Spring 2014 newsletter by Sys HD

HUNTINGTON’S DISEASE ASSOCIATION NORTHERN IRELAND

Families at the heart of all that we do

HDANI Newsletter - Spring 2014

Families at the heart of all that we do

Newsletter printing is generously sponsored by NIE Staff and Pensioners Charity Fund Foreword from the Chair Dear members, friends and supporters, As out-going Chair, this will be my last foreword and I’m glad to say that we now have new Board members ready to take over the following offices. Jennifer Warnock is taking over as Chair in June; and she will be ably supported by Eleanor Kelly as Secretary, and Brendan Major as Treasurer. We are also engaging Tony Clarke, of Clarke and Co, as our company bookkeeper, so that we will be sure that we are keeping up with all the new legislation and requirements for Charities, which are in the pipeline. This is an important reassurance for the Board- we are responsible for making sure that HDANI operates in accordance with the law, and we need expert help in doing that. More generally, there are a lot of positive changes going on, which we must make sure are used to the benefit of all those affected by HD. For example, the focus on putting more resources into Care in the Community as part of the “Transforming Your Care” process must be to the advantage of those living with HD, whose care is very largely based in the community. The focus on research in the UK Government’s

Rare Disease Strategy must be to the advantage of those affected by HD, too. It should mean more support for HD research; better means of enabling people to participate in research; and getting the research translated quickly into treatments. But importantly for HDANI, we have clarity around where we can make a difference- what our own focus should be as an Association. That is, on support for families affected by HD; and especially on support for young people and young families. This is the part of the Association’s work that no other body can do, providing accurate information, giving time and space for people with HD to learn what it means, and techniques for coping; breaking down the isolation and stigma; and building for the future. This is an exciting time of change for HDANI- a new generation is taking over the helm; I’m confident that they will lead the Association with imagination, determination and commitment, and Marilyn, Grace, David and I wish the whole Association the very best for the future!

Christine Collins (Chair)

Contact: Member Services and Newsletter: Errol Walsh Tel: 028 2177 1812 Email: errol@hdani.org.uk Telephone Support Service: Pat McKay Tel: 028 90221950 and Errol Walsh Tel: 028 21771812 Youth 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

Farewell and Thank You to Marilyn Kerr Marilyn Kerr has been living with Huntington’s disease for forty years. For most of that time Marilyn has been involved with HDANI as a loyal member, Treasurer, and latterly as Chair of the Association. She was at the very first meeting in the 1970’s in the Town Hall in Lisburn… a meeting that was packed with people looking for information, help and support for themselves or their loved ones. The one message that they wanted to hear, that there was a cure or an effective treatment for HD, was sadly not forthcoming and the numbers who attended that first meeting dropped off dramatically. We can only speculate as to why that was, but a perfectly understandable disappointment and sense of hopelessness must surely be one of the reasons…. there’s nothing to be done so what’s the point? However, there was a core of people who felt that, if nothing else, they needed the support of each other… and that together they could perhaps make a difference to their own lives and those of their families if they spoke with one voice and worked towards recognition of the impact of Huntington’s and the lack of available services for those living with it. Another likely factor is the huge shadow of stigma that has traditionally hung over HD,

and still does to a significant extent today. Just recently John Eden, CEO of Scottish Huntington’s Association was quoted as saying “The stigma and fear that surround HD can do almost as much harm to the individuals and families who live with this condition as the condition itself… and that must change.” For Marilyn Kerr and those like her who have struggled throughout their lives to provide comfort and hope for others, it has been a tough, at times harrowing, but often uplifting emotional journey. In recent years, as a reward for their dedication and forbearance, Marilyn and others have seen huge changes in public awareness and perception and real medical hope for the future emerge. So it is with great sadness and love that we offer our sincere thanks to Marilyn for her hard work over the years and her long, unstinting and loyal service to the Association as she enters her retirement.

Outgoing board members: HDANI would also like to offer our sincere gratitude to our other three outgoing board members, CHRISTINE COLLINS, GRACE HENRY and DAVID FINEGAN for their long, committed service and invaluable contributions to the development of HDANI. Thank you all for the sterling work you have done in bringing us to our present position and for helping to ensure and secure a smooth transition!

