Magazine - The Huntington's Disease Association 50th Anniversary Edition - Spring 2021
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Magazine
HD Storyline in
Casualty
Spring 2021
The Huntington’s
Disease Association
50th Anniversary Edition
Contents European
Huntington’s
2005 First #LightItUp4HD
campaign launched.
Disease Network 2003 We supported with the
founded filming of Casualty’s
First ever Juvenile
Huntington’s storyline
Huntington’s
and held the first
A letter in a Disease Weekend
newspaper reaching volunteer awards
out to people with 1970 CHDI Foundation
‘Huntington’s chorea’ founded 2002
p12 p15
New Huntington’s
Disease website 2000
p5 goes live
Charity
moves offices
United Kingdom p12 2008 from London to
Committee to Combat The Huntington’s Liverpool
Huntington’s Disease
1971 1996 Disease Association’s
is established and the 25th Anniversary
first branch is created
First Certified
Shane Richie
Gained official Huntington’s
diesease course for 2009 and Tony Hadley
charity status as ‘The become patrons
Association to Combat 1986 professionals
Huntington’s Chorea’
Facebook and Twitter
p7 pages launched
Charity is renamed
as the ‘Huntington’s 1990
Disease Association’ Specialist Huntington’s p9
Disease Adviser roles 2010
created and implemented
- Formerly known as CASE
The Annual General The Huntington gene
Meeting is held First Young Adults event -
is discovered, first Decisions, discussions
at the head office 1991 1993 predictive test is offered and dilemas
and the public are and Princess Diana
invited to attend becomes a patron
2
CONTENTS
A message from the
Chief Executive .............................. 4
2016
What our Specialist Advisers
Pope Francis blesses p18 can offer you.................................... 8
families affected by
Huntington’s at 2017
My testing journey..................... 10
Vatican City
GENERATION-HD1 and
2021 Understanding
WAVE trials halted
Juvenile Huntington’s
p17 disease....................................... 13-14
National awareness
Our first ever
2018 Inbetweeners campaign for
event Awareness Month...................... 20
The charity and
New faces of the Huntington’s
Huntington’s Community Disease Association................... 21
must cope with a global
2020
The charity wins Happy 50th anniversary
pandemic - COVID-19
2014 the AMRC Judges
to the Huntington’s
Discretionary award
Disease Association................... 21
Roche and Ionis Get Involved................................... 22
The charity wins GSK GENERATION-HD1
Impact Award for trial begins Save the date................................ 23
2013 outstanding work in
community healthcare Looking back over years at
and the Huntington’s the Huntington’s Disease
2019 Association..................................... 24
prevalence report is
published
Support............................................ 26
3
A message from Cath
Stanley, Chief Executive
It seems hard to imagine that it’s over sales, and all the other things you
a year since the first lockdown, and amazing people do, has not been
what a year it has been. I know it has possible, you have found innovative
been a struggle for so many different ways to continue to support us.
reasons. Not being able to see loved Many, many thanks to you all. I know
ones, not getting the usual support our fundraising team has lots of
and in some cases, coping with loss opportunities for you to support us
and bereavement has meant a very in the coming months, so please get
difficult 12 months for so many involved.
people. As the flowers bloom and we
see ducklings popping up in ponds We are really proud of the series of
everywhere, I hope they are a sign webinars that we have put in place
that we can begin to open up our over the last 12 months. Please keep
homes again, hug our loved ones and an eye on our website for more
value our friends and family thanks to information about the webinars and
the mass vaccination program. events to come. If you sign up to our
mailing list by visiting ‘Get involved’
I know for many, the news of the on our website and navigating to
Roche and Ionis GENERATION – ‘Join our mailing list’, we will be able
HD1 and the WAVE Life Sciences to keep you up to date on all of the
PRECISION-HD1 and HD2 trial halts events and opportunities that we run.
have been a real blow when all had Finally, the charity is 50 years old this
dared to hope. However, what has year – we are currently planning a
been learned from the trials will help number of ways in which to celebrate
other ongoing trials move forward this…so watch this space!
and so we still do have a lot to be
optimistic and hopeful about.
Cath Stanley
On behalf of the charity, I would like
Chief Executive
to thank everyone who has continued
to support us through this time. As
fundraising in the “normal” way, by
running marathons, holding bake
4
HISTORY
1971
Where it
all began
The Huntington’s Disease
Association was first formed in
1971 and was known as the ‘United
Kingdom Committee to Combat
Huntington’s Disease’. The tale of
how we became the charity we are
today is one born out of the desire
to learn more about the disease
and, as always, help one another.
On a warm summer’s day in 1970,
our founder, Mauveen Hart, made
contact across the pond with the
Guthrie family. Marjorie Guthrie was
the wife of famous musician Woody
Guthrie who sadly passed away from
Huntington’s disease in 1967.
Marjorie had already formed the
‘Committee to Combat Huntington’s
Disease’ in the USA and wanted
to aid Mauveen in her attempt to
find support for those affected by the
disease in the UK. Mauveen’s father
had Huntington’s disease and
although the Committee to Combat
Huntington’s Disease was 3000 miles
away, she found solace and was
relieved to hear that an organisation
had been formed to help people like
her father.
