the Ataxian The magazine for people affected by ataxia Ataxia in prison Saving energy Doctors’ Q & A Big Bad Bike Ride Seventy-five thousand reasons to smile! Issue 184, winter 2013 What’s inside Pariticpants in this year’s Big Bad Bike Ride (page 10). Issue 184, winter 2013 Update Branches Research Fundraising Health Services Sue’s welcome; Meanwhile in the Office; staff contacts............... The audio Ataxian; Unseen Stars; Network Chat.......................... Three new projects and promising results for kids & for SCA7..... Thank you, Boots on Tour; Cycling Doctors; IAAD around the UK Doctors’ Q&A; Genetic Alliance’s new medicines survey............ Ataxia care in prison; Bright energy- and money-saving ideas..... 3 4 6 10 14 16 Adapting to life Aids and equipment for living with ataxia, by Matthew Law.......... 18 Opportunities Cornberg Grants & Jerry Farr Fellowship closing dates............... 19 In memoriam ....................................................................................................... 20 FEEDBACK Please help us to improve the Ataxian by completing a short online survey about the current issue of the magazine. You can find the survey at: www.surveymonkey.com/s/ataxian184. CONTACT US We welcome your stories, pictures, letters and articles for the Ataxian. If you would like to send something in, feel free to get in touch with us at the office for more details. If you would prefer a large print, audio or email version of the Ataxian, do contact the office to let us know. Subscribing to the email version of the magazine helps to reduce our printing costs. For support or information about ataxia, please visit www.ataxia.org.uk or contact the Helpline. OFFICE Phone Email Fax Address HELPLINE 020 7582 1444 [email protected] 020 7582 9444 Ataxia UK Lincoln House Kennington Park 1-3 Brixton Road London SW9 6DE Phone Email 0845 644 0606 [email protected] The helpline is open at the following times: Mon-Thurs 10.30am—2.30pm Friday Closed Disclaimer We have made every effort to ensure that the information in the Ataxian is up-to-date and accurate. We hope that any advice given will complement any professional advice you receive. Please do continue to talk to your health- and social care team, or contact our helpline if you are worried about any aspect of living with ataxia. © Ataxia UK 2013. If you would like to reproduce any content from the Ataxian, please contact the office. MEANWHILE, IN THE OFFICE... After last issue’s goodbyes, we’re very pleased to be able to welcome a few new faces to the team. Louise Alexander has extensive experience of third sector accounting and joined us as Finance Manager in September. Julie Vallortigara is our new Research Officer, joining us following her postdoctoral research at King’s College London on dementia. Now we have two Julies! We have also had the benefit of two cracking interns, both of whom started in September. Alice Tobin has been working between the Fundraising & Communications and Research teams, while Altan Suleyman joined the Administration team. Many thanks for all your help and hard work! Ataxia UK staff Administration [email protected] [email protected] Ÿ Hannah Tipple – Office Coordinator Ÿ Louise Alexander – Finance Manager Ÿ Sue Millman – Chief Executive Branch Support and Development [email protected] [email protected] Ÿ Sheila Benneyworth – Helpline & Membership Officer Ÿ Tina Thatcher – Branch Development Manager Fundraising and Communications [email protected] [email protected] [email protected] Ÿ Ade Deane-Pratt – Comms & Confs Coordinator Ÿ Izabela Seabrook – Fundraising & Comms Manager Ÿ John Williams – Development Manager Ÿ Madison Bridgewater – Fundraising & Events Coordinator Helpline and Advocacy Services [email protected] [email protected] Ÿ Lyn Smith – Helpline & Advocacy Services Manager Research [email protected] Ÿ Dr Julie Greenfield – Research Projects Manager Ÿ Dr Julie Vallortigara – Research Officer Update Welcome W elcome to issue 184 of the Ataxian–the last of 2013. For many, it will have been a difficult year. Certainly at Ataxia UK we have needed to strive ever harder to keep the funds coming in, given a general climate of financial hardship. However, we have had some great successes, for example with the Big Bad Bike Ride (on the cover and on page 10). Our fundraisers’ hard work and enthusiasm mean that we can take a very positive outlook, and I’m really looking forward to ramping up our activities throughout 2014 as we prepare for the charity’s 50th anniversary activities in 2015. The 2013 Christmas Appeal has been mailed and I cannot stress enough how much we need your continued support this year to ensure we can keep providing our much needed services. Every penny really does count, so if you want to make a difference, have cash to spare and haven’t already posted your donation, please do so as soon as possible using the envelope provided in the mailing. Thank you so much to everyone who is able to help us. I hope you will be as interested as I have been to read the two interviews in this issue, with Anne Hall, mother of Daniel Roque-Hall (page 16) and with ex audio Ataxian producer Peter Gibson-Suter, as he steps down (page 4). I feel very strongly that people with ataxia should receive appropriate care, whatever their coircumstances. And I would like to extend my warm thanks and appreciation to Peter for his kind work. Our expert panellists address a new set of health concerns in the Doctors’ Q&A on page 14, while Matthew Law’s A-Z of adaptations (page 18) tackles some more of the practical aspects to living with ataxia. The research pages are particularly full of promise, with some of the less investigated aspects of ataxia receiving attention, for example in our new project to develop hearing aids (page 6). And there’s a reminder to start thinking about your Jerry Farr application, together with the next Cornberg closing dates on page 19. I do hope that you will have a relaxing and enjoyable festive season. The energy-saving tips on page 17 should help keep you warm and safe. Look out for the office Christmas video on the Ataxia UK Facebook page; it’s great fun. Do also tune in to Wobbly TV if you can: you’ll be able to find our new monthly series of short videos about living with ataxia on the website throughout the year and can read all about the project–made possible with generous support from The Tudor Trust–in the next edition of the magazine. Very best wishes 3 Branches Let’s hear it for Peter! F or many moons, the audio version of the Ataxian magazine has been produced by our Friend Peter Gibson-Suter. He has done a sterling job of making the magazine accesible for some of our visually impaired subscribers. As he steps down from the role, we thought it would be great to speak to him about the experience. And most of all we want to say a tremendous thank you to Peter, for all his time, effort and care. When did you start recording the audio Ataxian? Seven years ago I took over from Peter Cordwell whose ataxia was becoming too advanced for him to carry on. He set a