mentioned HD was why there would be a hand tremor.

Last but not least... Since writing the original version of this book in paperback I have discovered another amazing link!

The woman presiding over mine and Steve’s wedding at Wandsworth Registry Office on November 25th 1988, and whose name is signed on our wedding certificate, had HD! I only discovered this when coming across her daughter through the HDA Message Board.


I do accept if someone is looking for something then they are much more likely to find it, but surely the odds of coming across totally unrelated cases of HD shouldn’t be that high if it is meant to be that rare?

“He fell again”, says the wife on the phone,
As she chatters with her husband’s brother.
“Tell him to take it with water next time,
He’s beginning to sound like our mother”.

The father had walked out on mother years back;
The boys had blamed that on her drinking,
What they couldn’t have known was depression and booze,
Was just part of her balance and thinking.

When seeing the Doctor several weeks on,
He’s asked if there’s anything known,
Of similar traits in the family tree,
Where examples of things can be shown.

“None at all” says the husband,
Believing he’s first to have something they cannot explain;
Not aware of the gene that was passed down the line,
As the doctor asks questions in vain.

Unbeknown to the boys in a town far away,
Their step-sister had hidden the news,
She’d worked out for herself that their mother was ill,
But was too scared to tell them her views.

Having married a man who had worked in a place,
Where a colleague with HD had been,
They discussed the disease, and with unnerving ease,
She identified symptoms she’d seen.

With awareness she’d found that HD was renowned,
To have stigma and keep itself ‘hid’;
And with step-brother’s children to add to dilemma,
She opted to keep on a lid.

So for several years more the oblivious sibling,
Was on his GP’s door still knocking;
With tests and prescriptions signed off all the while,
And their NHS costs which were shocking!

When finally everything else is ruled out,
And Huntington’s comes in to play,
The step-sister mentions she’d known all along,
But was worried about what to say.

The budget forecasts are due in next month,
He puts ‘1’ in the ‘Cases – HD’,
But he knows with the mother, and children and brother,
The Doctor could count at least three!
__________________
I tried.
Trish is offline   Reply With Quote
Old 17-05-12, 07:21 AM   #8
Trish
Approved Member
 
Trish's Avatar
 
Join Date: May 2010
Location: England
Posts: 2,379
Default Re: What does this mean?

I just remembered another link to HD Jacqueline albeit very tenuous

Martyn Lewis.

Steve's Great Aunt knew him, and played the Church Organ at his wedding to his frst wife.

I am led to believe his wife has/had HD.

Daily Mail article on Martyn
__________________
I tried.
Trish is offline   Reply With Quote
Old 17-05-12, 05:26 PM   #9
Trish
Approved Member
 
Trish's Avatar
 
Join Date: May 2010
Location: England
Posts: 2,379
Default Re: What does this mean?

Quote:
Originally Posted by jacqueline View Post
Wow Trish,
Where do you get these from? And that was 4 years ago so god bless how his wife is now. It said they have two daughters too but whether they are tested or not it doesnt say.
The reason that Shane ritchie is our patron is because of the actor who took part as Jane Beals husband in Estenders and died of HD, in Eastenders that is. He must have gone into the HD more because of it.
No-one seems to know why our other patron Tony Hadleigh is involved with HD. I heard it was a relative but that was only hearsay.
The crazy thing is this Jaq...

Steve and I always thought it was Huw Edwards that his Great Aunt Gladys had personally known. Knowing that Huw is around mine and Steve's age and thinking he might be a good contact I contacted Huw through his Friends Reunited Page to ask the question about the wedding story. God bless him Huw (THE HUW) got back to me and said it wasn't him but wished me luck with old HD awareness project etc.

I asked Steve's mum as I and Steve had been convinced Huw's name had been mentioned. His mum did some more digging around and said it was a famous Welsh Newreader but it turns out is was actually Martyn.

So I'm thinking "why does the name Martyn Lewis ring such a bell?". Blow me down... It then dawns on me his name is in my book where he was at the APPG thing in London that time and I did a google on his name and came across the article which seems too suggest there is a link to HD.

As for Tony. The relative story is verified in the below article and it is where I refer to in my poems 'The Patrons' when I mention Shane and Tony's patronage. The link below takes you into a free Registration page so that the article can be read.

Nursing Times
__________________
I tried.
Trish is offline   Reply With Quote
Old 21-05-12, 03:56 PM   #10
Badoon82
Approved Member
 
Join Date: Jan 2011
Location: Liverpool
Posts: 96
Default Re: What does this mean?

Quote:
Originally Posted by just1moreperson View Post
Hi Dawn,

What the article is referring to with regards to the 'new mutation' is that HD appears to enter the family without any family history of the disease.

It is possible for people to develop HD without either parent having had HD. I'm noy 100% savvy on the details but I know they have done a study on people not at risk of HD and found that they have CAG repeats in the 30's, which is dangerously close to the range that causes HD. So it can happen that these people then go on to have children whose CAG repeat is long enough to be in the HD positive range.

Hope this helps

Matt
That has really shocked me, i have not been doing my homework very well have I

I thought 100% that 1 of the parents had to have HD!

I seriously dont think i am EVER going to understand HD... my head hurts trying too!!

Thank you for getting back to me Matt so sorry i have taken so long to reply...i did not receive an email to tell me you/anybody had responded

Take Care
Dawn
Badoon82 is offline   Reply With Quote
Reply

Thread Tools
Display Modes

Posting Rules
You may not post new threads
You may not post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is Off
HTML code is Off

Forum Jump


All times are GMT +1. The time now is 01:18 AM.


About the HDA Message Board

A UK-based forum for people whose lives are affected by Huntington's disease and wish to share their experiences with others. Moderated by SHDAs from the HDA, a UK registered charity.

Please Remember

The HDA Message Board is not a substitute for professional advice. Consult a relevant professional before making decisions that could affect you or others.

Donate to HDA


Powered by vBulletin® Version 3.8.5
Copyright ©2000 - 2018, Jelsoft Enterprises Ltd.
Registered Charity No. 296453. Website Content © HDA 2010

HDA