This struck a spark in Mauveen,
urging her to start a similar
5
HISTORY
organisation here in the UK but for other Huntington’s families to the UK. The first newsletter was
she knew little of how to do this contact Mauveen. sent out the very same month to
and by the winter of 1970 was still over 80 members. Little did the
pondering the problem. By January 1971, 76 Huntington’s group know that within ten years,
families had written to Mauveen. family membership alone would
During the 1970s, when Mauveen The next step was to send out a be over 2000.
was striving to find support for those questionnaire to grasp what exactly
affected by Huntington’s disease, the families wanted from the group Sheffield was the first branch
there was widespread ignorance and to choose a name. Mauveen to form in 1971. During that
and a stigma around Huntington’s suggested that the group was called year, UKCCHD drew in more
even within the medical community. the ‘United Kingdom Committee Huntington’s families along with Mauvee
It is said that one consultant spoke to Combat Huntington’s Disease’ an army of doctors, social workers, n (right)
Goddau with
to Mauveen and said “The Pilgrim or ‘UKCCHD’ for short! Armed with nurses and more. News spread of a ghter
Fathers took it to America and we 76 members, UKCCHD set off to doctor from Gloucester Royal
know no more about it now as we conquer Huntington’s disease and Hospital who was especially
did then” - not the information the world. interested in Huntington’s. Mauveen
you want to hear from a medical wrote to Dr David Stevens who
professional! This just urged In May 1971, a central committee offered his full support. Later, Dr
Mauveen on. was formed and their first meeting Stevens wrote family and medical
took place at Mauveen’s home in booklets for the charity.
On Sunday 13 December 1970, Ashford. This was probably the first-
an article appeared in a newspaper ever meeting of Huntington’s disease In 1986, the United Kingdom
called ‘The People’ that featured Mrs families in Committee to Combat Huntington’s
Ellen Sibley and her Disease was awarded full charity
family who were affected by status as ‘The Association to Combat
Huntington’s disease. This Huntington’s Chorea’. This meant
was the first time the disease that the group, by law, was to be
had been featured in the exclusively charitable and were set
British press and it surprised up for public benefit only. By 1990, it
both Mauveen and other was decided that the charity would
Huntington’s families in the be renamed the ‘Huntington’s
UK. Taking this opportunity in Disease Association’.
both hands, Mauveen called
the author of the magazine. On The rest...is history.
20 December 1970, a letter was
published in ‘The People’ calling
ga Photos taken from the 25th
ft) attendin
Mauveen (le ntation
anniversary edition of our
6
branch prese newsletter in 1996.
HISTORY
1993 The Huntington’s community
call for specialist support
As we entered the 90s, the “The first two recommendations are The results of this questionnaire led
‘The Association to Combat that the HDA should: to the development of a project
Huntington’s Chorea’ became the ā Coordinate a campaign to known as CASE – Care, Advice,
‘Huntington’s Disease Association’. ‘educate’ GPs about HD. Support and Education. In 1995,
The charity kept on growing which CASE was first introduced to the
ā Produce an informative leaflet
put more demand on the services Huntington’s community via a
specifically for teenagers.
we could provide and the support magazine piece entitled ‘A growing
we could offer. Other recommendations concern and developing network of CASE’.
ways in which we can: It read -
Families that were involved in the
ā Target publicity to reach
charity at that time were asked to fill “In this issue we feature our growing
out a questionnaire entitled ‘Finding families currently missing out on team of Regional Care Advisers.
out about Huntington’s disease’. membership and information. Operating at a local level they offer
86% of the community replied and ā Reduce the problems people help and advice on health and
provided feedback stating that they have in finding out about the welfare; give practical and emotional
would benefit from association.” support to those living with HD
professionals with and provide information, study
good knowledge and days, workshops and seminars to
understanding of professionals working in healthcare,
Huntington’s disease. education, social services, nursing
and residential homes, creating
The 1993 Autumn awareness of HD, the needs of
edition of our HD families and the work of the
magazine stated Association.”
that the community
had several This project saw the birth of our
recommendations Specialist Huntington’s Disease
to help people cope Advisory Service (SHDA) which
with finding out about continues to be a valued resource
Huntington’s - and the backbone of our charity to
this day.
CASE Regional Specialist Huntington’s Adviser,
Care Advisers -1995 Debra Robinson, supports
Huntington’s family 7
ADVICE
provide a comprehensive service ā Advocating for the person with
that supports the whole family unit, Huntington’s disease to get the
friends and professionals who may best support.
work with the person affected by ā Educating medical, health and
Huntington’s disease. social care professionals - meaning
We have the only dedicated Juvenile better diagnosis and ongoing care.
Huntington’s disease adviser in ā Organising and attending local
the world and offer a Huntington’s support networks and carers’
Disease Youth Engagement group meetings.
Specialist Huntington’s Disease Service that provides support to ā Providing a listening ear.
Adviser, Poppy Hill, supporting young people aged 8-25 living in a ā Providing information resources
Huntington’s family Huntington’s family.
on symptoms and how to manage
Our specialist advisers support them.
Over the years, our Specialist anyone who needs help at any stage ā Connecting younger family
Huntington’s Disease Advisory of their Huntington’s journey. They members with our Youth
Service grew and spread across can help people living with the Engagement Service.
England and Wales leaving us with disease, people at risk of inheriting ā Giving support for sensitive end-of-
a comprehensive web of support the disease, family members, carers,
life care.
that we can offer families affected children and young people. They
by Huntington’s disease today. Our can even advise friends, neighbours, If you are affected by Huntington’s
advisers can offer a range of services employers and medical teams. disease and need support or advice,
for a variety of age groups. please contact us on
Our Specialist Huntington’s Disease
0151 331 5444 or email
What our
Advisers can help by:
info@hda.org.uk. We will put you
Visiting people at home to provide
Specialist Advisers in touch with one of our advisers.
ā
practical help and emotional
You can see which adviser
can offer you now support - Currently carried out
online or via phone. currently covers your area by
Our Specialist Huntington’s Disease visiting our website, navigating to
ā Delivering a confidential telephone
Advisory service covers England and ‘Getting help’ then ‘SHDA service’
helpline service.
Wales and is delivered by a team and scrolling to ‘Find your local
Coordinating support with Specialist Huntington’s Disease
of experienced and compassionate
ā
care management professionals.
medical, health and social care Adviser’.
We understand that whole families professionals.
may need our support and therefore ā Making referrals into specialist
Huntington’s disease clinics. Specialist Huntington’s Disease
Adviser, Poppy Hill, supporting young
8 man from a Huntington’s family
HISTORY
1993
Diana and the gene
revealed that they had finally to be a patron for a time and have
discovered the Huntingtin gene. her visit our, then London based,
offices.