very high standard of recording. I knew it would take some time to achieve his level of expertise but I was determined to do so. Do you have a particular interest in sound recording and production? No, but I spent some time with "newspapers for the blind" and saw how they operated and adapted some their techniques for the Ataxian on tape. Auto Reverse Cassette Deck (which we still have; if anyone would have a use for it please let me know). What equipment did you use? The equipment used was a TEAC W-860R Double Who were the people who did the readings? A group of close friends who happily volunteered to Annual Conference meet Tina tells us: We held a Branch and support group officers’ meeting on the Friday evening of conference which was very well attended. We discussed raising awareness of ataxia, both as individuals and as a group. Lots of ideas were put forward and a fact sheet was put together which Tina at the Annual was emailed to all Conference meet Branches and support groups. We hope you find it useful - let us know how you get on. Volunteers needed Sometimes, and for various reasons, we find that the amazing volunteers who run our groups and Branches are unable to do it anymore. So we are now looking for some more amazing volunteers to take forward the following groups: 4 Peter Gibson-Suter Ÿ Holmfirth and Huddersfield, Nottingham, South Cheshire, Tamworth, Shropshire, Brighton, Doncaster, Norwich and Plymouth. If you are interested, please get in touch with Tina (details below), who will support you in the role. New support groups and Branches Ÿ Ataxia UK Tunbridge Wells Branch Tunbridge Wells had their second meeting in November and are looking forward to lots of social and fundraising events. Ÿ We have new support groups at Oval and Barnet in London, and in Gateshead. Ÿ Coming soon: new groups at Hereford and Cannock Setting up a group Don’t forget, if you’re interested in setting up a group in your area, you can contact Branch Development Manager, Tina Thatcher on 01785 822 322 or [email protected] Branches help with very little arm twisting! After a nervous start they soon came to enjoy the readings. We tried to make the recording a social occasion which ended up adding at least two hours over and above the time it took for the reading. What did you get out of doing it? A lot of hard work. In the beginning hilarity reigned, what with me pressing the wrong buttons on the recording equipment and the readers mispronouncing unusual words, the recording dissolved into a riot of fun and laughter but we soldiered on. All enjoyed the experience and looked forward to the next issue. Why did you choose the Liberty Bell March by Sousa for the theme tune? That was an idea from "newspapers for the blind" who were of the opinion that it was important to give the recording an identity and music was the most effective vehicle. I wanted some music which was easy to listen to, was memorable and brought a smile to the face. I felt that Liberty Bell met all these criteria. Unseen Stars A n extract from the novel by Peter Bailey, who was diagnosed with Friedreich’s ataxia when he was in his early teens. One dream – of which I only ever have the briefest snatches – marks, in a way, a turning point in my life. The word idyllic does not do justice to describing my early childhood; I leapt through the first ten years of my life blissfully unaware of what would soon befall me. In this dream I am eleven years and a couple of months old. The gradual deterioration in my balance and in my ability to do any physically complex things had been around for a few years now, but it is only now that I’m becoming aware of the certain progressing limitations that are affecting my body. I have heard the name of the condition I am to suffer from being bandied about my family before because of my brother, and I also have a vague notion of genetics and of the possible implications of the condition. Either because of a subconscious aversion to admitting I have it, or by adopting a laissez faire attitude towards the future, in the dream I am genuinely mystified as to why I used to be able to do about eight ‘kick-ups’ with a football, whereas now I can do no more than four. I am standing, hands on hips, at the end of my garden. The football is at my feet, my house is 5 How else do you spend your time? I was diagnosed with cerebella ataxia about twenty years ago and over the years, with the development of the condition, I have had to curtail some of my activities which included, sailing, badminton, golf and walking. However, some of these interests have another side to them which I can join in. For example, meeting the rambling group for lunch after they have completed their walk. I also organise a curry club for approximately 26 people which meets every month. What's next on your agenda? I was diagnosed with cancer of the oesophagus about six months ago. Until my cancer treatment is completed with a satisfactory prognosis, I am not prepared to take on any other activities. The current and future editions of the audio Ataxian will be available for download in MP3 format. If you already subscribe to the CD version and have elected to do so, you will continue to receive your copy on CD. behind me and I am looking out through the gaps in the fence across the field. I am not angry about my apparently decreasing ability to play football, more puzzled. Through the fence I see a group of older boys walk past. They are probably about fourteen or fifteen, but – being eleven – I see them as adults. The ‘man’ who seems to be the leader sees me and they walk over. ‘Y’aright mate?’ says the leader in a poor middle –class imitation of a cockney accent. ‘Alright?’ I reply, similarly. ‘Do you know what this is?’ He holds it up like a prized possession. ‘Uhm – a cigarette,’ I say, slightly insulted. ‘Yeah, but do you know what’s inside it?’ He grins surreptitiously at his friends. I have seen pictures of Bob Marley holding those kinds of cigarettes before… ‘Marijuana?’ ‘You’re not as stupid as you look! But this joint has a special ingredient in it – it’s a surprise!’ The gang erupts in laughter. ‘So do you want some, or what?’ ‘OK,’ I say. So we venture up towards the brambles and the weeds, sit under the horse-chestnut trees and smoke the joint. I don’t know if the others are just pretending, but I don’t feel any different afterwards. I tell them I like it, though, because I do. It makes me feel adult, like I’m moving on. I’m not really, though, actually I’m falling backwards. © Peter Bailey 2013. ISBN 9781304174147. 