Alstrom Syndrome UK Charity No: 1071196, Registered Company Ltd by Guarantee, No: 3557191 NEWSLETTER No. 22 Winter 2006 * We aim to alleviate the suffering of those with Alström Syndrome. * We provide support and information for patients, their carers and the Professionals who are working with them. * We endeavour to raise awareness amongst the public and medical professions. CONTENTS Editorial … Page 2 John and Kay Report … Page 4 Kerry Leeson reports on the Yew Lodge Hotel ….Page 6 Medical News……..Page 7 Genetic Key to Diabetes ..Page 11 Technology news ~ Page 12 Jan’s Recipe ~ Page 16 Editor reports on Family News … Page 17 Contacts … Page 18 Chairman’s editorial - Winter 2006 Well, having thanked everyone for their help and said my farewells during the autumn family conference I am just as surprised as you must be to find me still occupying chair of Alström UK at the start of 2006. Unfortunately for the individuals concerned, when the time arrived for the AGM in November those members who had expressed a willingness to take on this role found that personal circumstances had changed, making that impossible for them. My hope is that in time those issues will be resolved in the best possible way allowing them greater personal freedom. In the meantime therefore I have agreed to continue for another year – on the clear understanding that this time next year someone else will be writing this editorial! Having said all that, the next 12 months will be one of exciting change. I announced at the autumn conference NSCAG had agreed in principal to fund our clinics. Since then the detailed budgets submitted by Richard Paisey and Tim Barrett on behalf of the Torbay and Birmingham NHS Trusts have also been approved so now there should be nothing to stop this coming into effect in April. This is a major first for a rare condition such as ours and will be the first nationally funded multidisciplinary Alström Syndrome clinics anywhere in the world. That such a major step has been possible now is due entirely to the tireless efforts of John and Kay Parkinson who have organised the voluntary clinics for the past 8 years together with the selfless dedication of all our medical friends who have given of their time and skill – often at personal financial cost - to make the clinics happen. We are now entering a phase of transition from the previous regime of a single annual clinic associated with the family conference to more regular clinics at Torbay, Birmingham and possibly Leeds. (It is still intended there will be a clinic associated with the conference). Being centrally funded rather than voluntary, it should be possible to spread the best practice in diagnosis and treatment from these centres to the local trusts which support your day to day medical needs. We are working closely with Richard, Tim and their NHS colleagues to ensure that under the new regime you receive the attention you require without losing the vital patient / doctor relationships which have built up over the years. I hope you will take maximum advantage from these clinics. Without a doubt it will take a little while for the new system to ‘bed down’ – that always happens – but it is everyone’s interests that they work successfully so as the year progresses please do let us know what you like about them and if you can see ways in which they could be improved. As I write this, the Christmas Turkey has all but been eaten, (though we are still struggling to finish off the chocolates) and the New Year’s resolutions have still to be made. (Mine, I think will be to finish my book about Matthew before Spring arrives -so any late contributions are still in time and very welcome). A cold snap has brought snow to the east and frosty weather even down here in Torbay making it feel quite seasonal. I hope you all had a joyful Christmas with friends and family and my wish is 2006 brings a good year to you all. Mike Hales Alström Syndrome UK Conference 8th Family and Medical Conference 2005 Report by Mike Hales, Chair The Weekend of the 22nd / 23rd of October saw the 8th Annual Family Conference taking place at the Birmingham Novotel. As usual there was a clinic held by our medical advisors at the Birmingham Children's Hospital the following day. This was the third occasion the event has been held in Birmingham and arguably the most successful. The Hotel staff are now used to us and our special needs and provided excellent facilities. There were 12 affected individuals present and representatives from 13 affected family groups. Importantly among the delegates were three new families who had not been before. It was as always a chance for friendships to be made or renewed and for experiences to be shared. After the welcome dinner, an auction raised an excellent £800 for the charity. For the first time in a number of years the costs of the conference were met from the fundraising efforts of a number of our families and supporters. In particular Brian Vasey and Anthony and Victoria Broadly and friends completed the 2005 London Marathon in support of this event. Following the consensus at last year's meeting, speakers this year were mainly medical or scientific and we were