HDANI Summer Camp 2014: It’s been a long time coming but finally we’re running our very own HDANI summer camp for young people between the ages of 12-30! First thing to say is a HUGE thank you to Scottish Huntington’s Association who have been offering places to our young people at their annual Scottish summer camp since 2008!! Without SHA we would never have learned to appreciate the extremely high value of this kind of peer support and built up the impetus and ambition to consider running our own camp… So, many thanks to John Eden and his youth team at SHA!

Secondly, a BIG thank you to Cat Martin and Matt Ellison of Huntington’s Disease Youth Organisation (HDYO) who will be providing the experience to co-ordinate and facilitate the camp programmes. Both Cat & Matt have earned the utmost respect from working closely with our young people here in Ireland through their contributions to our fledgling youth programme… not to mention their wider global work through HDYO http://en.hdyo. org/ which offers the ultimate online support experience and resource for young people living with HD… and their families and health

professionals… there are age-appropriate sections on their website for all the family. So… This year’s residential camp is for young people between age 12-30 who are living with Huntington’s disease and it will take place at The Share Village, http://www.sharevillage. org/ (an outdoor activities and adventure centre in Lisnaskea, near Enniskillen) from Fri July 11th to Mon. July 14th (3 overnight stays Fri, Sat & Sun). We hope to be joined by some

young people from HDAI as well. This will be a wonderful opportunity for young people living with HD to spend some social time with their peers, enjoy a variety of fun activities and take part in educational workshops, build lasting relationships and learn some valuable team-building skills. The first of many we hope!

“Join Together for Better Care” Joint North-South Rare Disease Day Conference 2014 This year’s International Rare Disease Day event in Ireland took the form of a Joint North South Conference, held in Riddel Hall, Queen’s University, Belfast. Organised by the Northern Ireland Rare Disease Partnership, (which HDANI was instrumental in founding, three years ago) the Conference was attended by Minister Poots, and by Minister Alex White from the Department of Health in the south; by eminent clinicians and researchers; and most importantly by well over 200 patients and family members, and their organizations. Errol was there, flying the flag for HDANI. A packed day opened (after the all important tea/coffee and lovely scones) with keynote presentations by the Ministers, on the National Rare Disease Plans. It was heartening to see their commitment and political will to tackle the challenges of rare diseases; and to work together across the border to improve care for those affected by rare diseases. This was followed by presentations and discussions on the subject of the next steps in cross border collaboration, where Professor Treacy, the newly appointed Rare Disease Clinical Lead for the Republic, spoke of the need to look to see how we can get high quality, expert treatment accessible in Ireland, rather than expect families to travel to England; Professor Dolk from the University of Ulster spoke of the need to establish Registries for Rare Diseases, not only to support research but also to support planning for services and treatment; and how these have to be internationally linked; and Katie Murphy, who lives with Cystic Fibrosis, described her own experience of being able

to participate in the trials for life changing drug treatment, because Ireland’s Register of CF sufferers led to it being selected for these vital trials. There was moving testimony from those present about the need for information and support, especially across borders; and the devastation, which can result from isolation and poor information. After a delicious lunch, and a lot of invaluable networking amongst all those present, Alison Wilson from the MPS Society led a session looking at good examples of “Joining Together for Better Care”. This included inspirational presentations from the Max Appeal and 22q Deletion Support Groups: where parents from across the whole of the UK and Ireland got together and provide support, through websites, Facebook groups, and local support groups to families with this rare condition; and from Michael Holden who has Motor Neurone Disease, and is largely confined to a wheelchair, but who is determined to “make a difference” and not to be defined by his “disability” but by his achievements. Overall, it was an amazing event: those attending, including senior officials and academics from across Ireland, said it was an international class event- one person said it was the best Conference he had attended, in 8 years of attending Rare Disease events!

Christine Collins

Volunteering for HDANI: To date HDANI has had a fairly informal volunteer structure in that members, and occasionally external supporters, have independently run various fundraising/awareness events in support of our work. We have offered whatever resources we could to help support these volunteers with their efforts but our resources did not stretch to managing a properly structured volunteer programme.

in our work please contact either Susan Mallon at Susan.hdani@gmail.com (Tel: 07754301241) or Errol at errol@hdani.org.uk (Tel: 028 2177 1812).