5 Research Our research gets results! Pushing forward with our 2020 vision, in this edition of the Ataxian we tell you about our three new research projects and some very promising results. Hearing problems in ataxia are beginning to receive more attention from research and in our first project we hope that suitable hearing aids can be developed specifically for ataxia. We’re also helping to sustain the ataxia research community by funding a PhD student to look at the important role of calcium in producing energy for cells in a mouse-model of Friedreich’s ataxia (FA), and in our third new project we’re looking to move gene therapy in FA forward from an animal model into a system that can be used safely on humans. Then in our results section we tell you about the great new addition to physiotherapy for children with ataxia that uses video games to get the kids motivated about their treatment. And lastly, you can read about how a drug that is usually used to treat multiple sclerosis has been shown to improve balance and coordination in mice with spinocerebellar ataxia type 7-like symptoms. Three new projects Better hearing aids for Friedreich’s ataxia and spinocerebellar ataxias R esearchers in Australia and the UK have jointly been awarded a grant to investigate new devices for those with Friedreich’s ataxia (FA) and spinocerebellar ataxias (SCA) who develop hearing loss caused by nerve damage. Dr Kai Uus, who will lead the group at the University of Manchester, spoke about hearing loss and the impact it has on those with ataxia at our Annual Conference earlier this year. Conventional hearing aids can’t help Hearing loss in people with FA and SCA does not necessarily affect the level of the sound which they can detect, but rather the quality. This is because it’s the brain that processes and interprets sound picked up by the ears. So, even if the ear works normally, damage to the central, hearing-related parts of the brain can cause distortions in the sound heard. Conventional hearing aids, which only amplify the sound, cannot help in these situations. To solve this problem, two groups, led by Dr Gary Rance at the University of Melbourne and Dr Kai Uus at the University of Manchester, are conducting research into more sophisticated hearing devices, called Digital Speech Processing (DSP) hearing aids and frequency modulation (FM) listening systems. They aim to develop the devices to cater specifically for people with these types of ataxia. 6 Previous research by the group in Melbourne has found that over 95% of people with FA show signs of damage to their auditory system, and a preliminary study suggests that around 70% of those with SCA suffer from hearing loss. This affects their ability to communicate and can reduce quality of life. It is hoped that this research will lead to hearing aids that allow more effective communication and improve quality of life. “Both Friedreich’s ataxia and spinocerebellar ataxia can influence the function of the auditory system. Affected individuals can have normal ears, but still hear poorly as the signal gets scrambled at one or more stages of processing in the brain. As a result, complex sounds (such as speech) may be distorted and hard to understand – particularly in the presence of background noise,” says Dr Rance. “Our Ataxia-UK supported research project aims to explore what is going awry in the auditoryprocessing pathway and to develop auditory devices that can ameliorate the problem.” Take part in phase II Dr Uus adds: “We will be looking for a small number of participants in the UK to take part in the second phase of this study. Please call 07876 408 656 or email me on kai.uus @manchester.ac.uk if you have FA, or SCA1, 2 or 6, have experienced any difficulty with your hearing and would like to take part in this pioneering research.” Dr Kai Uus speaking at our Annual Conference in October Research Exploring the role of calcium in Friedreich’s ataxia D r Paola Giunti, who runs the London Specialist Ataxia Centre and is a leading clinical researcher at University College London (UCL), has been awarded funding from UCL’s ‘Grand Challenges’ grants programme for a researcher to do a PhD on Friedreich’s ataxia. The scheme involves UCL funding two thirds of a research project and is reliant on getting an external funder to provide the final third. Ataxia UK is pleased to be the external funder for this project, meaning that we will effectively gain three years of ataxia research for the cost of a single year. treatment for a disorder as slowly devastating to life as Friedreich's ataxia, it could also reward us with new ideas about how vital and interlinked body processes can go wrong in the mitochondria. In turn, this could have a profound effect on research in a range of neurological diseases.” Developing a safe delivery system for gene therapy A group at the Universidad Autónoma de Madrid in Spain have received funding from Ataxia UK and the Catalan Association of Hereditary Ataxias (ACAH) to develop a safe method of delivering the frataxin gene into the body, so that it can be used in gene therapy for Friedreich’s ataxia (FA). Building on a method developed by researchers in Michigan, Dr Filip Lim and his team intend to adapt their past work with mice to make a delivery system suitable for use with people. PhD student Alex Brown The student, Alex Brown, will be studying what happens in Friedreich’s ataxia as a consequence of having too little of the important protein frataxin inside cells. It is known that frataxin is found within a part of the cell called the mitochondria and that this part of the cell makes energy. Energy production in heart muscle cells The mitochondria of people with Friedreich’s ataxia do not function properly, due to low levels of frataxin, and this project will help us to understand more about why. Specifically, Alex will look at the heart cells of mice with FA-like symptoms to see how the role of calcium (an important molecule for cell communication) is affected in the mitochondria’s energy production process. Getting a better understanding of this process might lead to potential new treatments. "I am very excited that Ataxia UK has offered me this opportunity to do research in a fascinating, diverse and rewarding branch of biology,” says Alex. “Not only might this research lead to better Dr Filip Lim Gene therapy seeks to replace a faulty copy of a gene with a fully functional version, and could be used to treat conditions such as FA, where the gene responsible for the condition is known. However, in order for the new copy of the gene to reach the correct part of the body it must be carried there by a specially designed delivery system known as a vector. Part of the challenge of developing gene therapies for use in people is to ensure that these vectors are safe. Delivery via the skin In their past research, Dr Lim’s team conducted research in mice into how the vector could be made effective. However, as it is not currently suitable for use in humans, they will modify this vector so it can be injected into the skin rather than directly into the 7 Research nervous system. This will mimic a cancer treatment shown by another group to be safe in clinical trials, but will instead deliver the frataxin gene. This new vector will be initially tested in nerve cells grown in the laboratory and in if successful this will need to be tested in animal models. In this way, the research will try to move one step closer to making gene therapy a safe and effective treatment for FA. New research findings in ataxia Video game training shows promise