1

HUNTINGTON’S DISEASE ASSOCIATION NORTHERN IRELAND

Families at the heart of all that we do

HUNTINGTON’S DISEASE ASSOCIATION NORTHERN IRELANDFamilies at the heart of all that we do

Huntington’s Disease Association Northern Ireland Newsletter

Christmas 2012, Seasons GreetingsSponsored by GPS Colour Graphics Ltd

Message from the Chair

Dear friends and supporters,

Let me begin by wishing each and every one of you and your families a happy and peaceful Christmas and a prosperous New Year.

It has been a whirlwind of a year for the Association, with so many changes happening all around us.

Most of it has been good and our board gets stronger and more successful in its endeavours year on year. So, I’d like to take this opportunity to thank everyone on the board (past and present) for their hard work and to offer congratulations on the progress HDANI has made and continues to make.

Many thanks too, as always, to our esteemed Patron, Baroness May Blood MBE for her continued support and encouragement.

It has also been a sad year for seven families who lost loved ones in 2012 and our love and thoughts go out to those families at this time.

In 2012 the focus of our work was fi rmly on young people living with Huntington’s disease, and that theme continues on into 2013 with the exciting prospect of a new Youth Service (led by young adults themselves) to support children, young people and their parents. All the news about these exciting plans is within the pages of this issue for you to enjoy and I urge everyone to support this work.

You will also fi nd much good, and exciting, news about the amazing progress and hope that has been brought to us from researchers all around the world. Some of this news was delivered in person by Dr. Ed Wild at this year’s Conference and it fi lled us with real optimism, and spurs us forward in all our aims and objectives.

Finally, here’s wishing everyone all the very best in renewed hope and vigour for 2013.

Pat McKay(Acting Chair)

Contact:Member Services and Newsletter: Errol Walsh Tel: 028 2177 1812 Email: errol@hdani.org.uk Listening Ear Service: Pat McKay Tel: 028 90221950 and Errol Walsh Tel: 028 2177 1812Youth contact: Tel: Cat Martin 07785 332063 Email: hdyo@hdani.org.uk HD Nurse Specialist Team: Belfast City Hospital Tel: 028 9504 7930

Website: www.hdani.org.uk

2

My sister Paula and I travelled to Stockholm, Sweden on Thursday 13th Sept to take part in the EHDN plenary meetings and conference. The Young Adults Working Group (YAWG), of which we are members, also held sub-group meetings upstairs in the same venue and we participated in both events. The annual conference attracted 700 delegates from around the world with speakers from high level professional backgrounds, including Ed Wild and Jeff Carroll (HDbuzz), Charles Sabine (internationally renowned journalist and HD advocate) and many more. We both found the conference itself to be very scientifi c although, from what we could understand, there is great global progress in both research and treatments. We spent Friday and Saturday in our YAWG meetings and we found these to be of more benefi t in terms of our hopes and plans for HD developments in N. Ireland.

On Friday night we were honoured to receive a special invitation to Stockholm City Hall for a reception dinner to mark the conference. It was an amazing opportunity to see this very unique building. It was arranged that we travel across to the City Hall by boat and we had a wonderful night.

On the last day of the conference Matt Ellison, the founder of Huntington’s Disease Youth Organisation (HDYO), gave a closing speech on his personal experiences and his achievements which was very touching and emotional. Matt talked about how he felt the need for a website for youth affected by HD that would be appealing to both young people and parents, and with the offi cial launch of HDYO in Barcelona in February of this year he succeeded!! Paula and I are both so proud to have been involved in this, and half way through his speech he thanked us along with the rest of the YAWG members and invited us on stage along with him where we all received the one and only standing ovation of the weekend! Wow!! It really was a very special moment for us all, and one we defi nitely won’t forget.

We had a great time as always and came away from these meetings with new friendships and great hope for the future!

Tina Stephens x

Matt Ellison sent the following email out to HDYO supporters on November 22nd.

“In Stockholm, at the EHDN Convention this September, we spent an entire day interviewing young people from different regions of the world. These interviews with young people focused on experiences of key issues such as testing, having children, telling partners, bereavement, being a young carer and emotional wellbeing. We also did interviews with some professionals to get insight into important aspects of HD and my own speech at the convention, about HDYO and support for young people, was fi lmed too. This has resulted in 10 wonderful new videos, which were added to HDYO’s Youtube channel this week. These videos are brave, honest, insightful and resonate with many impacted by HD (young or not). They are also free for all of our supporters to use how you wish. Please fi nd direct links to all the videos at www.youtube.com/hdyofeed

I hope you enjoy the videos and that they are of use to your association. HDYO intends to use these valuable fi lmed experiences from young people and add them to relevawwnt educational sections on our website where other young people can view them. Some of these young people were incredibly brave in discussing very emotional topics, and their bravery will hopefully mean young people watching their interviews will be able to relate to what they experienced and know that they are not alone and support is available. All videos will eventually be subtitled too in various languages for further use globally.