This has now changed with a generous offer from one of our professional members to step forward and become our “volunteer co-ordinator” in order to help structure and run a more organised and effective volunteer programme. This is quite a weighty undertaking requiring considerable commitment and, in fact, is often a salaried post in larger and better resourced charities. So we are extremely grateful to Susan Mallon from Bangor who is willing to undertake this responsibility on our behalf. Susan is a registered nurse whose considerable experience in caring for HD patients in Stewart Memorial Nursing Home in Bangor inspired her to volunteer on behalf of our Huntington’s community in N. Ireland.

Huntington’s Disease Awareness Week (June 9th -15th)

We also have the support of ‘Volunteer Now’ in helping Susan and HDANI prepare for this important role and providing us with access to accredited training and ongoing one-to-one support from a Volunteer Now officer. Initially the programme structure will centre around fundraising and awareness events and campaigns but, as our expertise grows, we hope to branch out into other volunteer areas such as ‘befriending’ and perhaps other family support roles to focus our work more on the ethos of HDANI which is best expressed in our motto “Families at the heart of all that we do”. The volunteer programme is not intended to be centred solely in the Belfast area…. and again, as our expertise and resources develop, we want to expand the programme right across the country to link up with our regional support groups and create a meaningful network of support for all HD families. We are looking both within and outside of HDANI for volunteers to register with us so that we can match their skills and availability to the volunteering needs in your area… so please, if you (and/or your friends/work colleagues) feel you have the time and the commitment to help us

We won’t expect any more from you than you are willing or able to give… but we’d be most grateful for your support! To pinch a phrase from Tesco’s “every little helps!”

It’s an opportunity to do ‘exactly what it says on the tin’ and raise awareness of Huntington’s across N. Ireland. It also makes perfect sense to combine awareness-raising with fundraising by creating events that will catch the imagination of local media and grab some attention in the press and/or local radio and attract funding to support the work of HDANI. So, are you a young entrepreneur?... or even a mature entrepreneur?! Can you organise an exciting fundraising event for awareness week in your area? How about a Fancy Dress Ball? GAA or soccer match? Fashion show? Cycle Race? Mini marathon? Dance/concert? Sponsored Walk? DJ nite? (I know an up and coming young DJ in the Limavady area!! Come on F. McE! How cool would that be?) Anything that we can interest the press and/or local radio in? It’s not long until June so get your thinking caps on! Contact Errol with your ideas 028 21771812…

Lough Erne ‘Skiathlon’ Ashley Clarke, one of our enthusiastic young volunteers from Enniskillen, is organising a fundraising “SKIATHLON” on Lough Erne along with her brother Ryan and other family and friends to help raise awareness of Huntington’s in their area… the event

will take place on either Sat 7th or Sat 14th (to be confirmed)….. details to follow on our website…. www.hdani.org.uk

Lap the Lough

You’ll find four links below: for general information, how to fundraise, how to register for the event and you’ll also find us registered with Virgin Money Giving where you can raise sponsorship online. We could really use your help!!!

The 9th “Lap the Lough” cycle event around Lough Neagh is on 24th August.

general info: http://www.lapthelough.org/ how to fundraise: http://www.lapthelough. org/index.php/site/fundraise/

It’s a not-for-profit event where you can raise money for your favourite charity..

How to register http://www.lapthelough.org/ index.php/site/register/

If you’d like to help raise funds for Huntington’s Disease Association Northern Ireland please sign up!

How to raise sponsorship online http://uk.virginmoneygiving.com/giving/

Why not get up a posse of your friends, colleagues, and other cycling buddies and make a day of it?

Donations and Fundraising – 1st December 2013 – 31st March 2014 Donations IMO the late P Smyth – J Kearney - £40.00

Multiple Donations via Virgin Money Giving - £288.06

Penny Jars

Events

S Cooke - £95.79

J Moon - £332.50

C Loughlin - £36.40

J Byrne - £2,055.00

N Alberts - £11.04

Collection Boxes

M Kerr - £11.89

D Farry, Omagh - £100.00

Pin and Writband Sales

IMO the late M Hanna - £10.00 Marks & Spencer PLC – (match funding) - £2,000.00 Black Santa Sitout , Belfast Cathedral - £800.00