N ew research in Germany suggests that whole-body controlled video games (‘exergames‘) help to reduce ataxia symptoms in children with degenerative ataxia. If confirmed in larger trials, this could lead to developing more child-friendly rehabilitation strategies. Ataxia UK has been funding an innovative project at the Hertie-Institute for Clinical Brain Research, Tübingen, together with Ataxia Ireland and the German Hereditary Ataxia Foundation (DHAG). Dr Matthis Synofzik and his team have been testing whether video game training can help to alleviate the symptoms of ataxia in children with degenerative ataxia by improving balance and coordination. They supposed that by using video games children would find the treatment more fun and would be more motivated to do it. Children and young people with a variety of different types of degenerative ataxia, including Friedreich's ataxia and spinocerebellar ataxia, were recruited from the Neurology Clinic and the Children’s Hospital, University of Tübingen. In total there were ten participants, aged between 8- and 20 years old. The researchers chose three Microsoft XBox Kinect games: 'Table Tennis', 'Light Race' and '20000 Leaks'. These were deemed to be particularly suitable for working on whole-body coordination and dynamic balance, two issues especially relevant to ataxia. In order to play the game, the child stood in front of the screen and a sensor within the XBox console detected their movements. Above: Experimental setup in the goal-directed leg placement task used to assess accuracy of movement. Paricipants performed the task without balance support, but were protected from falling by a safety harness (not illustrated) 8 Research These were then used to control the screen player, enabling the child to play the game with nothing more than their own body. For example, for the game 20000 Leaks, participants stood in a virtual underwater basin and were required to plug leaks coming from all sides with their hands and feet, meaning that they had to constantly reposition their arms and legs under conditions of time pressure. The training was conducted over an eight-week period, with the first two weeks in a laboratory setting supervised by a physiotherapist and the remaining six weeks in their own home. Sessions lasted 45 minutes to an hour, repeated three to four times per week. The participants‘ condition was examined a total of four times: two weeks before their first session, immediately before they began, after their first two weeks in the lab and right at the end of the course after their six weeks at home. Motion capture Examinations at these time points were video recorded so they could be independently assessed by a specialist who was blinded to the time point of assessment, thus preventing rater bias. In order to assess the effect of the training on ataxia the researchers used a standard assessment tool (called SARA) that has been designed specifically for people with ataxia. The SARA scoring system measures the severity of ataxia symptoms. In addition, a physiotherapist and a motion capture system assessed the child’s balance based on their gait when walking normally and the accuracy of their movements in a leg placement task (pictured opposite). Participants were also asked to self-report their own confidence regarding their balance and how motivated they felt during the sessions. All participants were highly motivated during the training and enjoyed the sessions. Comparison between their before and after scores showed significant improvements, particularly for gait and posture. Their movements became more controlled with less sideways sway, a more consistent gait, improved balance and a reduced risk of falling. This kind of training could therefore potentially help to alleviate the symptoms of many different types of ataxia. However, this was a small-scale preliminary study, with just ten participants, and the findings would need to be confirmed in a larger trial. The Ataxia UK-funded research team is currently investigating whether improvements shown in this study are also seen in children with more severe cases of ataxia, as this study involved children with less advanced ataxia. A fun and functional addition to physio This research shows that intensive training with video games may provide a fun yet functional addition to physiotherapy for children. While supervision is required initially to choose the right games and to monitor adequate initial learning of appropriate movement strategies, it can be eventually done in the comfort of the childrens’ own home, and provides a promising new way to alleviate the symptoms of ataxia. Ataxia UK and the research team plan to produce an information leaflet with more detail about this research. Multiple sclerosis drug may help treat spinocerebellar ataxia 7 R esearchers lead by Dr Annie Sittler at the Pierre-and-Marie-Curie University in France have recently published results that show some promise for treating SCA7 with the use of a drug normally used to treat multiple sclerosis. It has long been known that in SCA7 a toxic accumulation of mutant ataxin 7 protein builds within nerve cells which become damaged. In this study, a mouse model of SCA7 (that has similar symptoms to people with the condition) was treated with the drug interferon beta. This drug modulates the immune system and is normally used to treat multiple sclerosis. Improved balance and coordination Results showed that interferon beta was able to reduce accumulation of the toxic ataxin 7 protein within cells and also to improve balance and coordination in the SCA7 mouse model. These results are encouraging and suggest that interferon beta could be used to treat people with SCA7. However, the researchers say that further studies need to be done in the laboratory before this medication can be tested in patients with SCA7 in clinical trials. Take part in genetic research W e have been approached by researchers at University College London to help them recruit 50 families with unidentified ataxia. This is part of a £100 million Government-funded research project by company Genomics England that aims to sequence the entire genome of people with rare conditions in which the genetic cause is unknown. We are delighted that the team in London is proposing to include people with ataxia in this study. However, they need to recruit families very quickly–within the next couple of weeks–so if you are interested in helping with this research, please read the letter from the team which you can find in the 'Taking part in research' section of our website, or contact Joshua Hersheson on [email protected] or 020 3448 4069. 9 Fundraising Let’s take another look at funds raised since April, then. Top left: Congratulations to Kerry Bull (pictured with members of the Derby Support Group) and the organisers of the Belper Games. The event hosted an ‘it’s a knockout style’ competition and fayre which raised a whopping £4,000! Bottom left: Jo Cummings, Martin Loose, Jordan Neves and Becca Loose held a Hadrian’s Wall sponsored walk and raised £1,136. 