Thank you for all your continued support - without it we could not have done these videos and we would not be making the impact we currently are with young people globally. These videos are HDYO’s last projects for 2012, it has been an incredible fi rst year for HDYO, a huge success. We will be emailing you all in December to discuss your continued support for 2013.”

EHDN Plenary and Conference (Stockholm 2012)

3

Donations and FundraisingDonations

A Mellon - £10.00R Halpin - £25.00M Murphy - £10.00Imo the late Mr G Heatrick - £700.00Mr & Mrs Mitchell – Imo the late Mr G Heatrick - £30.00Baroness M Blood - £300.00Tullywhisker Pipe Band - £400.00A Neeson, Australia - £6,161.00Imo the late Mr S McConnell - £1,400.00W Johnston - £100.00R Hamilton - £50.00C Martin – Imo the late Mrs J Magee - £5.00Mr & Mrs Dickson – Imo the late Mrs J Magee - £25.00Mr & Mrs Richardson – Imo The Late Mrs J Magee - £25.00Mr Sloan - £100.00Crumlin Rec. Football Club - £1,200.00V McGall - £250.00D Hosier - £50.00M McCallion - £40.00G Henry - £50.00Donations Via Bank - £258.00S. Phoenix - £64.97Glens Vintage Club - £500.00Anon - £200.00

Collection Boxes

Knockburn Service Station - £100.60Ballykinler Social Club - £42.00Wineworld, Bangor - £14.45Café Chimes, Hillsborough - £22.00S Clark - £16.50Café Deelite, Hillsborough - £61.07Armagh Support Group - £204.60Spar, Trillick - £50.00

Penny Jars

I Haywood - £6.85L Alberts - £9.80P McKay - £21.64

Project FundingPHA Youth & Family

Engagement Initiative - £20,000.00

Events

Marks & Spencer Customer Service Team, Sprucefi eld – Abba Night - £570.00Armagh Support Group – Draw - £320.00Omagh Support Group – Cycle Run - £300.00

Annual Ballot

Thanks to the sponsors who supported our raffl e at Conference by offering fabulous prizes!... and to everyone else who donated prizes, sold and bought tickets. We raised a fantastic £2,864.00!!!!!!

The Armagh Group very neatly turned a £100 donation from a gentleman called Jimmy Sloan into a £320 profi t by running a ‘Buy a Number’ Squares game offering the £100 as the prize! The winner was Ruth Gardner of The Meadows, Banbridge and the winning number was drawn by a customer in the Armagh City Hotel called Ann Little. Well done Armagh!

HDANI is grateful to The Tullywhisker Pipe Band in Co Tyrone who held a charity concert in Castlederg on Saturday 14th July and shared the proceeds between ourselves and Diabetes UK. One of the band members had lost family members to Huntington’s and nominated HDANI as benefi ciaries. Each charity received £400.

Jonathan Black of Tullywhisker Pipe Band presenting cheque to Michael McNulty of HDANI

Crumlin Rec. Football Club sadly wound up the club this year after 50 years and generously donated the remainder of their monetary assets to eight different charities.Local man Michael Doyle who suffers from HD was a staunch member of the club and served on their committee. His friend and colleague Tommy Miller nominated HDANI as one of the recipient charities. Gratefully received!

Errol receives a cheque for £1,200 from Tommy Miller of Crumlin Rec. Football Club

4

The AGM was conducted by Marilyn who is currently standing in for Pat McKay as Chair. Marilyn delivered a positive report on the fi nances wearing her Treasurer’s hat, and the annual election of HDANI offi cers was held.

Dr. Matt Armstrong (psychiatrist) and Susan Cooke (family member) were voted onto the board and standing offi cers were re-elected. Resignations from Ken Watson and Sharon Rosbotham were noted and both Ken and Sharon were thanked for their valuable contributions.

Conference just seems to get better every year!

That our development as an association is progressing is always encouraging, but this year’s conference brought a greater ray of hope and optimism than many might have expected and it came on two fronts. Firstly, in the form of Dr. Ed Wild and the message that he brought to us in his presentation. Ed, as he prefers to be called, is a neurologist and a lecturer in neurology at University College London. He is also the co-founder and editor-in-chief of HDbuzz, the online research website that translates complex scientifi c research data into plain English. The second ray of hope came in the form of Matt Ellison and Cat Martin from Huntington’s Disease Youth Organisation (HDYO). But fi rst things fi rst…

Ed Wild delivered a comprehensive presentation on the exciting new research

Carers and Family Conference 2012developments that are taking place around the world and bringing real hope to HD communities everywhere. In keeping with his role at HDbuzz, Ed delivered his message in language that his audience could understand… and with great energy and humour. There really is so much progress being made on the research front and human clinical trials for the development of new treatments are expected to start by 2013. All the delegates were energised and uplifted by Ed’s message… a real tonic for the troops!