1993 was a big year for nature of the disease and the Our patron, The edition of our magazine from
Huntington’s disease and
the Huntington’s Disease
common symptom of mental
health problems including suicidal
Princess Diana the same year states that the
Princess planned to make at least
Association. Not only was the tendencies and psychosis. The UK remembers Princess Diana four official appearances or visits
Huntingtin gene discovered but fondly for many reasons, her on behalf of the charity. At this
It wasn’t until 1993, however,
Princess Diana became a patron. philanthropy being one. In the point, she had already made one
that a collaboration of scientists
summer of 1993, the Huntington’s unofficial visit to the head office in
led by Geneticist, Nancy Wexler,
Finding discovered the Huntingtin gene
Disease Association were lucky Battersea.
enough to have the Princess agree
Huntington’s that causes Huntington’s disease.
disease Nancy was from a Huntington’s
family - her mother had the disease
In 1872, at the age of and her father was a clinical
just 22 years, George psychologist. This background
Huntington, a third- urged her to study genetics and in
generation physician 1979, Nancy took her first trip to
from New York Venezuela where generations of
State, USA wrote people had been affected by the
rg e the first known disease with no care, consideration
Geo n
g to and accurate and a lot of stigma. For two
Huntin
description of decades, Nancy led medical teams
Huntington’s disease that he, into remote villages in
his father and grandfather had Venezuela to take blood
observed in their patients over samples for research
the years. and offer support to the
communities. Over time,
George identified the disease as Nancy coaxed scientists
a type of chorea - a movement to collaborate and find
disorder that causes involuntary, the cause of Huntington’s
irregular, unpredictable muscle disease. She raised
movements - and wrote that millions of dollars for
Huntington’s disease was a nervous research and in 1993
disorder marked by incessant and Nancy, alongside a
uncontrollable muscle twitches. Nancy W
team of elite scientists, exler at
He also noted the hereditary APPG - 2
006 9
My
HISTORY
testing
Then director of the charity, Mark
Payne said “We were told that the
who work so hard
for it. Her care and
journey
Princess just wanted pop round for a understanding by David Holley
cup of coffee. So that’s what she did.” will be a great
source of support My name is David Holley. I’m
On her visit to Battersea, Diana met to those affected
(Above) A
reception a driving instructor of 12 years
all members of staff and volunteers Merchant at the living and working in Sunderland.
by the disease.” Taylor Ha
and discussed the organisation ll in Londo
n I live with my wife Judith, we have
and the issues that those affected been together 20 years and been
by Huntington’s disease face. Mark married for four years.
Payne stated, “Her great concern (Below) Meeting
ald
about the effects of the disease and Chairman John He My father was diagnosed with
the plight of sufferers was obvious Huntington’s disease when I was
to all”. around 19 years old. It really hit me
hard in terms of coming to terms
According to the 1993 issue, it was with the illness and the possibility
clear that Diana already knew a lot of inheriting the disease from my
about Huntington’s disease that she father, as well as seeing my father go
had learnt not only from reading through the disease.
books or leaflets but prior to her
meeting with the charity, My brother Ian and I both received
Diana had visited the Royal counselling from excellent genetic
Hospital and Home in counsellors. My brother took the
Putney to meet and talk to decision to be tested immediately
patients with Huntington’s. and thankfully tests came back
showing he didn’t carry the
John Heald, former Huntingtin gene. Although very
chairman of the pleased for my brother, my emotions
Huntington’s Disease were mixed. I thought, ‘did his
Association said “We negative result mean there was more
are naturally absolutely chance I would test positive?’ even
delighted by Her Royal though I knew this wouldn’t be the
Highness agreeing to be case. I made the decision to not get
Patron. It provides even tested and tried to live my life to
Greeting c
more recognition for the harity Fun the full, all the while seeing my dad
Marketing draising a
Association and all those officer Fre nd decline physically and mentally as
da Tozer
the years passed and always having
The Princess signs the possibility of going down the
an official photograph same path in the back of my mind.
10
of herselfbefore deciding to get tested, FEATURE
HISTORY
although it was a holiday
that I didn’t really enjoy
due to the test result
awaiting me when I
would return.
The day I went to get
the result was a difficult
day, I knew no matter
what the result Judith Banger in
David’s dad
would support me. I received action
a negative result meaning,
thankfully, I didn’t have the gene. It
As years passed, I met felt like the weight of the world had I also took
my now wife Judith in been lifted from my shoulders and I part in a
my early 20s, whose support and could live my life without the cloud charity ‘banger
understanding was invaluable from of Huntington’s disease constantly rally’ to raise money
the day I told her my Huntington’s in my thoughts. It took a few weeks for the Huntington’s
story. It wasn’t until I was in my late to actually sink in that the disease Disease Association, where
30s that the ‘not knowing’ became would not continue in my family and me and my brother, Ian, drove a
worse than having to deal with that as a family, we were free of the car worth £200 from Sunderland to
a positive Huntington’s result. I disease and we could concentrate on Benidorm, raising over £500 in the
spent most of my late 20s and 30s caring for my dad. process.
analysing everything I did, from the
way I spoke, a trip on a paving stone, My dad has since passed away after Huntington’s disease is a very difficult
to a dropped teacup or a forgotten a long battle with Huntington’s, but thing to go through and without
appointment. I also feel that I wouldn’t be the the support from my family and the
person I am today without going amazing help, understanding and
I had gone around 10 or 15 years through the process of the disease support from the genetic counsellors
without speaking to the Huntington’s with my family. it would’ve been a real struggle.
disease counsellors and decided I
needed a little help from them. After Since my result, I got married to I’m still hopeful that with the excellent
several sessions with the counsellors, Judith, which I thought was about scientific work that is done behind
which really helped to set things time as we’d been together for the scenes a cure can be found.