10 – hooray for all concerned! Top right: Taryn Cotton pictured with her horse persuaded the North Lizard Riding School to hold a sponsored ride which raised a fantastic £300. Bottom right: 100 riders and15 volunteers survived the hills of Snowdonia on a sunny Welsh weekend for this year’s Big Bad Bike Ride. As always the event was a tremendous success really rather wonderful - raising over £75,426! Huge thanks go to organiser Graham Kennedy. We look forward to the York ride in 2014. Fundraising Harriet Bonney; Paul Ingham; Phillip Ingham. Put a spring in your step with the next Chance to Win draw! Top right: The family and friends of Andy Cook have been raising money in his memory. Mike and Tim Warren cycled 650 miles to the home nation’s rugby grounds in their ‘4 Nations 4 Andy’ challenge raising a stunning £4,514 and the warriors from the Authentic Food Company raised an epic £5,560 through their Tough Mudder Challenge (pictured). Special thanks and appreciation go to: Niamh Cassidy whose charity evening raised £374 for us Ÿ Alicia’s Fun Day in Loughborough raised an Top left: Stuart Gibson completed the Northampton Half Marathon in memory of his cousin Dean Mortimer, who passed away earlier this year, and raised a wonderful £1,751.Our thanks also extend to Dean’s parents for sending us £975 in friend and family donations. Bottom left: James Kent and the Pool to Pool riders undertook a bike ride from Hartlepool to Liverpool (well, West Kirby actually - that's an extra 10 miles) and raised a terrific £5,612. amazing £611 this summer. Alicia’s family have been holding events for the past 3 years and have raised nearly £7,000! A special mention for Alicia’s Cousin, 12 year old Kian Newton, who raised £36 at this year’s event by shaving his head Ÿ Our Chester Marathon runners: Mark Williams (£1,770), Sophie Everett (£603) and Paul Halsall (£1,227) Dan Mallerman for overcoming the Survival of the Fittest assault course, raising £811 11 Fundraising Boots on Tour S turdy shoes were needed for ‘Boots on Tour’ which took place in May. The event saw musician Steve Bonham and friends conquer Hadrian’s Wall with footsteps and song. The group stopped along the route to play a number of gigs which helped to raise £2,755, a grand total to shout about! Steve Bonham also released a single in aid of Ataxia UK called ‘Steady,’ which is available to download from his website at www.stevebonham.net/steady Steve Bonham playing ‘Steady’. Return of the Cycling Doctor Y ou may have been following the progress of cycling doctor Andreas Tridimas (pictured below, second from right) in issues 181/2, as he cycled the length of the south American continent. As we went to press he had raised a cracking £5,187 for Ataxia UK, and here he is to tell us about his experience: So here I am back in Liverpool. Cycling the length of South America as part of the Cycling Doctors is just a distant memory. It turned out to be the hardest thing I have ever done. Yet at the same time it was easily the best thing I have ever done, and the sense of achievement on finishing, was something I have never experienced before and probably never will again. Six months of waking up each day and cycling until sunset across some of the most epic scenery this planet has to offer. There were times, particularly in Bolivia, when it became a real struggle. Two bouts of foodpoisoning had left me weak and, when combined with the effects of altitude and the relentless uphills, it took on a whole new level of pain. However, whatever I now attempt in life could never be as hard as it was then. Such physical challenges toughen the mind and make coping with adversity in future much easier. Inspired by my friend Phil I set out wanting to raise as much money as I could for Ataxia UK. My good friend Dr Phil Mchale who has Friedreich’s ataxia had been my inspiration to do a charity cycle. Phil was only diagnosed with this condition in his fourth year of medical school, yet he continued on into his second year as a qualified doctor when finally he had to accept that his lack of co-ordination was making it too difficult to continue working. His ability to just get on with life and never moan about the debilitating symptoms of his condition, is something I truly admire. Hence, given the lack of treatments, I just had to contribute something hopefully to develop future treatments for people like Phil. Thank you to everyone who supported and donated to the Cycling Doctors along the way! Andreas 12 Fundraising International Ataxia Awareness Day A taxia UK loves our awareness raising ambassadors and once again they pulled out all the stops to make International Ataxia Awareness Day 2013 a big success. Below is a selection of pictures from events that took place around the UK Right: Becky Haworth’s collage of her schoolfriends’ wrists Left: Sheffield Branch’s outing to the Yorkshire Wildlife Park Right: North West London Branch’s bake sale at the National Hospital of Neurology and Neurosurgery raised £213 Left: Mhairi Jarvie and friends in Dumfries at their ZipWire challenge which raised £1,049 Right: The Wheely Wobbly Bridges Walk in Central London sponsored by Fidelity Worldwide Investment 25 September has come and gone but the challenge of raising awareness goes on. To get involved, please call our team on 020 7582 1444 or email us at [email protected] 13 Health Left to right: Marios, John, Gail and Barry Doctors’ Q&A This time Doctors’ Q&A took place at Annual Conference in Manchester. The session was chaired by Professor Barry Hunt and on the panel were two consultant neurologists, Professor Marios Hadjivassiliou, director of the Sheffield Specialist Ataxia Centre, and Dr John Ealing, from Salford Royal NHS Trust, and ataxia nurse Gail Eglon, from the Newcastle Specialist Ataxia Centre. Together the panel answered questions sent in advance and asked during the session. Q My brother goes to physiotherapy and hydrotherapy and he enjoys that. Are there any results or studies that have been completed which show that specific physiotherapy, hydrotherapy or increased amounts of exercise would help in any way to reduce the aggressiveness of Friedreich’s ataxia (FA)? A Marios: There was a study from Germany published in Neurology looking at physiotherapy in ataxias. It was not specific to FA, but any ataxia. It was an intensive programme of physio and it showed that it did provide benefit for patients with ataxia. If you maintain muscle activity you will keep your muscle bulk as much as possible. So, yes, there is evidence there that it is beneficial and is something that I am always keen to prescribe. 