You can keep up with all the latest research news at HDbuzz online at www.hdbuzz.net

Ed’s presentation was followed in the afternoon by that of Matt Ellison and Cat Martin from HDYO. Matt is an inspiration to young people living with HD around the globe, and is very charismatic in his modest and soft spoken way. Cat is well known to many of our young people who have attended summer camps in both Scotland and Sweden and together they presented their own message of hope for young people and adults alike.

Young people living in HD families have often felt isolated by a disconnection between themselves and adults who may, at times, feel fearful and over-protective of their children….. or, who are simply unable to fi nd the means to effectively and sensitively communicate HD information which they themselves may fi nd overwhelming.

Matt was quick to realise that young people themselves are best placed to create a mutually supportive network that can reduce the isolation that so many young people feel, and so Huntington’s Disease Youth Organisation (HDYO) was born. In less than a year, their website (www.hdyo.org)is attracting impressive web traffi c from all over the world. It offers young people their own voice and forum for discussion and shared experience outside of the sometimes suffocating pressures of adult attitudes and the restrictive environment of home life…. particularly if they are young carers.

Cat was an important team member and part of the development of the Scottish Huntington’s Youth Service which has, in turn, inspired HDANI to seek to set up their own

5

youth service. She is also a board member of SHA and HDYO. Her considerable experience coupled with Matt’s vision has convinced the HDANI board that, not only will our young people gain immense benefi t from having their own youth service in N. Ireland, but that it will function much more effectively if it is led by young people.

A post conference meeting was held the next morning which was attended by young adults from both sides of the border, HDANI board members, Cat Martin, Matt Ellison and Marianna Klimontowicz from HDYO and Patricia Towey (development and administrative offi cer of HDAI). After much animated discussion and amidst great excitement, four of our young adults undertook to set up a network and a steering group for a youth service in Ireland which the board would support by exploring means of funding the project.

This really is good news for the association and for generations of young people whose energy and commitment will sustain and promote the work of HDANI in the future!

Reminiscences Workshop: (thanks to Richard Hamilton for his notes on the workshop)

Elsewhere, while the HDYO presentation was taking place, some of the more senior members of the association held a ‘reminiscences workshop’ to mark the progress of the association over the past thirty years and share their own personal experiences and memories of their journey with HD.

The workshop was hosted by Wendy Johnston, a retired genetic nurse who made a major contribution to HDANI in the early days of the Association. Wendy is held in great esteem by

many of our members who still love to recount, with unbounded respect and affection, tales of her passion and commitment. So, it was a very special reunion for all when Wendy graciously agreed to host the workshop, the main aim of which was to acknowledge the contributions of the founders and early membership of HDANI and to set a benchmark for the Association’s progress since its inception.

Marilyn Kerr recalled the fi rst HDANI meeting which was held in the Assembly Building in Lisburn when she, her late husband Geoffrey, Wendy, Betty Alcorn and many others became involved. The initial group gradually dwindled but was then rekindled some time later. Marilyn shared some photographs of events and press cuttings from her scrapbook and recalled the problems with diagnosis, how little was known about HD and how there was virtually no help available. Many relationships, meetings, events and changes in clinical services were recalled as the group discussed past and existing issues. Claremont Street Hospital in Belfast was the centre to which people were referred before clinical services were gradually moved to the Belfast City Hospital.

Another topic of discussion was the pros and cons of more involvement with the wider community in Europe. Some felt that the Association’s limited resources should be prioritised for supporting local members and families while acknowledging the view that

Matt Ellison HDYO Founder

Cat Martin

6

there was much knowledge and experience to be gained by a wider international involvement. In fact, a good balance of home support and wider involvement has been achieved over the years. HDANI has been represented at a number of European and world conferences and has fostered a long association with Scottish Huntington’s Association supported by their then Chief Executive, Marie Magill, who has always retained her strong connection with HDANI. This bond widened and strengthened with the formation in 2010 of the UK and Ireland HD Alliance (England/Wales, Scotland, Ireland and N. Ireland) which grows in strength year upon year alongside many other important relationships and partnerships which have developed, and continue to develop, across many borders both at home and abroad.

HDANI has come a long way from its beginnings in 1974. Regional support groups have sprung up in Armagh, Omagh and Limavady as well as in Belfast, helping to ensure that we have been able to grow and forge closer links with local communities as well as developing greater awareness of HD. Pat McKay underlined the Association’s motto “Families at the Heart of All That We Do” when she stressed that one of the main benefi ts of the association was the feeling of belonging to a wider HD family and that we should not feel alone in dealing with Huntington’s.

Many thanks to all who attended the reminiscences workshop and a special thank you to Wendy Johnston whose presence oiled the wheels of memory, affection and kinship.

The Craic!