honoured to have some of the world’s leading experts. Dr Richard Paisey, (Consultant Diabetologist at Torbay Hospital), gave an overview of the AS condition. Understanding of Alström Syndrome is advancing all the time and this update of current thinking was very welcome. Professor David Wilson, (Department of Human Genetics, University of Southampton and one of the discoverers of the ALMS1 gene), provided a teach-in on DNA and genetics as applied to the Alström gene mutation. Professor Graeme Black (Honorary Consultant in Genetics and Ophthalmology at Manchester), spoke about the retinal dystrophy which affects Alström patients. There were many questions from the audience for all of these speakers each one answered with patience and honest explanations of what are often difficult subjects. A clear hunger for knowledge was satisfied that day. In fact the question and answer sessions went on so long that lunch had to be delayed and the afternoon sessions re-arrange. After lunch Dr Ian Bennum, (Clinical psychologist Torbay Hospital), spoke about coming to terms with rare diseases and we then heard about Juice Plus+®, a proprietary fruit and vegetable concentrate which might help to improve diet for some people. Appropriately this was followed by Kath Williams and Debbie Hodge, (Nutritionists at Torbay Hospital), explaining the importance of diet and exercise. And just to prove the point we were all persuaded to join in some exercises to experience the benefits for ourselves! While all this was taking place a group of volunteers took our younger children on a visit to Dudley Zoo. There were several hands on' animal touching experiences and many, (including the adult carers), returned with faces artistically painted as wild animals. The clinic which followed on 24th at the Birmingham Children's hospital allowed patients and parents to discuss the individual concerns and receive the best possible advice. Everyone went home satisfied after an enjoyable as well as informative weekend. John and Kay Parkinson Report Happy New Year to you all- we hope 2006 is healthy for you and your family. Department of Health funding from NSCAG for specialised Alstrom Syndrome clinics at Birmingham and Torbay Hospitals should ensure that Alstrom Syndrome patients now get proper care and expert management of their condition. Included in this newsletter is a plan for the new clinics and the dates they will be held. It is very important that you try to attend as future funding will depend upon the success of these clinics. There will of course be changes in how the clinics run and we will be keeping you informed of these in the newsletter. However, the burden of organizing and funding the clinics has now thankfully passed to the Department of Health and leaves the charity free for other developments. We are proud that Alstrom Syndrome UK’s initiatives have now been taken over by the state- charities aim to get better treatments, improved quality of life and better understanding of the condition, statutory funding should mean that Alstrom Syndrome children and young people get the recognition, respect and expert help they need for the life long condition that they live with. AS UK charity should have much more time now to devote to the very many other issues which affect our families such as education, social care, benefits, specialized equipment, respite care etc. We have commissioned a number of literary reviews which will form the basis for grant applications to further our research into these areas. These are being undertaken by Dr Rowena Passy from the University of Exeter. We hope to work closely with Exeter University’s sociology department this year to provide evidence based research of the problems that we all encounter in these areas. We will keep you informed of this vital work. We were pleased once again to organize the 8th Alstrom Syndrome UK conference made possible by funding primarily from Brian Vasey and Victoria and Anthony Broadley (Mike’s daughter and son-in law) who ran the London Marathon for us. We were delighted with the positive feedback we received from families about the conference and from the children who greatly enjoyed their visit to Dudley Zoo. We are now currently working on organizing the family conference for 2006. We have a new venue for 2006. This is because the Novotel did not have facilities for those with Guide Dogs and also refused to let many of our members use the sauna and gym facilities. Keery Leeson reports on the new hotel later in the newsletter. The new venue is the Yew Lodge Hotel, Packington Hill, Kegworth, Derby, DE7 2DT www.yewlodgehotel.co.uk the Hotel is situated a few minutes off junction 24 on the M1. Please contact John or Kay if you want to hear a talk on a particular topic. There is a swimming pool and a golf course near the hotel, and no doubt John will arrange a game on Saturday afternoon for those interested! For the ladies there are health and beauty treatments on offer so you should start saving for those! Some of you will have seen the e-mails about Charlotte appearing on TV. The ITV This Morning programme first asked to do a feature on Charlotte for their series called