14 A John: Yes, definitely. I think proving benefit in physio trials is hard, but it’s very logical that advice to keep you as mobile as possible would be good. Physiotherapy doesn't seem to do any harm. So yes, always physiotherapy. Q Is it possible for ataxia to be genetic without the patient having ever inherited it from somebody? If so, could it be passed on to their offspring? A John: The simple answer is yes, certainly. The Royal Institute predicted that when we are made, we develop about 60 new ‘spelling mistakes’ in our genes that Mum and Dad didn't have. The genetic information our parents give to us is a book about three billion letters long, and if you copy three billion letters you will make mistakes from one copy to the next. So, unsurprisingly, we're all full of spelling mistakes. If you have a spelling mistake that happens to occur in a gene that can cause ataxia, then you will have ataxia whereas your parents will not. Whether you pass on that spelling mistake to your own children depends whether that spelling mistake has affected your reproductive organs. If it happens early in development, every cell in the body will contain the spelling mistake, and then you have a 50:50 chance or it may be certain that you will pass it to your children. If, however, that spelling mistake occurred later in development, and it just affects part of the body, but your ovaries or testes are not affected, then it is possible that you will not pass it on. As a rule, if you’ve got a spelling mistake that’s new to you, it is likely that all your Health cells will be affected and so you will have a chance of passing on that spelling mistake to your offspring. and certainly not the easy thing that the press sometimes portrays it as. Q I’m having problems with my bowel, and my GP and the doctors at the hospital blame it on my FA. Is there any knowledge about whether FA does affect the bowel? I have gluten ataxia and angina. The soles of my feet get red hot, which is very uncomfortable and can make sleeping difficult. Why am I having these problems with my feet? Is it part of gluten ataxia? What can be done about it? A Marios: A lot of people with gluten ataxia will also have neuropathy, by which we mean that they have damage to their nerve endings. This sometimes results in loss of sensation or unpleasant sensation, and sometimes in pain. So I suspect that your symptoms may be part of the gluten ataxia. So what can be done about it? We know that with gluten ataxia there are a number of different medications that can be used for symptom relief, which can get rid of or reduce the intensity of the pain. This group of medications can be prescribed either through the neurologist or your GP. Q Are people with idiopathic cerebellar ataxia tested for all 36 SCAs that are known? A Marios: The simple answer is no. What we do is test for a group of ataxias that are both easy to test for and some that are common in the UK. We test for Friedreich’s ataxia and SCA6, which are the commonest genetic ataxias in the UK, and also SCAs 1, 2, 3 and 7. These groups of tests are relatively cheap and readily available in genetics labs in the UK. As you say, there are probably 36 different SCAs. Soon we will be able to test for many more of the ataxias where the genetic defect is known, with new machinery for genetic testing. It will cost something like £1,000 per patient. We will, I hope, learn whether some of those ataxias are common or rare and so will be in a better position to identify them and decide whether it is worthwhile testing all UK patients, including the patients with idiopathic sporadic ataxia. I anticipate that in the next year or so we will be in a much better position to genetically characterise at least some of the genetic ataxias and possibly some of the familial ataxias and possibly some of the idiopathic sporadic ataxias that may also be genetic in origin. A John: You can read the sequence of the human genome relatively cheaply nowadays, and that is a really good way of finding out all the rare causes of ataxia. The problem is that you have lots of information and you have to try to say what it means, so the next big thing is to try to interpret it. What does it mean? How does it cause disease? I think we will get there, but it is not an easy thing Q A John: I wouldn't wish to connect the two. There is a natural assumption that once you get a diagnosis everybody seems to ascribe everything to that rare diagnosis. I personally would look at other causes as I haven't seen it in any FA patients. A Marios: I agree with John in the sense that it’s not common. Therefore you ought to look for other causes. Bladder dysfunction is associated with FA, but bowel dysfunction less so. What you can do about it, in terms of symptom relief, depends on what the precise symptom is, and medication may be helpful. A Gail: You can be referred to a specialist for this kind of problem, and it sounds like you would definitely benefit from that . New medicines for serious conditions A taxia UK is a member of Genetic Alliance UK, the national charity of over 150 patient organisations supporting all those affected by genetic conditions. As part of a European research study, Genetic Alliance UK and researchers at the University of South Wales want to understand how patients perceive the risks and benefits of medicines. The work is important to ensure that patient views are valued in the regulation of new medicines. If you are 18 or older, and you are a patient or a carer, you can help by completing a short online survey before the end of December 2013. The survey includes questions about your experience with medicines, your view of the risks and benefits associated with medicines, and how you think medicines should be regulated. To complete the survey in English, go to www.survey.glam.ac.uk/englishsurvey or visit the Ataxia UK website for a list of links to the survey in French, Dutch, Spanish, Romanian, German, Italian and Polish. 15 Services Who cares? I n November 2011, Daniel Roque-Hall was arrested for attempting to smuggle cocaine into the UK. Following trial, Daniel – who has advanced Friedreich’s ataxia – was sentenced to three years in prison. However, while inside, Daniel became seriously ill and Ataxia UK became involved in the campaign to get Daniel the care he needed. Here, we speak to his mother, Anne Hall, about her experience of what happened. Ataxia UK Friend, Anne Hall How did Daniel come to get arrested? Daniel had been out of the country with his carer. He was stopped at immigration because he’d been found with a large quantity of cocaine inside his wheelchair. It was a huge shock. He said immediately that he was responsible for it, which was true. So that began a whole judicial process: being questioned, being charged, going to court... He finally went to prison in June 2012. Given the circumstances of his ataxia, why was Daniel sent to prison? The judge had been concerned about whether Daniel could be adequately looked after in prison; a ‘category B’ prison has quite harsh terms. If they couldn’t meet Daniel’s needs, then the judge couldn’t send him to prison. But the prison said that they could manage. There were reports from Daniel’s neurologist and endocrinologist and GP which said that without his daily exercises, he would deteriorate quite quickly. Daniel has specialist equipment at home. He goes to the pool very regularly. But without all of this he would be a) in a lot more pain and b) would suffer from deterioration in function. 