clear in my mind, I decided to be 16 years, she’d been so
I wanted to help in any way with
tested for the Huntington’s gene, supportive throughout
families going through the
and my decision to do so, although and she’s the love
same illness and feel my
not taken lightly, felt like the right of my life. We have
story, although a positive
decision at the right time for me, due since tried to
one, may help someone
to the ‘not knowing’ seemingly taking holiday as much as
going through the same
over my life. possible and now
experience.
have a little puppy
The wait for the result took a few called Poppy that
weeks and in that time I went on a we rescued from
holiday to France that I had booked Romania. Poppy the pooch
11HISTORY
The Huntington’s Disease
Huntington’s Disease Association
has always taken the lead when it
2000
comes to Juvenile Huntington’s - we
Association goes digital have the only dedicated Juvenile
Huntington’s Disease Adviser in
and Juvenile Huntington’s
the world and have been proudly
hosting this weekend for many years,
giving children with the disease
takes the lead
an opportunity to experience rock
climbing, abseiling, canoeing and
more! Our JHD Weekend allows
In the year 2000, as the millennium internet today, it was imperative families to join together and enjoy
hit and the world didn’t actually that we kept up to date, moved with these experiences. Our Saturday
end, the Huntington’s Disease the times and went online.’ Below night fancy dress parties go down in
Association went digital as we you can see the progression of our history.
invested in our first website. website from 2000 - 2021.
To find out more about Juvenile
The year 2000 issue of our magazine By 2005 the charity was growing, our Huntington’s, please read on for a
stated - ‘We are a technology-friendly digital impact was improving and useful and informative article on the
charity that has gone with the times we decided to put a special focus on ins and outs of the disease.
and put ourselves on the internet! Juvenile Huntington’s disease with
With so many people using the our first ever JHD Weekend. The
2000 2005 2010 2014 2021
12ADVICE
be done with caution and only
if medical professionals are sure
they’re showing signs of Juvenile
Huntington’s. This means that
behavioural or speech problems
may not warrant testing and can
JHD Weekend 2005 sometimes lead to a lengthy and
frustrating diagnosis process. Our
Specialist Juvenile Huntington’s
Understanding affected by Huntington’s or not.
The Huntingtin gene is made up of
ā Seizures (In 25-30% of cases, there
is a tendency to epileptic seizures
Disease Adviser, Helen Santini, can
Juvenile Huntington’s a DNA segment called CAG which - something almost never seen in
support and advise through the
whole process. If you’re affected by
repeats itself within the gene. Those adults with Huntington’s.)
disease who are not affected by Huntington’s Stiffness of the legs
Juvenile Huntington’s and need
disease will have a CAG repeat of 26
ā
support, please contact Helen at
Juvenile Huntington’s disease ā Clumsiness of arms and legs helen.santini@hda.org.uk.
is basically the early onset and lower whereas those with 40
CAG repeats and above will develop ā Decline in cognitive function
of Huntington’s disease. As
Huntington’s is a hereditary disorder, Huntington’s disease at some point ā Changes in behaviour
children of those who carry the in their lives. However, when you ā Speech problems
Huntingtin gene have a 50% chance reach 60 plus CAG repeats you
ā Behavioural disturbances
of inheriting the disease. In some enter into the realms of Juvenile
very rare cases, this appears in the Huntington’s disease. Therefore, the Many of these symptoms will be
juvenile form and affects children CAG expansion within the inherited noticed during education as things
and young people up to the age of Huntingtin gene dictates whether like speech issues, behavioural
21. About 5-10% of all people with someone will develop early-onset problems and general changes in
Huntington’s disease have juvenile- Huntington’s disease or not. It cannot behaviour can be more obvious in a
onset. This can make dealing with be predicted what CAG expansion school environment to teachers and
the disease an isolating experience people will get if they inherit the other members of staff.
for the young people, their families gene.
Diagnosing Juvenile Huntington’s
and professionals involved with their Signs of Juvenile Huntington’s in
care including teachers. The diagnosis of Juvenile
young people and children Huntington’s can be tricky. In the
Why do younger people get Juvenile Huntington’s affects people UK, you cannot test for Huntington’s Helen San
tini
juvenile-onset Huntington’s slightly differently compared to disease until you are 18 years
disease? Huntington’s disease. Therefore, old or over. It is deemed against
The gene responsible for causing some of the common signs and someone’s rights to test them for
Huntington’s disease is called symptoms may vary. Some typical the disease without their consent
the Huntingtin gene. We all carry early signs and symptoms of the and being of age. Therefore, testing
two copies of this gene whether disease include: children and people under 18 must
13ADVICE
Support for those affected by Juvenile Huntington’s disease
Juvenile Huntington’s disease and school
There are many professionals who All schools are required, under
can offer help to someone affected the Equality Act 2010, to make
by Juvenile Huntington’s disease and “reasonable adjustments” for
their families. These include: disabled children. These can include
anything from adding ramps or lifts
ā Neurologists to providing extra support and aids
ā Physiotherapists such as specialist teachers. It is the
ā Occupational therapists (OT) responsibility of local councils to
ā Speech and Language Therapists ensure these adjustments happen.
(SALT) As Juvenile Huntington’s is such a
ā Dietitians rare disease, teachers are unlikely
ā Palliative care teams to have encountered any pupil with
it before. They may need some
Other forms of support that those guidance on how best to help.
affected by Juvenile Huntington’s Further information and resources
disease can access range from local can be found by visiting our website,
council support to NHS funding navigating to ‘Getting help’ then
and branch and support groups. clicking ‘Information resources’ and
To learn more about these services, ‘Guides, leaflets and forms’.
please visit our website and navigate
to ‘Getting help’ then ‘If you have There are other things on offer
Juvenile Huntington’s disease and to those affected by Juvenile
finally, ‘Getting the care you need’. Huntington’s along with certain
things to consider such as choosing
the best school for the child, getting
emotional support and getting
the most out of life with Juvenile
Huntington’s. You can learn more
about this support by checking out
our ‘If you have Juvenile Huntington’s
disease’ webpage by visiting our
website, navigating to ‘Getting help’
and then clicking ‘If you have Juvenile
Huntington’s disease’.