Delite, Hillsborough - £28.56

Belfast Support Group - £21.00

Jean c/o I Haywood - £20.00 I Haywood - £10.51 E Neeson - £81.00 E Newman - £13.40 C Bloomer - £5.00

Training DVD Sales Multiple sales - £60.00

We are also looking forward to a bumper donation in April when Marks & Spencer’s Abbey Centre Branch present us with the fruits of their efforts over the past ﬁnancial year!! Many thanks to all involved! (Details in next issue)

In Memorium Michelle Hanna (Aged 47)

Stewart Kerr (Aged 70)

Oct 24th 1966 â&#x20AC;&#x201C; Nov. 26th 2013

Born 12th October 1943 Passed Away 26th March 2014

Michelle was one of five children. She passed away peacefully in the Ulster Hospital, Dundonald after several years of excellent care in Stewart Memorial Nursing Home in Bangor.

Beloved and devoted husband of Jean Dear brother of the late Geoffrey Brother-in-law of Marilyn Lovingly remembered by his sorrowing wife, family circle and his many friends

Michelle leaves behind a family of three boys and two girls.

Trip-Ability.com Trip-Ability.com was founded by a local businessman Michael Holden, who became wheelchair bound in 2010. Michael was astounded at the poor treatment of the disabled community by the services sector across the world. Trip-Ability.com is dedicated to providing a platform for the community of people with disabilities to review their experiences and pass on useful knowledge to others in a similar situation so that all can enjoy a fullness of life with family and friends without the embarrassment of being turned away or not gaining entry into particular establishments. Trip-Ability.com is a website that relies on the personal experiences of everyone, disabled, carers and the able bodied. Going on holiday, shopping, out for a meal, going to the cinema, using public transport or even out for a coffee can sometimes be an experience that you want to forget. Inaccessible doorways, street furniture, lack of toilets, high counters in shops are just some of what a disabled person has to deal with on a daily basis. Information on such issues shared on Trip-Ability.com will become priceless information to others. Trip-Ability.com also offers a platform for a variety of disability products to be reviewed.

On the website at present we have products such as ice blades for wheelchair ice skating and safe travel beds with soft walls and a soft floor to make holidaying away much easier. Other very useful products are the Tramper which enables people with poor mobility to enjoy the great outdoors on many country paths that are otherwise inaccessible. For all those with sporting and concert interests many stadia and arenas have been reviewed. Most venues across the world have all been refurbished or even totally rebuilt offering great facilities for those with disabilities. We are always interested in new stadium reviews being added especially as major upcoming sporting events are football and rugby World Cups, the Commonwealth Games as well as usual annual events. Also on the website you will be able to read some very interesting blogs on a variety of topics. Michael writes most of the blogs himself and bases many of them on personal experiences that he comes across on a daily basis. Some examples are, What it is like being a disabled tourist in London and How taxi companies are discriminating against the disabled. Occasionally there would be guest blogs or personal accounts from people living throughout the world. We are

always willing to write about or post blogs on issues that people feel strongly about. Trip-Ability.com is growing on a daily basis and it is our intention to make people all around the world aware of the website so that we can supply much needed information to others. Please do review your own personal experiences, good or bad, as we would love to hear them. Please contact us on www.trip-ability.com. You can also follow us on Facebook and Twitter.

Also at the moment Trip-Ability.com are hosting Disability Pride 2014 in Belfast on Saturday 20th September. This is a family fun day with a variety of charities parading through the streets of Belfast finishing up in the grounds of the City Hall were a concert area and retail village will be in place. For full details and up to date information please visit our website www.disabilitypride.co.uk. Again you can follow Disability Pride on Facebook and Twitter.

Shooting for the Stars!! Sometime in late March-early April 2014 a group of Californian scientists are sending quantities of the HD protein (Huntingtin) to the International Space Station (ISS). Their purpose is to use the micro gravity of the ISS to crystalise Huntingtin and then return it to earth where lasers will be fired into it in order to map its chemical structure. This approach has been used to develop treatments for HIV and the hope is that by understanding the molecular map of Huntingtin the same outcome will be achieved for HD. This exciting experiment inspired Scottish Huntington’s Association with the idea of “HD STAR” in which SHA will launch a weather balloon into space loaded with messages from the HD community and wider stakeholder groups to ‘explode’ at its zenith and after travelling hundreds or even thousands of miles will fall back down to earth – quite literally spreading awareness! From high altitude the messages could potentially travel great distances depending on the weather conditions. SHA plan to include a number of silver strips in the payload with find and return information on them. Each strip will be numbered and linked to a sponsored prize to encourage finders to contact SHA so that they can measure exactly how far away this amazing awareness project reaches! This will be possible because smartphones can access a web site that will track the location of the balloon as it returns to Earth. The payload will include a camera and GPS tracking package so the camera will record the entire four hour voyage and will potentially