16 What happened when Daniel was inside? Although he was at high risk of falling and spasms, he was left alone on a medical examination couch. He spasmed and fell off. Under protest, they took him to hospital for a scan. He was then placed in a care home for the frail elderly and people with Alzheimer’s. He became unconscious with hypoglycaemia. Blood tests showed that he had developed thyrotoxicosis. The prison failed to respond to his needs in terms of exercises. He had no access to any kind of occupational activity. He was placed on a wing that had just 20 psychiatric patients and him. After three weeks Daniel was in atrial fibrillation, meaning he had a fast, irregular heartbeat. He kept asking to go to hospital and to see a cardiologist. The request was ignored. He lost a huge amount of weight, he couldn’t swallow, his speech was worse, he was shaking. He didn’t shake like that before. He was very ill. Did the prison provide any care? They recognised that Daniel needed 24-hour care, so he had a healthcare assistant. But not like his assistants at home, who do all his exercises and use the equipment. They didn’t understand that if Daniel has atrial fibrillation, that he needs to go to hospital straight away, because he’s got cardiomyopathy–heart muscle disease. They had him sliding out of his wheelchair, his back was arched and his feet and legs were all in the wrong position. It had all been explained already, the importance of him being properly supported in his back, and I went through it with them again, but they still did it all wrong. Why do you think they coped so badly? The healthcare staff were used to dealing with acute illnesses such as appendicitis or a bad throat. But principally they were used to dealing with people who were acutely psychiatrically ill. They had no experience whatsoever really of any kind of severe disability, and none of ataxia. I don’t think they had any inkling of the complexities of a multisystem disease. There was no recognition of the symptoms associated with his rapid deterioration and so that culminated in him ending up in intensive care and a long period of hospitalisation after seven weeks. What do you think the prison could have done differently, to make sure that Daniel got the care he needed? Daniel needed to be able to direct his care. He needed to be able to have his equipment there, which the prison originally said they would have. He should have been in charge of what exercises he needed. When he did them, how he did them. Because, as anybody with ataxia knows, what you need at different points in the day is going to vary, and you are the expert in that. For Daniel to have a punishment that fitted his crime, he probably needed to be under house arrest; a form of Services imprisonment, but with the care happening in that environment. How is Daniel now? Daniel is much better. He came out of both hospital and prison in February. He’s been through a lot: prison, intensive care, being under guard for 24 hours a day – that has a mental effect. It took him a while to get over that. But he is now physically and mentally much stronger and he has said himself that he is a much calmer and more reflective person. Prior to what happened, he felt he might as well take all the risks in the world and he didn’t care about anything. But he has become reconciled to the limitations in his life – as we all have to – and he really appreciates what he has. products with the Energy Saving Trust’s recommended products label, for the most energyefficient goods. Bright ideas for saving energy and money W ith winter on our doorsteps and fuel costs rising, using less energy can certainly save money, but it’s also vital that you have enough light and warmth. Here are some tips on some of the little things you can do right away to help keep you warm and safe, and not too out-of-pocket. Draught-proofing your home You can greatly improve your comfort by fitting draught-proofing strips and draught excluders around doors, and by fitting covers to letter boxes and keyholes. But do leave some ventilation to reduce condensation and to prevent the build-up of waste gases from fuel-burning appliances. And be sure to install a carbon monoxide detector in case air vents become blocked. Hot water and central heating Get to know how the timer and thermostat controls work on your boiler system. By setting the controls accurately you can make sure that you only have heat and hot water when you need them. Don’t set the water temperature or heating too high, but remember that being warm enough is important to your health. Try to adjust your heating as the weather changes. Lighting Incandescent lightbulbs have been phased out, so you will soon only be able to buy energy-saving ones. These are more expensive, but they use up to 80% less electricity. Turn lights off when you leave a room, but not at the expense of your safety. Keep stairs and other areas well lit to reduce the risk of falling. Electrical appliances Switch off appliances rather than leave them on stand-by, and unplug chargers when they’re not in use as many still use electricity when they’re plugged in. When you replace appliances, choose Left: The Energy Saving Trust’s recommended products label. In the kitchen Some general rules include only boiling the amount of water you need for hot drinks, de-scaling your kettle regularly, not putting hot food in a fridge or freezer as it takes more energy to cool it down, and defrosting frozen food in the fridge overnight to reduce the cooking time. Washing and laundry For the dishes, wash up in the sink or in a bowl, rather than under running water. For clothes, wait until you have a full load before running the washing machine, and use a lower temperature. If you use a high speed spin, clothes can come out almost dry. Did you know..? Ÿ If you are on your energy supplier’s Priority Services Register, you may be eligible for a free energy check. Speak to your supplier to find out. Ÿ The Thomas Pocklington Trust produces a free guide called ‘Choosing energy saving light bulbs for your home’. Contact them on 020 8995 0880 or download the guide from www.pocklingtontrust.org.uk. The Energy Saving Trust gives free, independent, expert advice on saving energy in your home, from Monday to Friday 9am to 8pm or Saturday 10am to 2pm. Contact 0300 123 1234 (calls are at the national rate) or find them online at www.energysavingtrust.org.uk. If you’re over 60 and having difficulty paying your energy bills, you can contact Age UK Advice on 0800 169 6565. Many thanks to Alan Morris from the Hampshire support group for compiling the information. 