After all the excitement of the day, and a few hours to rest and freshen up, delegates met for dinner and the evening’s ‘craic’! The food and service at La Mon seem to get better every year and we were treated to a wonderful dinner. This was followed by the raffl e (prize winners will be listed on the website) and the table quiz which is acquiring legendary status after last year’s hilarity. There was all the usual craic… uproarious dissent and light-hearted accusations of unfair advantage between tables…. even the quizmaster was accused of favouritism! Last year’s ‘Grandmaster Flash’ lost his crown this year to Ed Wild whose antics had us all in stitches. Ed’s a ‘smart cookie’, he also has a very competitive streak and does a very creditable Mr Bean impression! Someone later was heard to comment, “Comedy’s loss is Science’s gain!”. Thanks to everyone who came and contributed to the days events and we’re already looking forward to planning next year!

EHDN ShortsA few interesting ‘shorts’ from the 7th Plenary Meeting of the European Huntington’s Disease Network (EHDN) in Stockholm, Sweden (EHDN Newsletter- Nov 2012)

Michael Hayden (Vancouver) reminded the mee¬ting that as many as fi ve per cent of the general popula¬tion may carry an “intermediate allele” or “grey area” HD gene, with 27 to 35 CAG repeats. The offspring

of these people are at risk of inheriting an expanded CAG tract, with repeats in the 36-39 range, meaning that they could develop the disease in old age. In the past, this group of carriers may not have lived long enough to reach diagnosis, but in an ageing population that scena¬rio is becoming increasingly common. The prevalence of HD is going to have to be revised upward as a result, genetic counselling will have to be made available to

7

An old gentleman lived alone in New Jersey. He wanted to plant his annual tomato garden, but it was very diffi cult work, as the ground was hard. His only son, Vincent, who used to help him, was in prison. The old man wrote a letter to his son and described his predicament:

Dear Vincent, I am feeling pretty sad because it looks like I won’t be able to plant my tomato garden this year. I’m just getting too old to be digging up a garden plot. I know if you were here my troubles would be over. I know you would be happy to dig the plot for me, like in the old days. Love, Papa

A few days later he received a letter from his son.

Dear Papa, Don’t dig up that garden. That’s where the bodies are buried.

Love, Vinnie

At 4 a.m. the next morning, FBI agents and local police arrived and dug up the entire area without fi nding any bodies. They apologized to the old man and left. That same day the old man received another letter from his son.

Dear Papa, Go ahead and plant the tomatoes now. That’s the best I could do under the circumstances. Love you, Vinnie

An old gentleman...

a broader category of people, and clinicians will have to adapt to the fact that the disease presents differently in late-onset patients.

Oliver Quarrell (Sheffi eld) gave an update on the work of the juvenile HD (JHD) Working Group.

JHD, the onset of which occurs before the age of 20, accounts for fi ve per cent of HD. It is associated with very large CAG repeat num¬bers—over 60 in about half of cases—and preliminary fi ndings from magnetic resonance imaging (MRI) studies suggest that bigger expansions are associated with more rapid brain shrinkage, lending support to the idea that JHD has a shorter duration than adult-onset HD. If that is the case Quarrell said, then the JHD population might be of interest

to those designing clinical trials, because the effects of drugs might also be demonstrated more rapidly in this population. A new sub-study of the Euro¬pean observational study REGISTRY is currently enrolling JHD patients in Europe, with 40 having been recruited to date.

In an ideal world, said Alexandra Dürr (Paris), care should begin as early as possible, and be multidisciplinary since many studies have now documented changes long before diagnosis, including metabolic—refl ected in early weight loss—and brain struc¬tural changes.

If you would like a copy of this EHDN Newsletter by email please contact Errol (errol@hdani.org.uk )

8

Having hardly had time to catch her breath after the SHA summer camp, board member and youth volunteer Paula McElhinney fl ew to Sweden with the Scottish and Irish contingent to stand in for Cat Martin who had to cancel at the last minute due to the sad loss of her mum.

Paula’s report is below:

“After a few hiccups with travel plans, we all made it to the beautiful town of Bastad, south of Gothenburg. We were chauffeured by my lovely friend Carina, who along with Inga, hosted this wonderful week of jam- packed activities and outings. On our fi rst night we were introduced to everyone (although it took me a couple of days to pronounce all the different names!!) before we were shown to our rooms and settled down for the night.

Day 1, we were told the most fantastic news, that an unexpected heat wave had arrived and was to last the full week, Yippee!! We walked to our fi rst activity of the day in the woods, where we got into teams and played ‘boules’, threw heavy sticks, blew darts and fi nished with volleyball.

Day 2, after breakfast we headed for Bastad’s football grounds for a full day of Samba football and Samba dancing, as you can image, there were a lot of laughs, great exercise!

Day 3, was all about meetings and talks. We were put into sub-groups for discussion and while some of the young adults talked, others

just decided they wanted to listen, which was perfectly OK. During the day we had a visit from a lovely man who suffers badly from Parkinson Disease and was only 30 when he was diagnosed. He told his personal story and by the end there wasn’t a dry eye in the room… everyone seemed to really connect with him.