Living with: which features people living with a rare disorder. Our local TV station Westcountry heard about this and also asked to do a film. This can now been seen on our web page – look at resources then articles to find it www.alstrom.org.uk. We hope to get the necessary permissions to get the This Morning programme on the web shortly. The BBC has now asked to film Charlotte in January, so she is becoming well used to filming! Hopefully it will help raise awareness and make more families join Alstrom Syndrome UK charity. Timetable for next Alstrom Syndrome UK Board meetings 2006: March 4th 2006, July 1st 2006 Time: 10.30, Location: Members Room Torbay Hospital, Torquay Alstrom Syndrome UK Conference 2006 Yew Lodge Hotel I know that it has not been long since we had our last conference but I have been thinking of ways we can improve for the next one and I would like your help. I am looking at the social side of the conference. After speaking with Kay I went to look at a new hotel. It is situated on the outskirts of Birmingham. It has a really friendly feel to it and the owners were very accommodating. A few of the things that stood out for me are as follows: The Hotel is very easy to get to as it is just off the motorway and there are plenty of free parking spaces. There is a train station nearby. All of the lifts have Braille on each button as well as a speaker. All the room numbers are bold and easy to feel. They have inter-connecting rooms. The Hotel was very clean. There is a swimming pool which everyone can use including children. There is a sauna, Jacuzzi and steam room which is available for people over fourteen. Sun beds are available. There is a gym (no doctor’s letter needed) people with diabetes will have to sign a disclaimer. There is a beauty salon and price lists can be sent to you if you want to pamper yourself. Children are allowed in the bar area at all times. Healthy option menus can be provided. The hotel will book us some entertainment if we wish. After speaking with a few of you last year I propose the following: We have a meal and auction on Saturday night followed by a presentation. I am going to get certificates made and need to be informed of any achievements, not only for those with Alstrom Syndrome but their siblings and parents too! I will send out forms nearer the time. On the Sunday night after the children return from their outing and the conference has finished the hotel are prepared to produce a buffet for us all in a private room. We could hire DJ fro a disco or karaoke. If any of you have any ideas or comments about this then please let me know. You can contact me on 01709 709430 or 07759 006613 or my mothers e-mail Lougrice@hotmail.com Kerry Leeson, Director, Alstrom Syndrome UK Plan for NHS Alström Syndrome Multi-Disciplinary clinics 2006 Specialised NHS Alström Syndrome Multi-Disciplinary Clinics will be held at Birmingham Children’s Hospital: Monday 8th May -Children’s clinic with possibility of adolescent group also if requested. Torbay team to join Birmingham team for assessments Monday 24th July- Children’s clinic with focus on audiology or urology or psychology as requested by families Monday 23rd October- Adolescent and children’s clinic after Alstrom Syndrome UK Family Conference weekend. Adult AS persons invited to weekend, opportunity for group and individual consultations for all age groups during weekend. Cardio-respiratory testing for all age groups on Monday. Monday late Nov/early Dec time to be announced. Specialised NHS Alstrom Syndrome Multi-Disciplinary Clinics will be held at Torbay Hospital Friday 8th April- Adult clinic Friday 15th September- Adult clinic Process of Clinic visit; We hope that families will be helped by attending one or two clinics per year. Extra visits to either site for specific problems could also be arranged. A carousel of tests and assessments would be timetabled for each person with an hour for each of cardiology, respiratory tests, diabetes and metabolism and prearranged appointments for audiology/psychology/urology. A summary of results and recommended therapy would be sent to each family, and their hospital and community carers. A carefully planned set of tests on one blood sample at least once per year (providing patient and family not too upset or young) Travel and Accommodation costs will be provided for by the NHS Trusts involved. Dr Richard Paisey Alstrom Syndrome UK Medical News Alstrom Syndrome UK does not endorse any product or treatment. The following articles are for information and you should seek your doctor’s advice before trying anything new. Nov 2005 JUICE PLUS Last month I was privileged to be invited to your family conference. I wish to thank everyone for their hospitality and for the warm welcome that I received. So this serves as a reminder, to those of you that were at the conference, of just what Juice Plus is and what it does. It will also serve as a reference point for those of you that were unable to make the Birmingham conference. Most governments and health organizations in the western world recommend that we eat at least 5-9 fruits and vegetables every day. Preferably fresh, and preferably raw. The