17 Adapting to life My adaptive A-Z Matthew Law I n the last issue I discussed a particular type of wheelchair that had made life a little easier. Every single aspect of one’s life is affected when you are faced with a diagnosis of ataxia. I have found that the best way of dealing with it is to deal with each aspect in isolation and deal with it only when it causes you frustration or pain. I think it’s fair to say that I am fiercely independent and at no stage in my life have I physically depended on someone else unless there has been absolutely no alternative. Even my PA’s I employ to help me, not to do things for me. When I visit family and friends I accept that I must lose that independence for a while. But I thought it may be a help to all Ataxians out there if I went through all the devices/aids and ideas in my home to show you how I manage to stay independent while there. Not all are designed as aids specifically for disabled people, but they are a help to me. These are listed in alphabetical order. is now remotely opened by pressing a button. But do make certain to have working smoke and carbon monoxide detectors. For more about fire safety, see www.nidirect.gov.uk/fire-safety-in-the-home. Floor: Problems moving around? I began to find it more of an effort to get around on my carpet so I had a vinyl tiled floor installed in my bungalow. Home-delivered meals: If you have problems preparing your own food, you can get a company to deliver very varied and tasty meals to your door. I use Wiltshire Farm Foods (who deliver nationwide) but there are others which you can find by googling ‘home-delivered meals’. My delivery is free and they put it straight in the freezer. The meals can go directly into the microwave from the freezer (no piercing required) and they are simple to open, even when piping hot. Just try their chilli con carne (£3.20) or their Lancashire Hotpot (£3.30)! Kettle tipper: Discussed in Issue 181 Leg lifter: Problems getting dressed? A leg lifter enables me to get my clothes on in the mornings. It is a straight stick with a ‘lasso’ type piece of material on the end which enables me to lift my foot up using my arms. Adjustable bed: I relieve pain in my back by sleeping with my back bent. Both ends of the bed can be raised or lowered at the push of a button. Clear floor space: Sounds simple but moving around in a wheelchair is much quicker, easier and less stressful if you don’t need to constantly move things out of the way. My cat certainly knows what she has to do when I shout ‘Move’! Doors: I removed all internal doors when I first moved in (except the bathroom!) and my front door Fabric (pictured above) and straight stick leg lifters are available on from around £5-£12. Letterbox net: I have a deep net/bag attached to the inside of my letterbox to prevent letters from falling to the floor. Mats: I have a rubber ribbed mat by each place that I transfer to and from to stop my feet slipping when I’m getting in or out of the wheelchair. Monkey poles: Aka floor to ceiling poles or ‘SuperPoles’. Again I use these to help me transfer to and from my wheelchair. If you search for ‘floor to ceiling poles’ online, you should find several retailers with poles in the range of £40-£200 each. Matthew and his little sister Louise. 18 Outside tap: Problems watering your garden? Simply get an outside tap installed in your garden to enable you to do the watering. (Be sure to leave the hose within reach.) Opportunities Pull chords: Make sure all your blinds and curtains have pull-chords that you can reach. But do please be aware that these can be dangerous if you have young children in your home. Reclining sofa. When I fancy a long TV-watching session, I transfer to my sofa which has a button on the side which automatically raises my feet and lowers my head so I can sit or lay in comfort. Remote switches: I can turn on and off my TV and side lamps when in one position by having each ‘device’ controlled by a remote switch. This saves me circling the house each night turning all my lights off. Take a look on www.ebay.co.uk for a variety of switches in the ‘Home, Furniture & DIY’ section of the website. Cornberg equipment and adaptation grants Shower instead of bath: For many years I have been showering instead of having baths, as I had problems getting in and out of the bath. If you are a council or housing association tenant, then your housing manager will arrange this for you. Sinks and tables at the right height: An inch too low or too high can cause a wheelchair user a whole range of problems. You will learn to live with the discomfort but why not get it right first time? Window winders: Problems opening and closing windows? Discussed in issue 182. If you have ataxia and there is one particular issue you would like me to discuss concerning your ataxia then please let me know by emailing me on [email protected] or by finding me on facebook. Jerry Farr Travel Fellowship 2014 T he Cornberg Fund was made possible by the generous legacy left to Ataxia UK by the writer Catherine Gaskin Cornberg, whose sister had ataxia, to assist people with ataxia with mobility within their homes. It specifically exists for the benefit of people with ataxia to assist their mobility and comfort by helping to fund the purchase of equipment and adaptations, for example for bathing and toilet facilities and other practical amenities to help improve quality of life for people with ataxia. The fund helps people affected by ataxia as their primary condition with the cost of home equipment (this does not include wheelchairs) and adaptations they need as a direct result of their ataxia, which they cannot afford to buy themselves and for which they cannot get statutory help. Grants for people with ataxia as a secondary condition will be discretionary. All grants we award should improve the quality of life of people with ataxia and those who care for them voluntarily, by helping to purchase adaptations and equipment of real and practical benefit to them, enabling them to live fulfilling and independent lives and contributing to their physical and emotional wellbeing. Contact [email protected] or 0845 644 0606. The next closing dates for applications are: Ÿ 28 February 2014 Ÿ 31 May 2014 The Jerry Farr Travel Fellowship is generously funded by the friends and family of Jerry Farr, who had Friedreich’s ataxia and passed away in 2007 after a life of travel and adventure around the world. D on’t send your applications in just yet kids, but do get your thinking caps on and get ready to tell us about your trip of a lifetime. The next deadline for our annual Fellowship award will be on 29 April 2014, and we’ll be accepting your applications from February. Look out in the spring edition of the Ataxian for full details, but just to whet your appetite, you could win a total of up to £6,000 for both yourself (if you have ataxia) and a carer by telling us where, why and how you’d take advantage of this fantastic opportunity—the more adventurous the better, in any way big or small. 19 We would like to thank everyone who gave a donation in memory of a loved one. Leaving a legacy in a will is one of the most enduring ways to make an impact. Much of our funding for research has been made possible by the foresight and generosity of our Friends and supporters. We currently have more than 20 research projects underway, all of which are funded, at least in part, by gifts left in people’s wills. Your legacy can mean hope for the future.
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