14HISTORY
We #LightItUpForHD,
2016 honour our fundraisers
and work with the BBC
2016 proved to be a time for Huntington’s Disease Association, Volunteer A
wards 2016
firsts and an exciting year including Blackpool Tower, Emirates
for the Huntington’s Disease Spinnaker Tower in Portsmouth and
Association. We joined the global the Liverpool Engineering building. Casualty and Huntington’s disease
#LightItUpForHD awareness In 2016, BBC One ran a storyline on
Please see page 20 for this year’s
campaign for the first time, Casualty based on Huntington’s
Huntington’s Disease Awareness
hosted our first ever Volunteer disease. The plot saw adopted
month plans.
Fundraiser Awards and consulted brothers and doctors at the hospital,
on a Huntington’s disease storyline Celebrating our incredible Cal and Ethan, reunite with their
in the popular BBC TV show, volunteer fundraisers biological mother Emilie who was
Casualty. The Huntington’s Disease Association affected by Huntington’s disease. The
has always been so proud and storyline followed Cal and Ethan’s
#LightItUp4HD
thankful for our volunteer fundraisers. emotional journey through the
A campaign initially started by the genetic testing process. The brothers
Without them, we could not carry
Huntington Society of Canada, get to know their mother better as
out the work we do. In 2016, we
#LightItUp4HD is an awareness Huntington’s disease slowly takes
decided that the time had come to
campaign that calls on buildings to hold. The story culminates with
throw them a real celebration and,
light up in Huntington’s charity brand Emilie sadly passing away and the
in honour of Volunteers’ Week,
colours throughout Huntington’s brothers coming to terms with the
hosted our first ever Volunteer
Disease Awareness Month in May. In fact Ethan carries the Huntington’s
Fundraiser Awards.
2016, we joined #LightItUp4HD and gene.
started our own campaign called BBC Radio Merseyside presenter,
‘Shine a light on HD’ in which we Roger Phillips, hosted the evening We were delighted to work with
Liverpool
shined a light on all those affected presenting two awards, ‘Most the researchers and scriptwriters on
Engineering
by Huntington’s disease in England Inspiring Volunteer’ and the ‘Friend Casualty to ensure that Huntington’s
Building,
and Wales. Many buildings lit up in of the HDA’ award. The winners were disease was accurately portrayed. The
Blackpool Tower,
the pink and green colours of the voted for by the public. Casualty script team appreciated and
and Spinnaker
recognised the importance
Tower
15We’ll be there
Newsletter
HISTORY
Summer 2016
of correctly portraying the
disease and the impact it has on
those affected. With this in mind,
BBC One researchers reached out Shots from Ethan’s
to us at the very beginning of script Huntington’s storyline
development, advice was then on Casualty
provided by our Chief Executive, Cath
Stanley, over a number of months to
ensure an accurate depiction.
This was an incredible way to raise
toryl ne in
awareness around Huntington’s
i
HD S
disease with viewing figures for these
specific episodes reaching over five
Casualty
million households in the UK, that’s
10% of the UK population!
Now in 2021, The Huntington’s ■ HD Storyline in Casu
Disease Alliance UK and Ireland,
alty
■ Gene Silencing ■
Fundraising Update
consisting of Huntington’s disease ■ The role of a Speci
alist HD Adviser ■ Bra
nch News
charities representing England and ■ Tips and advice
Wales, Scotland, Northern Ireland
and the Republic of Ireland, have
teamed up to develop a national
awareness campaign entitled Family
Matters. This will run throughout
Awareness Month this May. You may
spot some familiar faces fronting our
campaign as George Rainsford who
played Ethan in Casualty has kindly
agreed to be a celebrity ambassador,
devoting time to doing all he can to
raise awareness of the disease. Thank
you, George! You can learn more
about Family Matters and how to get
involved on page 20.
16HISTORY
2017
Huntington’s disease and the Pope
In 2017, the largest global “May none of you ever feel you are
gathering of the Huntington’s alone” was the powerful message Pope Francis blessing
community visited Vatican City for given by Pope Francis to the Kevin Orrick
an audience with Pope Francis. Huntington’s community. Kevin and
This was the first time in history Gloria Orrick from Liverpool were
that such a prominent world among the families from the UK who
leader recognised the difficulties were blessed by the Pope. Gloria said:
faced by those affected by “When our son Kevin was diagnosed
Huntington’s disease. with Huntington’s it was devastating
news, both for Kevin and also the
The trip to the Vatican was arranged family. Learning about the trip to
by HDdennomore, a global coalition the Vatican was brilliant. It means
of advocates dedicated to raising the world to us and Kevin, as it
awareness of Huntington’s and provided us with the chance to meet
ending the stigma around the other people who are affected by
disease. HDdennomore is headed up Huntington’s disease. It is a constant
by ex-war reporter Charles Sabine, reminder that there are other
who has Huntington’s disease. families in the same situation as us. It
HDdennomore’s website states ‘The gives Kevin and our family hope and
global gathering was inspired by the faith for the future. No one should
plight of families from South America have to face Huntington’s alone and
most ravaged by HD. Families from it is important for everyone to reach
Colombia, Venezuela and Argentina out for support.”
travelled to meet with Pope Francis This was a huge step for the
and join an audience of thousands Huntington’s community around
at the Vatican to drive awareness of the world. HDdennomore made a
HD and to lift the stigma around the documentary about the trip entitled
disease.’ HDdennomore also invited ‘Dancing At The Vatican’ which Cath Stan
representatives from Huntington’s ley (Chief
premiered early 2020 in London. You Executive
charities in the UK, our Chief ), Theresa
can watch the full film by visiting Westhead
Executive, Cath Stanley attended Adviser) a (Specialis
dancingatthevatican.com. nd Emma t
nley alongside several family members (Huntingto Burnip
Cath Sta tive) that we supported at the time. n’s researc
her)
xe u
c meet Pop
(Chief E e Francis
he Pope
greets t 17RESEARCH
2019-
2021 The GENERATION-HD1 and WAVE
trials halted and GEN-EXTEND trial
paused - Why and what’s next for
Huntington’s disease research?