produce some spectacular shots and footage in which you can clearly see the curvature of the Earth! They also plan to capture the moment of the explosion and dispersal of the messages giving them unique video assets to share on Facebook and Twitter and on their web site. The GPS tracker will enable them to recover the payload after it falls back down to Earth (assisted by a parachute). One of the most exciting aspects of this project is that there may be an opportunity to engage with the astronauts on the ISS. They are renowned for using social media and SHA have a possible link through friends in HD Buzz to the research team and then to the astronauts. If they can succeed in engaging them the awareness raising potential of this project will literally be ‘out of this world’! Read more about the Huntingtin gene being set up into space at http://en.hdbuzz.net/142! Follow the SHA event on their page at www.facebook.com/ ScottishHuntingtonsAssociation and/or go to http://www.hdstarscotland.org/ for further information and find out how to send your own message into space!

HDANI training for medical professionals: “HD featured in the Medical Undergraduate Training Programme at Queen’s when Sarah Louise gave a thought provoking and inspiring presentation on living with HD; and on the “Joining Together” of young people throughout the world to provide accurate reliable information and support. The Medical Students (well over 150 First Years) listened intently; applauded; and at the end a group approached Sarah Louise to ask if they could support HDYO in their forthcoming run in the Belfast Marathon. As one of them said “That’s just such a good cause- we want to be part of it!” So well done, Sarah Lou!

My Healthcare Passport In 2011, the Royal College of General Practitioners NI (RCGPNI) was commissioned by the Public Health Agency NI to create a tool for patients with progressive, life-limiting illness, and their families and carers, which would improve the collection, availability and reliability of clinical information associated with patients… especially around End of Life Care. Dr Ainé Abbott was appointed as Clinical Lead for the project. During the development process of this passport it was realised that the project reaches beyond the scope of End of Life care and into general care for all patients with progressive life limiting illness, their families and carers. It was recognised that patients, families and carers can often feel overwhelmed by the amount of information and the number of healthcare professionals they come into contact with throughout the healthcare journey. Some patients have communication issues due to their condition and detailing their medical history can be difficult and frustrating. This tool was specifically developed to help alleviate these problems. On January 22nd 2014, “What I Need You to Know:” (A Health and Care Record for

Me, My Family and Carers) was launched at the Malone Lodge Hotel in Belfast. The development and design involved those living with medical conditions, carers, patient advocate groups and other interested parties alongside a range of health and social care professional representatives. This relatively simple, yet effective tool will allow users to share information ranging from their core values and daily routine, to who their healthcare team is and where to access useful resources about their condition. To find out more about the My Healthcare Passport online go to: http://www.rcgp.org. uk/rcgp-near-you/rcgpnorthern-ireland/myhealthcare-passport. aspx or contact Catherine Tumelty at catherine. tumelty@rcgp.org. uk or telephone 020 3188 7722.

Awareness-raising for neurological conditions: “The Neurological Conditions Reference Group, made up of carers and other advocates of patients with neurological conditions have prompted the PHA (Public Health Agency) to develop a programme of awareness-raising of neurological conditions for health services and other public bodies. As part of this a production team visited the Neurology Unit at Musgrave Park to record a short video at the end of March. The team met and “interviewed” a number of carers and a couple of