French and American governments have recently increased this recommendation to 7-14 per day. WHY ? Every day our bodies produce a by-product called free radicals. These free-radicals constantly cause damage to our cells, which speeds up the ageing process, and exposes those cells to degenerative processes. This process of damage is known as Oxidative stress. Free-radical damage has been linked to Heart disease, Cancer, Strokes, Alzheimer’s, Macular Degeneration, Diabetes, Arthritis and many more. Every study ever done has shown that eating a diet rich in fresh fruits and vegetables protects our health, by controlling Free-radical activity and reducing Oxidative stress. HENCE, THE CURRENT RECOMMENDATIONS. For most of us, eating the absolute minimum of 5 a day is difficult enough; never mind the more desirable 7-14 So what is Juice Plus, and how can it help. Juice Plus is a whole food concentrate, (super food) made from a variety of 17 different fresh, raw , fruits and vegetables, picked when fully ripe, then juiced. After juicing the water, salt and sugar is removed, (helpful for diabetics) and the resultant powders encapsulated for ease of consumption. It contains all of the vitamins, minerals, phyto-nutrients, food actives and living enzymes that are normally found in the fruits and vegetables it is made from. More importantly, it delivers these vitamins and minerals, straight to your body, in the correct amounts and ratios, as intended in nature Juice Plus fruit is made from: Whole Apples, Oranges, Peaches, Papayas, Pineapples, Cranberries, Dates and Prunes. Juice Plus vegetable is made from: Whole Beet-root, Broccoli, cabbage, Kale, Spinach, Parsley, Carrots, Tomato, Garlic and the fibre from Oats and Barley. (Gluten Free) Juice Plus is the most thoroughly researched nutri-ceutical product in the world today. It has been, independently researched by no less than 14 medical universities spanning three continents. A study conducted at the University of Texas Health Science Centre, and published in Current Therapeutic Research, showed that Key Antioxidants rose significantly in the blood of those subjects taking Juice Plus. And that Free-radical activity fell by 75% or more. A further study conducted at Kings College London, and published in the Journal of Human Nutrition and Dietetics, in the year 2000 concluded that Juice Plus can raise blood antioxidant levels into ranges normally associated with a reduced risk of disease.Surely that is what we are all striving to achieve. Nobody could argue that prevention isn’t preferable to cure. There have been many more studies carried out on Juice Plus, and many more that are ongoing.Anyone who would like to know more is most welcome to contact me at any time.Juice Plus is not meant to replace fruits and vegetables. It is intended to support your intention to eat more.It bridges the gap between what we know we should be eating and what we actually achieve. Derek Brunt Tel 01803526140 Derek@juiceplus.me.uk www.juiceplus.me.uk Conference FEEDBACK Feedback from the conference is that it was a really good conference.It worked well not having a separate professionals meeting.The question and answer format was excellent and could maybe Be extended next year. The Novotel is a really good venue. Clinic on Monday was better because people didn't need to have bloods taken Hope that’s helpful from From Kath Dear Sean Thank you for asking me to write on my reflections of the recent conference in Birmingham. As the newest member of the “medical team” I felt privileged to be there and meet the families who attend the national clinic. In June this year I went to the Scientific Meeting in Porto. It was the first time that a Clinical Psychologist has attended the meeting and most thought it was a positive step forward. Clearly those who spend most of their time looking down microscopes wondered what I was doing there, whereas the doctors, nurses and dieticians had a very different view of my involvement. Obviously my contribution was somewhat different as I am mostly concerned with how families and those with Alström cope with their differing circumstances. On Sunday I spoke after two international experts and those who were there had lots of questions because they were experts and supposedly had the answers. I genuinely believe that the families are the experts when it comes to “how to cope with a rare syndrome” because you live with it everyday and we only see you periodically. I do have a lot of experience in helping families cope with uncertainty and it is that experience I would want to offer. One of the problems about being a Clinical Psychologist is that those I meet think that all we are interested in is mental health problems. I hope that in my talk I was able to put the record straight. Many Clinical Psychologists work in mental health, but I don’t. My work is in providing support to patients and families where one member has a serious and often life-threatening medical/physical problem. We are not looking for a psychiatric diagnosis, rather we are looking for ways to help manage the various medical problems that people face and the associated psychological problems that