In 2019, Roche and Ionis began extension study, GEN-EXTEND. Why were the trials halted?
their GENERATION-HD1 trial. A WAVE Life Sciences also ended their “Firstly, there are some questions
trial that invited those with early Huntington’s trial within weeks of about the process. All clinical trials
Huntington’s disease symptoms the news from Roche. This came should have a ‘data monitoring
to put themselves forward to as a shock to the Huntington’s committee’. These are a small group
be injected with the antisense community and research of people, independent from the
oligonucleotide (ASO) drug, professionals worldwide. So, why have company (Roche/Ionis), who look
tominersen also known as RG6042. the trials been halted and what does at the data at different periods
r Hugh this mean for future Huntington’s throughout the trial. Only they can
Professo s ASOs are a short string of DNA research? We reached out to
Rickard like molecules that can stick to
see the data divided into groups
Neuropsychiatrist, Professor Hugh according to who has had which
huntingtin RNA and stop the Rickards for some answers. treatment. As we now see, these are a
huntingtin protein from being
“I came to work a couple of weeks pretty powerful group of people and
produced. RNA is a message
ago to see a patient for the Roche/ it’s a really good thing that they are
molecule, based on DNA, used by
Ionis trial, GEN-EXTEND, only to find independent of the company.
cells as the final set of instructions
for making a protein. The aim of this out it had been “paused” the previous I’ve been able to analyse some of
trial was to show whether tominersen evening. My patient’s husband had the data that the committee looked
could slow down the progression of discovered this on HD-Buzz before at and it’s pretty clear that the
Huntington’s or improve symptoms me and the other members of the groups which were receiving the
for people with the disease. research team. Naturally, this was active treatment (tominersen) were
a blow for the whole community. gradually, but clearly, starting to go
Now in 2021, we were hit with As the days have passed, a list of downhill compared to the group who
Professor Hugh the difficult news that Roche and questions came up, some of which had been administered the placebo.
Rickards with Ionis had halted GENERATION- I’m going to try and answer here.” It looks like the more often treatment
Huntington’s HD1 and paused their open-label
was given, the larger this worsening
disease patients
18RESEARCH
effect appeared to be. My best What did we learn from these reduce the huntingtin protein. However, there’s a mismatch
guess at the moment is that the trials? There are also a number of other between the speed of change
treatment is still doing what it’s “Amidst all of this difficult news, products in the pipeline that can that scientists experience (which
supposed to do (lowering mutant it can be hard to hold on to the be given into the brain or spinal seems incredibly fast) and
huntingtin protein) but it may be fact that we’ve still accomplished fluid. the speed as experienced by
doing some other, less helpful, something new and radical in patients and families (progress
things at the same time. There are Beyond that, there are a range is still really slow in the context
Huntington’s research; we’ve of drugs that can be given by
a lot of possible reasons for this. successfully reduced the of an individual’s lifespan). It’s
It’s possible that the huntingtin mouth currently in development. probably the time for some
amount of mutant huntingtin Pridopidine, which acts to protect
protein was lowered too much or in the brains of humans with reflection, more understanding
that the treatment caused some nerve cells, is being re-tested and considering what lessons
Huntington’s disease. It’s still in a study called PROOF-HD,
inflammation in the brain. I don’t possible that there may be a dose we have to learn. We also have to
think we’ll know the full answer to including in some sites in the UK. grow in our understanding of how
of tominersen which will lower Another drug, Branaplam, which
that for some months. huntingtin enough without any biotechnology and pharmaceutical
has been used in some other companies operate (something
Some people (including me) of the “downsides” we’ve seen in similar neurological disorders,
the GENERATION-HD1 and GEN- which is relatively new for us) so
were puzzled and frustrated that is being tested in people with we can maximise the benefit from
the instruction to stop dosing EXTEND studies. There’s more data Huntington’s disease now.
to come on this.” their work.”
in the trial was publicised with Elsewhere in the pipeline drugs
no advanced warning to the What does the future hold? are being developed which directly A huge thank you to Hugh for
Huntington’s disease community. target the DNA rather than the providing us with this enlightening
“Roche and Ionis are going to
The reason the Roche/Ionis gave messenger, as the Roche/Ionis information and giving a much
look further into their data from
for this was to prevent people product does. There are also drugs better insight into why these trials
the GENERATION-HD1 and GEN-
with prior knowledge from taking in development that target other ended and what other trials we
EXTEND studies and they will have
advantage of that knowledge on genes apart from the huntingtin have to look forward to. As Hugh
to make a decision about whether
the stock market. I do understand gene - genes that seem to modify says, it is difficult to keep positive
or not to start another trial of their
that position, although it is very the effect of the huntingtin gene in times of disappointment like
drug (perhaps at a lower dose or a
frustrating. and so they are useful targets. this, however, we did learn a lot
variety of lower doses).
from the Roche/Ionis trials and
The WAVE Life Sciences study has Ideas about treatment in there is lots of other impressive
Uniqure has released preliminary
also stopped but at this stage, I Huntington’s have revolutionised research going into Huntington’s
information about the first ten
don’t have information to be able in the last decade. For the first disease around the world.
patients to receive their drug
to explain the reasons for this. time, we have a queue of drugs
directly into the brain. This drug
The only thing I can say is that it’s which all have the potential to If you are affected by
(AMT-130) only has to be given on
not related to GENERATION-HD1. modify the disease and a wide Huntington’s and need support
one occasion and, so far, it’s been
The fact that these two things range of major biotechnology or advice, please contact us on
well-tolerated in patients, who
happened at the same time is a industries working with the 0151 331 5444 or email
have to undergo an eight to ten-
coincidence.” scientific community. This was info@hda.org.uk.
hour operation. Animal models
barely imaginable ten years ago. 19
show that this drug can reliablyNEWS
New faces
National awareness campaign of the
for Awareness Month Huntington’s
We are extremely excited and proud to
reveal that we’re working as part of The
ā Conversations with decision-makers
The launch of a campaign website
Disease
Association
ā
Huntington’s Disease Alliance UK and Ireland ā Raising awareness by sharing information
which consists of Huntington’s disease
with the press
charities representing England and Wales,
Scotland, Northern Ireland and the Republic How can you get involved? We have been lucky enough to hire
of Ireland. This awareness month, we will be two new staff members this year.