ENROLL-HD

Speaking at the Scottish Huntington’s Association annual family conference in 2013 one of the world’s leading HD researchers, Professor Bernhard Landwehrmeyer, CEO of the European Huntington’s Disease Network said they are looking for 25,000 people across the globe impacted in some way by HD to sign up for a new research project called Enroll-HD. Over 10,000 people have already been recruited. “We are looking for people to get involved in all aspects of HD research. These volunteers can get involved as much or a little as they want, but what we need to do is pull together a pool of people willing to get involved, not at the clinical stage studies, but behavioural and social research,” he said. Professor Landwehrmeyer added: “The more we know about how HD impacts on all aspects of daily life the closer we will be to finding more effective treatments and eventually a cure. Anyone touched by the condition, whether friends and family, care professionals or clinicians are all welcome to get involved.” What is Enroll-HD? It is a global observational study of Huntington’s disease which collects a common set of data for all participants across all sites around the world. It will also collect blood samples for DNA and cell lines. The Enroll-HD project is being run by US based foundation CHDI which is investing millions into finding effective treatments for HD. It will be the largest rare disease research project in the world. All data and samples will be available to share with researchers to answer important questions about

patients and staff members on camera, including Errol, who was able to give important perspectives on HD. The team are going to follow-up with visits to the homes of some of the carers and patients interviewed, such that their experiences in the community can be adequately reflected. They also plan a further visit to the Neurology Unit at Musgrave in order to capture staff/patient-carer interactions on camera.” Dr. Gavin McDonnell

Huntington’s. When it comes to studying a disease that progresses slowly, like HD, there is strength in numbers. Studying many patients repeatedly over several years can give powerful insights that can’t be gained through other research techniques. That’s why two of the largest observational studies, COHORT and REGISTRY are joining forces to form ENROLL-HD; the world’s largest ever study of HD patients. The new study, ENROLL-HD, is a merger of COHORT and REGISTRY, and will result in an even larger database of information for scientists to study. Enroll-HD will help the research community by: Providing clinical data and biological samples to help better understand the human biology of Huntington’s disease and determining what interventions work to improve the care of people with HD. This will enable them to develop better, smarter clinical trials and recruit clinical trial participants. The Goals of Enroll-HD is to: Enable clinical research; achieve a better understanding of Huntington’s disease; and improve clinical care. HDANI had been trying for some time, unfortunately unsuccessfully, to encourage the setting up of a REGISTRY clinic in N. Ireland but, as you can see from the information above, REGISTRY is now rolling out into a wider study called ENROLL. The good news is that, while not ideal in terms of travel distance for potential N. Ireland participants, there are serious efforts being made down south to establish ENROLL study sites at Beaumont (Dublin) and Galway hospitals.

HD Buzz Shorts: http://en.hdbuzz.net/ DNA shutdown proteins in Huntington’s disease: More than meets the eye http://en.hdbuzz.net/152 How research into one specific aspect of DNA led to another potentially useful, but entirely different, discovery.

Is a new Huntington’s Disease drug study on the right Trk?

http://en.hdbuzz.net/153 A recent HD animal study reveals that a small molecule drug could be an effective “Trk” to target for HD therapeutics

Could a ‘brain shuttle’ get Huntington’s disease drugs to where they’re needed? http://en.hdbuzz.net/154 The brain is very choosy about what chemicals it lets in from the blood stream. Very few substances are on the brain’s VIP guest list. Roche’s ‘brain shuttle’ sneaks drugs past the blood-brain barrier. Could it work for HD gene silencing drugs?

Joint HDBuzz Prizewinner: Pennies for your neurons — copper’s bad inﬂuence on Huntington’s disease http://en.hdbuzz.net/155 There is copper in your brain! Check out how copper and the Huntington’s disease protein are partners in crime.

Joint HDBuzz Prizewinner: Yeast studies suggest a new way to protect cells from ‘oxidative damage’ http://en.hdbuzz.net/156 Researchers identify Gpx1, a protein that may be protective in HD. An existing drug can mimic its antioxidant effect.

Does high-dose creatine “slow the onset” of Huntington’s Disease?

http://en.hdbuzz.net/157 A new study claims that high-dose creatine “slows the onset of Huntington Disease”. How much hope and how much hype?

Prana announces results of Reach2HD trial of PBT2 for Huntington’s disease http://en.hdbuzz.net/158 Results are in for a clinical trial testing the drug PBT2 for HD. Are the claims in the announcement justified?