Day 4, we boarded a double decker bus to visit Lund University in Malmo. Asa, a friend of Carina’s, kindly invited us to have a tour and lunch at her practice, where they are currently researching H.D. in the hope of fi nding a cure! Everyone was absolutely mesmerized by the fi ne detail and precision work that they carry out on a daily basis.

Day 5, a real scorcher!!.. too hot for any activities, Carina arranged with another one of her good friends, who owned a rib boat, to take us out for a spin.. what an amazing experience! We spent the rest of the day on the beach sun-bathing. Later that evening, Bastad held their annual Brazilian night, so the whole beach came alive with music blaring, drums banging and everyone Samba dancing, it was truly an unforgettable event!

Day 6, Saturday, our last day in Bastad, we spent most of the day, making a video for HDYO. Each country that participated had its own contribution to make and when it all came together it was a very productive watch.

A few of the young adults came up with their own saying from camp.......’Uniting, together

International Summer Camp 2012 (Sweden)

Day 4Day 4, we boarded a double decker bus to

9

as a group, we have the chance to express our feelings, laugh together, cry together, smile, share our experiences and talk, be informed and enjoy the time with each other, one thing brings us together, HUNTINGTONS DISEASE!’

Day 7, the day we all dreaded, having to say goodbye to old and new friends, never easy!! After breakfast everyone spent an hour together, crying, laughing and exchanging email addresses, before boarding Carina’s minibus for the station, for the start of

a long journey home, we all made it home safely.

The Swedish Summer Camp was fantastically organized with a lot of hard work behind the scenes from my lovely friends Carina and Inga. WELL DONE GIRLS!!!”

Paula McElhinney

10

HD Youth and Family Engagement Initiative Following the post-conference Youth group meeting HDANI was awarded £20,000 by the Public Health Agency to explore the viability of a sustainable HD Youth Service for Northern Ireland. We have retained the services of the very experienced Catherine Martin to oversee the planning and setting up of this initiative and to support the young people who will form the steering group and take the service forward. HDANI will, of course, support the efforts of everyone involved.

This will require signifi cant engagement with both young people and parents by a number of means including, phone, email, family visits, workshops with support groups and other events culminating in a two day Open Meeting with parents and young people to discuss the outcomes of the initiative, how the future of a Youth Service might look and what it can achieve. The two day Open meeting (including meals and one night stay) will be held at the Share Centre in Fermanagh on Sat 16th and Sun 17th of February 2013 and the costs of this event will be met from the funding resources.

HDANI is very aware of how diffi cult it can be for some to broach the subject of HD in families, particularly with young people.

For too many years HD has been associated with fear, shame and stigma, and hidden from view, but it is now generally accepted that speaking openly and bringing it into the open is much more benefi cial in the long run. We understand that parents fear for their children and are deeply concerned about how to break the news of their genetic risk to them. Many of us have faced the same dilemma with our children and grandchildren. Should we tell them? When to tell them? What to tell them? … and most importantly… How to tell them?

And herein lies the great potential of a youth service…. an opportunity for parents to discuss, in confi dence, these questions with a highly experienced and qualifi ed youth offi cer who can then facilitate sensitive interaction between parents, children and young people and health professionals if necessary.. an opportunity for young people to share their

concerns with their peers and thus feel less isolated and infi nitely more supported…. an opportunity for young people to fi nd their own voice and to contribute their own ideas and create events and strategies that will raise awareness in the fi ght against HD.

This is an opportunity to be grasped with both hands!!

If parents or young people would like to take part in this exciting new initiative or to discuss any issues or concerns you may have about it, please contact any of the following in confi dence:

Christine Collins (Vice Chair) Tel: 07843256442 Email: christine_collins@mailforce.net

Errol Walsh (Member Services & Development) Tel: 028 2177 1812 Email: errol@hdani.org.uk

Catherine Martin (Project Manager) Tel: 07785 332 063 Email: catherine.martin1@btinternet.com

Megan Donnelly (Youth Steering Group) Tel: 07598154120 Email: donnelly.megank@gmail.com

Sarah Louise Leonard (Youth Steering Group) Tel: 0774 912 6921 Email: sleaonard89@live.co.uk

Ashley Clark (Youth Steering Group) Tel: 07731490273 Email: ashley_clarke93@hotmail.com

Katie Martin (Youth Steering Group) Contact HDAI Tel: 00353 18721303 Email: hdai@indigo.ie

11

Development offi cer Errol and his wife Susan attended the SHA Family Conference in Ayr on Oct. 27th. Errol was there in a dual capacity as an entertainer to give a concert and also in his HDANI role of keeping in touch with developments and picking up ideas from our Scots cousins!