often, though not always, accompany medical conditions. I know that for some people having psychiatric or psychological problems carries a stigma. By working in a medical setting we aim to eliminate that stigma by focussing primarily on the on the medical condition noting the psychological issues that are often present. Some of those who were in Birmingham asked for my advice about managing of their concerns which affect the patient, carer, sibling and practitioner. I hope I was able to be helpful and equally hope that I can continue to be part of the service here in Torbay and nationally as well. I appreciate that those who go to the clinics will need to get to know me a little better before they are comfortable talking about how they feel. It is essentially a “take it or leave it” service; but I would prefer it if I can be seen as a “take it” person rather than a “leave it” person. If there are readers who want to get in touch with me then I hope that they will contact me at ian.bennun@nhs.net. With best wishes Ian Bennun (aka Bushy) Clinical Psychologist Tim Barrett. We ran the third medical screening clinic for children and adults with Alstrom syndrome on the cardiac investigation unit at Birmingham Children's Hospital in October. We were kindly given the use of the cardiac unit for the morning, and Anne the secretary was on the desk to welcome families. BCH Charities Diabetes Fund kindly supported the cost of the refreshments. It was a pleasure to have Dr Chakarpani on board to do the echocardiograms on children. He is a senior paediatric cardiologist with a research interest in non-invasive monitoring, and keen to develop a service for Alstrom children and their families. He hopes that by following up the same children over many years, we will be able to detect subtle changes in the heart that will forewarn of future cardiomyopathy. If this turns out to be the case, then we would have the opportunity to offer children treatment to delay or reverse these changes. In addition, this year I met with Richard Paisey and the young people in transition from the child to the adult parts of the clinic. This was very helpful and gave us the opportunity to hear what services they wanted from us. We hope that this will become a major part of the autumn medical screening clinic in future years. Away from the clinic, I have had lots of work to do with our business manager David Eltringham, about setting up dedicated clinics for Alstrom children at Birmingham Children's Hospital. We would like to offer a 'one stop shop' where families can get medical assessments, counselling and meet with other families all on the same occasion. These need not include blood tests, which many families prefer to have done locally. However a big part of our role as doctors is to advocate on behalf of our patients, so hopefully coordinating and advising on medical care, and fighting for social, financial and other support, will be useful roles we can perform. That's all for now, thank you all for coming in October and I hope to meet many of you again next year! best wishes Tim Dr Timothy G Barrett Reader/Honorary Consultant Paediatric Endocrinology and Diabetes, Institute of Child Health, University of Birmingham c/o Diabetes Unit Birmingham Children's Hospital, Steelhouse Lane Birmingham B4 6NH Tel: 0121 333 9267 Fax: 0121 333 9272 From Lee Dobson I am a Consultant Physician working at Torbay Hospital who specialises in lung disease. I was appointed to the post about 2 years ago and have recently been asked to join the Alstrom Syndrome Scientific & Medical Committee. One of my other interest areas is Cystic Fibrosis, which in many ways has much in common with Alstrom Syndrome. This is a fascinating condition for which there is still much to be learned. More recent evidence would suggest that patients commonly report chest symptoms but whether this reflects a specific lung problem within patients with Alstrom Syndrome remains to be seen. I am sure this is why I have been asked to join the committee and hope to look into this in more detail. I also look forward to meeting you all at some point in the future. ' Claire Rockett. I thought the conference was very interesting, and despite having to use my bedroom as a make shift audiology room doing the hearing tests over the weekend and not on the Monday worked very well. I managed to get all but 1 person tested, Richard Paisey I would like to put forward the following brief items: 1) Dr Tim Barrett and I are going to the Department of Health on 9th December to discuss terms and conditions of Government funding for Alstrom clinics in England.We hope to represent the wishes of families and consolidate the link with family support from AS UK. 2) The AS conference of Oct 2005 was, from a professional standpoint the best yet. The other speakers and the family's involvement were excellent. It felt appropriate to have the adolescent group reviewed separately and we would wish to repeat this year by year. Many thanks to Birmingham Children's hospital and AS UK and of course the families. The Genetic Key to Diabetes ( Re-printed with kind permission of Exeter University – pictures courtesy of the