You can get involved in Family Matters by
bringing you a national awareness campaign A Social Media Officer who will be
sharing your story to the Living History project.
entitled Family Matters. running our social channels and a
We want you to contribute in a way that is
new Operations Assistant who will
What is Family Matters? meaningful to you. You can contribute as an
be assisting our Operations Team
individual or as a family. You can send us a
Funded by pharmaceutical company with answering phone calls from
photo, some of your own words, a poem, a
Roche, Family Matters is running throughout the Huntington’s community and
drawing, or something else altogether!
Awareness Month in May and aims to raise general administration duties. Keep
awareness of Huntington’s disease across If you’d like to contribute, please email our reading to learn a little about them
all five countries. The alliance alongside our PR agency M & F Health at huntingtons@ both and why they chose to work for
handpicked PR company, M & F Health will mandfhealth.com with your story. the charity.
work hard to raise awareness in a variety of
ways, including - To learn more, visit our Awareness Month
webpages by accessing our website, navigating
ā The Living History project - a digital space to ‘Get involved’ and clicking on ‘Awareness
for the Huntington’s community to share Month - May 2021’.
pictures, words and thoughts on how they
feel about living with the disease
ā A large social media campaign
ā Celebrity ambassadors
ā The creation of videos that feature interviews
with Huntington’s disease families
ā Surveys to gain important data from the
Huntington’s community
20NEWS
Jordan Barbrooke - Laura Shaw -
Social Media Officer Operations Assistant
“Moving into the charity sector has “My name is Laura, I have recently
been an ambition of mine for a while. relocated from Stafford to the lovely
I have worked in social media for a city of Liverpool. In my previous role,
number of years but decided that I I worked within the programmes
wanted to use the platforms in a way team for a charitable organisation.
that was rewarding for both myself Through searching for job roles in
and those reading what I share. the Liverpool area, I came across The
Huntington’s Disease Association.
This job really stood out to me and I quickly found the website and
ahead of my interview I had already social media pages and saw what an
learnt so much about Huntington’s incredible organisation it was. The
disease but was eager to learn more. role of Operations Assistant enables
My head was filled with ideas, so I me to be part of helping so many
knew that it was the job for me. people and their families. I jumped at
My first month here has been the opportunity and hit send on my
nothing short of amazing. I am an application. I’m really excited to get
inquisitive character and the other to know the team and to get stuck in
my new role.
Happy 50th
members of the team have taken the
time to answer all my questions and In my spare time, I enjoy
educate me about the disease. knitting, building Lego
I am really excited to get fully
involved with the charity, to help
and fantasising about
pets I don’t yet own!” anniversary to
the Huntington’s
increase awareness of the disease, Operations Assistant
share the stories of those affected - Laura Shaw
by it, and also to highlight the
amazing things that the Huntington’s
community do to raise valuable
funds. Social media is a powerful tool
Disease Association
and is really important for charities. 2021 is the Huntington’s Disease Association’s 50th Birthday!
It provides a platform for us to It has been 50 years since the first group of people seeking
get important information support for Huntington’s disease gathered and decided to
across, it brings the start a charity. Later in the year, we will be celebrating this in
community together an array of ways. So far, we have decided on a celebratory pin
and it is a place where badge that will be available for purchase through our shop.
people can talk to one So! Keep an eye on our website and social media in the
another and feel a little coming months for more information on how the
bit less alone.” whole Huntington’s community can celebrate our
50th anniversary.
Social Media Officer -
Jordan Barbrooke 21GET INVOLVED
#HDHike
and join us for our new challenge
#HDHike. Digital Fundraiser
Around 8000 people in the UK
have Huntington’s disease with a
There are different ways to get
involved in #HDHike, you can
organise your own socially distanced
Volunteer awards
further 32000 estimated at high 8km sponsored walk or you can set This year, we’re hosting a Digital Fundraiser Volunteer
risk of inheriting it. yourself a challenge of covering 8000 awards to celebrate the brilliant fundraisers who took on
steps per day throughout May. amazing challenges in 2019 and 2020 in support of the
This year we’re hosting a fundraising Huntington’s Disease Association.
initiative called #HD8000 aimed at All we ask is that you aim to raise
raising funds for our work, ensuring £100 during #HDHike to help us The awards ceremony will be taking place
that we can continue offering continue our work supporting people online on Friday 11 June 2021, 3.00
support to people affected by affected by Huntington’s disease. pm - 5.00 pm. It is open to all and
Huntington’s disease. Throughout information on how to attend will
the year, we’re holding different and To take part, simply register by be released at a later date.
exciting fundraising challenges. visiting our website, navigating to
‘Get involved’, then ‘Fundraising’ and Please visit our website, navigate
In May, we’re calling on supporters clicking ‘#HD8000’. to ‘Get involved’ and click ‘Digital
to step forward for the 8000 people Volunteer Fundraiser Awards’ to
living with Huntington’s disease learn about the nominees for
this year.
#HDHike
This May we are asking you to take on
our #HD8000 challenge to support
people living with Huntington’s
disease.