First up was a spell binding presentation from Charles Sabine, an Emmy-award winning TV journalist who worked for the US network, NBC News, for 26 years, before becoming a spokesman for patients and families suffering from Huntington’s disease. Coming hard on the heels of Ed Wild’s uplifting presentation at our own conference (Ed and Charles Sabine are friends and colleagues) it was so good to hear yet more positivity and messages of hope. Charles is himself gene positive and his presentation was entitled ‘Walking Out of the Shadow’... his message to families is that there is nothing to be gained by hiding in the shadow of HD and everything to be gained by confronting the reality of HD and bringing it into the open. He ‘walks the walk’ too as well as talking the talk… his life is a constant round of speaking engagements on behalf of HD at scientifi c research conferences and

international HD conferences right across the world… it tires me out just to imagine his travel schedule! We’re lucky in the UK to have such a respected and infl uential champion who can open so many doors in the media. I asked him what he thought we should be doing to play our part as an association and he answered…. “You’re already doing it… getting the message out there… the HD associations are the grass roots organisations that drive everything and the families embody an invaluable reservoir of knowledge and experience”

Errol and Susan also attended two workshops and presentations ‘Life in High Defi nition’ and ‘Out in the Open- Young and Living with HD’ later in the morning. The fi rst consisted of moving personal accounts of living with HD and the second was an equally moving presentation by a 19 year old who described her experience as a young person living with HD. As always, plenty of food for thought!

SHA Family Conference 2012 (Ayr, Scotland)

What The Board’s Been DoingYou will see elsewhere how the Board has been working hard on the Youth and Family Engagement Initiative! This has occupied a lot of our time; but we have also been working to keep our policies up to date (which is essential if we are to qualify for funding) and to identify good opportunities for funding for the work we want to undertake.

So we have prepared and submitted applications for the Media Fund (and won! Well done, Megan) and for the BBC’s Broadcast Appeals. We still haven’t heard the result of this, but we are hoping for a slot to coincide with Huntington’s Disease Awareness Week, in June next year.

We are now gearing up for a major effort to obtain secure, long term funding for the

Youth Project. Our aim is to make targeted applications to several major funders, so as to ensure we are not dependent on a single source for the money we need.

It will be very important that we are able to demonstrate that we are also fundraising through our own activities, to go alongside what we are asking for in grants. For example, some funders ask for “cost sharing”, or look for other evidence that we have independent means. So every penny in the penny jars really counts; every regular Gift Aided contribution adds another 20% from the taxman, and every other fundraising effort will make a really valuable contribution, in making strong case for HDANI, and for the Youth Project.

12

In February 2012, the Huntington’s Disease Youth Organization (‘HD-YO’) was founded with the aim of supporting and educating young people impacted by Huntington’s disease (HD) around the world. HDYO was created to fi ll a massive gap in the HD community with regards to youth support, which was recognised by many young people as a serious issue. It is fair to say that since launching in early 2012 HDYO has been an astounding success, providing a valuable tool to empower young people through knowledge and understanding, and making a real difference for many youth searching for answers and support.

HDYO’s website (www.hdyo.org) is split into 6 sections (kids, teens, young adults, parents, professionals and JHD) and contains a vast amount of educational information about HD created specifi cally for young people, which makes learning about HD interesting, understandable and relevant for young people. The success of the HDYO website is staggering, with the site being viewed over 200,000 times and HDYO’s educational sections being shared over 1,300 times (as of Nov 2012). But the website provides more than simply education… support is available too for young people and can be accessed by emailing HDYO directly, going on the HDYO forum and talking to other young people impacted by HD from around the world, or via our ‘ask a question’ section – which allows young people to send in their questions about HD and receive factually correct and supportive answers from HDYO’s team of HD professionals. Young people have long had a lack of access to appropriate support and education, but with HDYO’s emergence on to the scene there is now

Huntington’s Disease Youth Organization (HDYO):Breaking down barriers for young people

a place that young people can truly call their own – a place where young people are supported.

HDYO is making a huge impact and is breaking down barriers for young people in terms of accessing support and information. Since launching HDYO has received hundreds of emails, messages, questions and forum posts from young people all around the world eager for information, understanding, support and answers. Each of these young people has been supported appropriately and effectively by HDYO in what is a very supportive and positive environment for young people to share their concerns. With HDYO now available and providing avenues for young people to access support and information, we are on a large scale beginning to hear the voice of youth in the HD community whose concerns are now being heard and supported. The instant success of HDYO in its fi rst year highlights just how eager young people are to receive support, just like everybody else, and that if provided correctly, supporting young people can be done effectively.