Welcome Trust) Scientists are in the business of making discoveries. But Andrew Hattersley of the Peninsula Medical School has turned his discoveries into treatments and trained healthcare staff to use them. He and his staff at the Diabetes Genetics Centre have discovered new diabetes-causing genes and then used that knowledge to directly improve patient care. Professor Hattersley’s field of expertise centres on diabetes caused by a change in a single gene known as “monogenic diabetes”. Less common than Type 1 and Type 2 diabetes which affects 200million people around the world, it nevertheless affects up to 50,000 people in the UK alone. Often patients have received in correct diagnosis and treatment. Many sufferers are babies or children and the requirement for daily injections of insulin and the difficulties of stabilising diabetes in the very young have a serious effect on their quality of life. Professor Hattersley and his team have worked to understand the precise genetic mutations which cause the disease in individual patients and found that this can have a marked effect on the type of treatment required. In particular, the Centre’s work showed that drugs which are effective in patients with the normal form of type 2 diabetes could be four times more effective in patients with the most common genetic form of monogenic diabetes. The discovery has released hundreds of patients from the need to inject insulin. They have been able to transfer from injections to tablets even after many years of injecting. Similarly, some patients, diagnosed with diabetes in the first six months of life who produce very little insulin can be treated with sulphonylurea tablets instead of insulin injections. The transfer from injections has transformed the lives of these patients and their families who can now avoid blood sugar values that are both too high and too low. One mother of a diabetic child, Emma Neighbour, said: “He’d gone from a child who was either completely manic because his sugars were through the roof or lethargic and grumpy because he was having a hypo, to a normal child. I really can’t believe it…………It’s made a huge difference”. Patient Mary Lee said: “I refer to it as the best blood test I ever had- the one that was to liberate me from the restraints of insulin injections. After 27 years of insulin injections I began to take tablets instead. As the genetic sub types of diabetes were unknown until the 1990’s integrating this new genetic knowledge into clinical care is a major educational problem. Most healthcare professionals have had little or no training in genetics. In order to increase the recognition of patients with genetic subtypes of diabetes and provide appropriate treatments, Professor Hattersley and colleagues have launched a variety of educational initiatives. These include a web site www.diabtesgenes.org for patients and professionals. Most importantly, with funding from the Department of Health, Maggie Shepherd, the lead research nurse, and Dr Sian Ellard, who runs the laboratory testing, have now set up an innovative programme to train diabetes specialist nurses throughout the UK in genetic diabetes. The nurses then act as regional co-ordinators for the education and management of patients. Future work, for which funding has already been obtained will support new initiatives. The Centre will continue its studies in monogenic diabetes including identifying new genetic sub types of diabetes and the development of individualised treatments based on the gene that is mutated and the characteristics of this mutation. A major future challenge is to define the genetic susceptibility to type 2 diabetes, and to use this information to improve both treatment and prevention. This will only be achieved if studies can be performed with a large enough sample size to enable the multiple genetic components to be defined. The Centre has collaborated with colleagues in Oxford, Imperial College, Queen Elizabeth College, London, Cambridge and Newcastle to establish a unique collection of DNA from patients with diabetes and has played a central role in collaborations both within the UK and Internationally. This trailblazing work is important because it points to the next phase of medicine. Rather than trying to define what is best for a group of patients with a condition such as diabetes it becomes important to sub divide this group so that doctors can make a more individualised choice on medicines that are best for each individual patient. Technology news BRAILLE TRANSLATIONS. Braille translations provide a fast, cost-effective, high quality service of translating any document into Braille. We are able to provide Braille Menus, public leaflets and business cards in Braille and help make you compliant with the disability discrimination act. We can translate from large print, audio tape or audio cd. We can also help with premises accessibility including Braille tactile signs for toilets and other doors. All work is proof-read before dispatch and we are able to provide an express 24-hour service. Please call our offices for an immediate quotation or for further info nation on free phone number 08000 190946; Mobile: 