HDBuzz reports from the science sessions at the 2014 HD Therapeutics Conference in Palm Springs. Huntington’s Disease Therapeutics Conference 2014: day 1 http://en.hdbuzz.net/159

Huntington’s Disease Therapeutics Conference 2014: day 2 http://en.hdbuzz.net/160

Huntington’s Disease Therapeutics Conference 2014: day 3 http://en.hdbuzz.net/161

Sleep, cilia and HD

http://en.hdbuzz.net/162 New studies shed some light on the function of sleep in animals, with interesting implications for HD research. Studies have shown that HD patients tend to get less efficient sleep, fewer hours of sleep, and wake up more times during the night. However, sleep in Huntington’s is under-researched because historically scientists have investigated HD as a disease of movement impairment, and sleep problems don’t seem to have anything to do with movement impairment. Huntington’s disease clearly involves more of the brain than just structures involved with movement. It now appears that sleep — that evolutionarily dubious activity that takes up one third of our lives — may come into play in important ways. It’s well known that sleep is indispensable to health and well-being, that with minor sleep deprivation, mood, reasoning ability, and learning suffer; with moderate sleep deprivation, our immune systems are less effective and even our hormones go out of whack. In HD, sleep deprivation may have an even more potent effect. Sleep may be protective in HD Some symptoms of HD, like thinking impairment and clumsiness, look a bit like symptoms of chronic sleep deprivation. Scientists now believe that sleep deprivation commonly occurs in HD, hidden among other symptoms, and possibly acting in the progression of the disease.

So far there have been no systematic studies to determine whether sleep deprivation is the cause of any HD symptoms. This is an exciting area of

study because if dysfunctional sleep is indeed the cause of some HD symptoms, it becomes a strong contender to be the focus of a treatment.

What the Board has been doing The Board has been going through a process of change and renewal over the last few months, with some Directors standing down, and others joining the Board. So it has been a busy time as the new Directors learn the ropes, ready to take over! Our new Board will be in place after the June Board Meeting; with Jennifer Warnock taking over as Chair, Eleanor Kelly as Secretary, and Brendan Major as Hon. Treasurer; and Marilyn, Christine, Grace and David all standing down.

especially on developing and implementing the Youth Programme. A key priority for the new Board will be to obtain the funding for this post, and for the Youth Programme. Thanks to Errol’s hard work we have several avenues that we are pursuing; and we are hopeful that some of these will prove fruitful!

Christine Collins

We are working (with help from SDC Limited) to put together a Business Case for a manager for HDANI- someone to support the Board in doing the ever increasing amount of admin needed to keep us functioning as an organisation, and to take forward and build on all the work which has been done over the past 4 or more years, most

“Living Every Day with a Rare Disease” This was an event run by the Northern Ireland Rare Disease Partnership (NIRDP) in the Long Gallery in Stormont on January 13th. It was a great success with representatives of over 20 rare diseases in attendance along with a number of interested politicians. Speakers included Dr Fiona Stewart MBE, Simon Hamilton MLA, Michael Holden, Michelle Tennyson from the Public Health Agency and our own HDANI Chair Christine Collins (also Chair of NIRDP). Michael Holden’s talk from a patient’s perspective was powerful and articulate.. truly inspirational! Michael has Motor Neurone disease… he took full advantage of his opportunity to speak directly to elected representatives and threw out a challenge to the Assembly to step up and recognise rare disease issues saying “What is the point of being fit for the world if society excludes us?” He directly challenged access to public services and the built environment in particular pointing out that there is so still much

to be done in providing genuine access for people with disabilities. It was also music to the ears to hear Michelle Tennyson from the Public Health Agency make a firm commitment to address social care issues for rare diseases saying that “Every experience matters!”

Errol networking with Sinn Fein MLAs Michaela Boyle and Mitchell McLoughlin

Regional Support Group Information Belfast Support Group Time: 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 Group Time: 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 Group Time: 8pm Venue rotates between member’s homes Every 4-6 weeks (ring for confirmation) Contacts: Paula (028 7776 7664) or Errol (028 2177 1812)

Omagh Support Group Time: 8pm

The Wave Centre 18 Holmview Ave, Campsie, Omagh Second Monday in the month (except Jan/Feb and July/Aug) Contacts: Moira (028 8164 8717) or Errol (028 2177 1812)

24 hour “Telephone Support Service” Pat (028 9022 1950) and Errol (028 2177 1812) Please note: If no-one is available to take your call please leave a message and someone WILL get back to you ASAP

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