What makes HDYO even more impressive is its structure… it is run by young people for young people. HDYO’s team consists of over 75 individuals from around the world who all volunteer their time and skills to help. This large HDYO team continues to grow quickly, as does the organization itself. Team HDYO consists of young people working together doing many roles. Some members manage the running of the organization, while others translate HDYO’s content so that it is available for young people everywhere to read, no matter what language they use. Currently HDYO’s website is available in 3 languages (English, German and Spanish), with several other languages such as Portuguese, Swedish, Polish, Italian, Dutch and Norwegian set to be launched in coming months. HDYO has

young people. HDYO’s team consists of over 75

around the world who all volunteer

skills to help. This large HDYO team continues to grow

together doing many roles. Some members manage the running of the

13

In MemoriamSherrard McConnell

Sherrard passed away peacefully at home on 31st July 2012 aged 75 years. At his own request, Sherrard’s body was donated to Queen’s University for medical research and teaching.

Although Sherrard suffered from both Huntington’s Disease and Prostate Cancer he lived a good and meaningful life and leaves us so much for which we are thankful.

Much loved and sadly missed by Jean and all the family.

In Loving Memory of Liam Brennan

26th Oct 1960 – 14th Nov 2012

Liam is the loving husband of Antoinette and loving father of John and Patrice.

He was a plumber by trade, a hard-working man and a good provider for his family.

Liam was a person of many talents, but is particularly well known as a skilled fi sherman and on

Sept. 17th 1995 in Port-na- Blagh waters, he set a new record by catching a ‘Torsk’ at a specimen weight of 10lbs 11ozs. Liam enjoyed his life to the full travelling through Donegal, Scotland and America enjoying the sport he loved… fi shing.

Liam will be sadly missed by his family and friends. Rest in peace.

an amazing team of empowered young people who share a keen desire to improve the support

available for other young people just like them.

HDYO’s success has led to huge backing and support from HD Associations around the

globe, with over 10 HD Associations now providing

offi cial support and fi nancial contributions to HDYO. These contributions allow the HDYO team to look ahead to 2013 and beyond, and assess how to provide even more support in the future

as HDYO wants to reach out to as many young people as possible who are impacted by HD around the world.

To summarize, HDYO has had a wonderful 2012 arriving on to the HD scene and receiving instant success and approval from all corners of the HD community. From its interactions with young people around the globe it is clear that HDYO has become a vital resource of information and support for young people impacted by HD, and with the support of many associations and organizations it is hoped that HDYO will continue to grow, expand and provide excellent support to young people for many years to come.

Matt EllisonHDYO Founder

available for other young people just like them.

HDYO’s success has led to huge backing and support from HD Associations around the

globe, with over 10 HD Associations now providing

offi cial support and fi nancial contributions to

14

Mapping the Neighbourhood:

http://en.hdbuzz.net/90 (Aug. 2012)

“Why haven’t we cured Huntington’s disease yet?

One reason is that after twenty years of study, scientists still don’t understand what the huge Huntingtin protein - mutated in HD patients - does. In a new study, the group of William Yang at UCLA has mapped the ‘neighbourhood’ of huntingtin to try and bring some clarity to this question. In the process, they’ve revealed dozens of new leads for drug development.”

High-power brain scans reveal sodium changes in HD: http://en.hdbuzz.net/91 (Aug. 2012)

“… measuring sodium levels could be the a good way to detect brain changes at their earliest stage…. the saltiness of the brain could become a biomarker of treatment response in HD.”

Lithium with a twist gets second chance for HD http://en.hdbuzz.net/92 (Sept. 2012)

As new safer dosing methods enter the drug development pipeline, and understanding of its biological effects have changed, scientists are revisiting the idea that Lithium, one of the most effective available treatments for serious mood disorders, may be capable of preventing or slowing neuro-degeneration in HD patients rather than treating existing symptoms. However, testing of long-term lithium treatment in humans does have the potential for serious side-effects. To overcome some of the current obstacles, a new lithium drug (NP03) has been developed alongside a new drug delivery system called Aonys®. The goal of any treatment is for the benefi ts to outweigh the risks. In an attempt to tip the balance, NP03 takes an old drug, already approved for use in humans, and simply aims to make it safer. If all goes well, it shouldn’t be long before extended low-dose lithium treatment is ready for testing in people with the HD mutation.

RESEARCH Shorts from HD BuzzEuro-HD Network Meeting in Stockholm Ed Wild and Jeff Carroll ran a daily commentary on the events for the HDbuzz website (amazingly Ed still had a seemingly bottomless well of energy for his presentation at our HDANI Conference only days later… or maybe he was still ‘buzzed’ from all the exciting research news there… if you’ll pardon the pun!)

They entitled their commentary “Eurobuzz News” and it’s well worth a read on their website which also includes videos on Ed and Jeff interviewing some of the research scientists who spoke at the Network Meeting. You’ll find a report of Matt Ellison’s presentation for HDYO in Stockholm too.

There’s just too much to cram into these few pages so I’ve listed the website URLs for each days report or video and you can have a look for yourself.