07903 996533; Email ghow@brailletranslations.co.uk http://www.brailletranslations.co.uk Writers call for blind book funds A talking book costs about £2,500 and takes five days to record Leading authors have called for the government to act to help end the "book famine" faced by the blind. Crime author Ruth Rendell and Gosford Park writer Julian Fellowes are backing a Royal National Institute for the Blind (RNIB) call for Government funds. The RNIB, which is marking its talking book service's 70th anniversary, says 96% of books are not available in audio, large print or Braille form. Mr Fellowes said the government needed to "get involved" in funding services. Mr Fellowes, the chairman of the RNIB's talking books appeal, said: "It is a really useful thing and it is not exactly neglected, but there is a kind of acceptance that it is just the job of charity to do it. "There are 10,000 titles which, of course, is great, and I don't mean to diminish that, but there are 100,000 books published every year so that shows how little access the blind have to our output. "I just think it is something governments have to get involved in." Children's author Jacqueline Wilson is also backing the RNIB's fundraising appeal, entitled Give the Joy of Reading. Support bid Subscribers pay £70 per year for access to the RNIB library. Books are sent out on CDs and played on machines specially designed for those with poor sight. Author Julian Fellowes has voiced six talking books for the blind. RNIB spokeswoman Ciara Smyth said: "We want the government to support us so that we can work in partnership with publishers and other organisations so we can produce more books, because 96% of books are not produced in accessible formats. "We have got to be able to do something to produce more books." Since the service began, some 75 million talking books have been lent to people with sight problems in the UK. The Talking Book Service was developed for the thousands of servicemen who were blinded in the trenches of the First World War. The first recordings of books were sent out on 7 November, 1935 on long-playing records and included Typhoon by Joseph Conrad and The Murder Of Roger Ackroyd by Agatha Christie. Smart card to open up computing Customisation will be possible in a variety of environments. Intelligent cards that enable visually impaired people to customise computers and ATMs automatically have been unveiled at a conference in Birmingham. The Special Needs Application Program Interface, or Snapi, puts a user's preferences on a smart card. The cards can be used in cash dispensers, ticket machines and public access computers. Once a Snapi card is removed, the machine automatically returns to its default settings. The technology was developed by the Royal National Institute of the Blind (RNIB) in collaboration with Suffolk County Council and two companies based in the West Midlands. Use in libraries Snapi was unveiled at the RNIB's annual gathering for technology professionals with an interest in assistive technology - Techshare - which takes place ion Birmingham between 17-18 November. There is a number of possibilities for various disabilities. The idea is to make life that little bit easier Dr John Gill, RNIB Snapi is software which standardises the coding of individual preferences so they can be stored on a smart card. The idea has already attracted the interest of local authorities, the Home Office and the banking industry. "I imagine that local authorities will start using it either later this year or early next," John Gill, RNIB chief scientist, told the BBC News website. Dr Gill says the first application of the new technology will be for public computers in local libraries. "These PCs are predominantly for those who don't have internet access at home - sometimes children, sometimes older people," he said. While many people tinker with these machines to change font sizes, colours and contrast, this does mean that the next user has to reset the computer or tweak it for their use. Snapi could make the whole process much smoother by storing a user's preferences on their library card and have a computer react to this information when it reads the card. Wide use Other information about a person's access needs can also be included so that, for example, staff at leisure centres will know to speak slowly and clearly to someone who has a hearing impairment. "This would be entirely the user's choice as to whether they wanted that information included, but it would avoid the need to explain their condition repeatedly," said Dr Gill. Public access computers can also be adapted to suit the user"There is a number of possibilities for various disabilities. The idea is to make life that little bit easier." The Department for Transport has already incorporated the new standard into its specification for ticket machines. And the banking industry has said that it will implement Snapi at some point in the future, but no date has yet been given. For Dr Gill, the appeal of the technology is that it stores information about a person's preferences rather than about their disability. "For example, if a person chooses large characters it may simply be