Get your walking shoes on
and #tellHDtotakeahike
There are 8000 people living with Huntington’s
disease and 32000 people at risk of developing
Huntington’s disease across the UK. Registered Charity No. 296453
Jo Hague, Eli and Isaac Greer
and Rosie Allen, winners of our
2019 awards
22GET INVOLVED
Save the date
This three-day course is aimed at health, care. On finishing the course, attendees
social and care professionals working will receive a certificate confirming
with people affected by Huntington’s completion of training approved by the
We also hold regular
Understanding disease and offers a unique learning and
networking opportunity. The course will
Huntington’s Disease Association.
virtual carers meetings,
Huntington’s disease - help provide a greater understanding If you are a Huntington’s professional
who is interested in our course, please
Juvenile Huntington’s
a certificated course of the disease, an opportunity to share
experiences and ideas and discuss the visit the Events section of our website
disease Zoom meetings
and online coffee
for professionals management of complex situations. for further information and to see the mornings, please contact
registration process. us on 0151 331 5444 or
When - Monday 21 June 2021 Leading Huntington’s disease experts will email info@hda.org.uk
present online over three days on topics If you are a family member who knows a
to Wednesday 23 June 2021 for more information
professional who may benefit from this
Where - Online such as genetics, neuropsychology, on these.
course, please pass along course details
Registration deadline - psychiatry, physiotherapy, occupational
therapy, speech therapy and palliative to them.
Friday 11 June 2021
Young adults event Family event
Webinars
When - Thursday 20 May 2021,
6:00pm - 8:00pm
and AGM Since COVID-19 hit, we
Where - Online When - Saturday 16 October 2021 have expanded our digital
Where - Online resources, offering regular and
Our Young Adults event will informative webinars. These
be held online and is aimed at We will be hosting our annual
webinars cover an array of
young people aged 18-45 years family event and AGM* which will
topics related to Huntington’s
old. This two-hour evening event is include some keynote talks and
disease and are always hosted
open to people living at risk, people workshops, but this year, due to the
by an expert in the field. Visit
who have had a positive test and their uncertainty of large social gatherings
the Events section of our
partners. The session will include personal during the COVID-19 pandemic, we
website to see any upcoming
journey stories, smaller group discussion will be taking it all online. Further information will be
webinars and register today!
sessions and updates from the recent released closer to the event date, so keep an eye on our
Huntington’s Disease Youth Organisation website in the coming months.
congress. *For official notice of our Annual General Meeting 2021,
Please visit the Events section of our website please visit our website, navigate to ‘About us’ and click
to learn more and register for this event. ‘Notice of Annual General Meeting 2021’.
23FEATURE
Looking back
How has the through the highs of gene discovery
charity grown and drug trials and lows of
since you first treatment setbacks and income
over years at the
Nick Heath joined? loss in recessions.”
“As the treasurer, I What are your highlights of
Huntington’s Disease
have seen income grow working with the Huntington’s
from £1/4m to £1.75m so that Disease Association?
the charity is able to do so much
Association with more for those we support. When “My highlights were, as you can
Sue Watkin took the position of guess, related to the patronage of
Princess Diana. Her visit to Head
Treasurer, Nick Heath
Chair, we had difficult decisions
to make to implement change. Office was special and her personal
We had to dispense with a top- contribution to individuals so
heavy organisation and for some apparent. After Diana moved on
years the Executive Council ran from being our patron, I kept the
Nick Heath has been the How has your role at the charity
the organisation without an admin photograph taken at the offices
Huntington’s Disease developed?
team. As income grew, we had to in Battersea. When the news of
Association’s treasurer for 30 “When I first started, it was actually
invest in a structure to support the her tragic death came through, I
years. Nick has watched the a baptism of fire since the charity
Advisory Service which we had was lucky enough to be invited to
charity develop and grow into was struggling to establish its role.
conceived and established. I think the Princess’ funeral. I accepted
what it is today. In honour of this, There was no clear direction, the
the Advisory Service concept was the invitation and walked into
we’ve asked Nick to provide an care home we had at the time
key to the development of the Westminster Abbey directly behind
interview discussing his time at and two local social workers who
Huntington’s Disease Association as Margaret Thatcher ensuring
the charity and sharing his most were attempting to support those
was moving the charity’s head office immortality on the BBC video of the
memorable moments with us. with Huntington’s disease were event. The emotional outpouring
struggling to deliver support to to Liverpool and the appointment of
Why did you first join Cath Stanley as Chief Executive. was extraordinary especially when
the community. There was a major the crowd outside clapped Earl
the Huntington’s Disease
battle between those wishing to Now we have a dynamic group of Spencer’s speech and the applause
Association?
keep the care home, which had people dedicated to delivering, we spread up the Abbey from the door
“In the summer of 1991, I was been established by a dedicated have become more of in a wave. Being opposite Elton
approached by my firm’s senior team, and those who believed it a community John when he performed was
partner and asked whether I would had served its purpose and was a supporting something to remember
become the treasurer of a small drain on resources. The weakness each as was the procession
charity operating in Battersea. in the governance of the charity other of so many famous
Apparently, it would only involve a was cruelly exposed by the decision faces leaving after
few meetings during the year and a to close the care home. I certainly the service.
few evenings to prepare the annual learnt the importance of the
accounts. Since I was about to Executive Committee agreeing on a We also had a
marry his PA, I could hardly refuse!” course of action after this decision reception at
was made.” number 10
Downing
24 Nick Heath and Princess Diana
at the offices in BatterseaFEATURE
o a n o t h e r 5 0
H e r e ’ s t t i n g
o r
Nick Heath meeting John Major
u p p
years of s d families!
friends an
street hosted by John Major. To walk up
the famous staircase with the pictures
of past Prime Ministers was something
special.
On a personal basis, the opportunity for
my children to meet families affected
by Huntington’s disease has had a deep
personal impact upon them, of which I
am proud. It has inspired my daughter
to take up a career in science after
seeing what needs to be done.”
What’s in store for the future?
“Going forward we must maintain our
care activity but also recognise the
importance of communication and
social media to maintain and enhance
the influence, profile and success of our
organisation.”
A huge thank you to Nick for sharing
his experiences with the Huntington’s
Disease Association, we hope it gives
some insight into how the charity has
grown over the years.
25You can also read