EuroBuzz News: Day 1 http://en.hdbuzz.net/94

EuroBuzz News: Day 2 http://en.hdbuzz.net/95

EuroBuzz News: Day 3 http://en.hdbuzz.net/96

EuroBuzz Video: Day 1 http://en.hdbuzz.net/97

EuroBuzz Video: Day 2 http://en.hdbuzz.net/98

‘Shooting the messenger’ with single-stranded RNA gene silencing

http://en.hdbuzz.net/99 (Sept. 2012)

“After huge leaps forward in recent years, we’re edging ever closer to human trials of huntingtin lowering or ‘gene silencing’ as a potential treatment for Huntington’s Disease.”

[To put it in the very simplest of terms] “Gene silencing drugs work by telling cells not to make the huntingtin protein, the cause of damage in Huntington’s disease. They do this by interfering with the cells’

15

protein-making systems”. [i.e. ‘shooting the messenger’]

So far, RNA-based gene silencing techniques have used double-stranded RNA molecules, called siRNA. But there are potential problems with double-stranded RNA for use in humans. Studies showed that siRNAs are safe and effective in mice and monkey animal models of Huntington’s disease, but scientists need to be really sure about safety before treating humans. One idea for reducing the risk of bad effects of RNA interference is to produce a stable single-stranded siRNA and scientists now think they may have achieved this potentially momentous step.

Researchers are also looking at using single-stranded siRNA in combination with stem cell research. Basically, they are working on taking skin cells from individuals with Huntington’s disease, and turning those skin cells into neurons. Those neurons could then be treated with single-stranded siRNAs to reduce the levels of harmful HD protein before transplanting them back into the brain.

[Recommend read this article in full]

Video: What’s new in Huntington’s disease research 2012 http://en.hdbuzz.net/100 (Sept. 2012)

The first 7-8 minutes of this video is introductory stuff aimed at the international Stockholm audience but after that it contains a lot of the information in the presentation that Ed Wild gave at our own Conference and is well worth watching a time or two! There’s so much to take in… but with the video you can break it up into sections that you can digest it at your own pace. It’s all wonderfully exciting stuff and brings a lot of hope for the future.

Interview: Alice and Nancy Wexler http://en.hdbuzz.net/101 (Oct 2012)

Deep brain stimulation for HD http://en.hdbuzz.net/102 (Oct 2012)

“A procedure in which miniature electrodes that release pulses of electricity are

implanted into the brain - successfully used in treating Parkinson’s disease patients, this treatment may prove useful for reducing symptoms of uncontrollable movement known as chorea in patients with HD. It’s important to remember that DBS will never cure HD, because it does not prevent brain cells from dying.”

Giving Huntington’s disease the finger? http://en.hdbuzz.net/103 (Nov 2012)

“Designing drugs that tell our cells to make less of the harmful mutant huntingtin protein is one of the most promising approaches to treating Huntington’s disease.” (A variation on ‘gene silencing’ that attacks the DNA instead of the RNA)

Illuminating fi ndings in blood cells from HD http://en.hdbuzz.net/104 (Nov 2012)

“With gene silencing therapies heading towards the clinic, a new question has arisen - how will we know if they work? How can we tell if the amount of huntingtin protein is lowered in people? New work from London and Basel demonstrates that the huntingtin protein is detectable in blood samples, and that its levels change during the course of HD.”

Fruit flies, faulty connections and Huntington’s disease http://en.hdbuzz.net/105 (Nov. 2012)

“A recent study in fruit flies identifies a new connection between synapses and HD”

N.B. Direct quotes are in parentheses… my synopses/comments are in italics

If you have no internet access, contact Errol 028 2177 1812 for a hard copy of these articles.

HDANI are delighted to announce that another child has been born in Tyrone as a result of Pre-Implantation Genetic Diagnosis which means that this child and its descendants will be free of the HD gene!

16

Belfast Support GroupTime: 2pm - 4pm

Syndicate 2’, 3rd Floor Grosvenor House, Glengall St, Belfast, BT12 5AD(beside the Europa Bus Centre - handy for train & bus!)

First Thursday in the month (except Jan/Feb and July/Aug)Contacts: Pat (028 9022 1950)

or Errol (028 2177 1812)

Armagh Support GroupTime: 7.30pm

Armagh City Hotel, Third Wednesday in the month (except Jan/Feb)Contacts: Rita (028 3752 6429)

or Sylvia (028 3833 8238)

Limavady Support GroupTime: 8pm

The Classic RestaurantMain St., Limavady

Every 4-6 weeks (ring for confi rmation)Contacts: Paula (028 7776 7664) or Errol (028 2177 1812)

Omagh Support GroupTime: 8pm

The Wave Centre18 Holmview Ave, Campsie, Omagh

Second Monday in the monthContacts: Megan or Rosetta

(028 8077 1649) or Errol (028 2177 1812)

Regional Support Group Information

24 hour “Listening Ear Service” Pat (028 9022 1950) and Errol (028 2177 1812)

Please note: If no-one is available to take your call pleaseleave a message and someone WILL get back to you ASAP

Huntington’s Disease Nurse Specialists, Belfast City Hospital Tel: 028 9504 7930