because they don't want to wear glasses in public." One limitation is that not every machine will be able to comply with what the user wants: a user may well request speech output from a cash dispenser but very few ATMs currently have speech enabled. The Home Office has expressed initial interest in adding the coding to ID cards. But Dr Gill stresses that this would be completely separate from someone's personal information. "You could put it into a ticket machine and pay with cash - it wouldn't need to know who you were, just your preferences for using that machine," he said. Techshare is at Jury's Inn in Birmingham on 17-18 November. Jan’s Recipe After the richness of food at Christmas, I find it a relief to get back to more simple tastes. The combination of mashed potato and fish in these fish cakes, which are baked rather than fried, is healthy, light and satisfying. BAKED FISH CAKES 125g each of salmon & smoked haddock fillet skinned 2 large potatoes(400g), peeled and cut into chunks 25g butter or poly unsaturated margarine salt& pepper 15ml (1level tablespoon) each chopped parsley, dill and chives or 1level teaspoon dried dill 2 eggs 50g plain white flour 90g fresh white bread crumbs Sauce 2 tablespoons tartare sauce or hollandaise sauce 2 tablespoons plain yogurt 1. Place the potatoes in a saucepan, cover with water, bring to the boil and cook for about 15 minutes or until they are tender. Drain, mash with butter and set aside. 2. Meantime poach the salmon and haddock by placing them in a frying pan, add sufficient water just to cover, bring to the boil, lower the heat and cook gently for about 10minutes. Alternately, microwave them in a covered dish for 3-4 mins on high power. Strain, cool and flake the fish, removing any bones... 3. Add the fish, herbs and 1 beaten egg to the mashed potato. 4. Turn mixture onto a floured surface and flatten the mixture with your hand to 2cm thick then cut out 7cm cakes with a round cutter – this should produce about 8-10. Chill for at least 1 hour 5. Preheat the oven to190ºC (Gas mark 5) 6. Beat remaining egg - dip fishcakes in flour, egg and finally bread crumbs. 7. Place the fish cakes on a slightly greased non stick baking sheet and bake for 20 minutes turning over once. 8. Make dip mixing the yogurt with the sauce. Serve with wilted spinach, steamed vegetables or a mixed green salad Fish cakes freeze well - defrost before reheating in the oven on a tray at 200ºC for 10 minutes. AS UK Editor Sean Waiting - Says Hello and rounds up news from our families. Hello to our families. Happy New Year and I hope it is a healthy one. If I can just go back to the conference in 2005 first, having the young adult patient’s meeting on the Sunday night in the conference room is better, we talked about hearing aids, and equipment which I have in my house at the time of writing. There were three guide dogs at last year’s conference which was a first for Alstrom Syndrome UK; I hope we can keep this up for 2006. If you have moved house or changed your telephone number please can you please send them to Kay Parkinson as soon as possible. Hi I have come across this via J-J's mobility man. I had a look and looks ok but what the quality is like ???? I don't know. The web site address is www.azabat.co.uk have a look and see what you think. Best Wishes Jane Note from the editor I have had a look at this website, some of the games you will have to pay for. Here you go; a couple of pieces of news: Donation from Simon Miller On 3rd December, a charity auction at Dragonmeet 2005, a games convention,raised £600 for ASUK. A similar amount was raised for another charity CLICSergeant, which deals with cancer and leukaemia in children. We'd like tothank Gameforce Ltd, the organisers, the auctioneer James Wallis and all the successful bidders for this excellent work.http://www.dragonmeet.com Search the web and earn money for ASUK Raise money for Alstrom Syndrome UK just by searching the web. everyclick.com is an internet search engine with a big difference - it donates half its revenues to charity! It does not cost us, or you, a penny. Now you can support Alstrom Syndrome UK every time you search the web. Just make http://www.everyclick.com/uk/alstromsyndromeuk your home page and make sure you use it whenever you search theweb! From Simon Rogers website manager. A Note from the editor I have used everyclick my self and find it helpful. News from Kerry and Kion Hello there everyone Hope that you all had a good Christmas and that Santa brought you all that you asked for!! Kion had a fantastic time this Christmas. He was so excited. I am going to try my best to get funding to take him to Lapland next Christmas. He will be five by then and hopefully will still have some useful vision. Our ninth month old Labrador pup died on the first of December due to having an enlarged heart (of all things). KIon and I were devastated. However, Kion did very well to accept it and I was really proud of him. We have just chosen a Golden Retriever pup and we pick him up on the twentieth January after we get back from a short break in Centre Parcs. Kion is well at the moment apart from a cough that he tends to have first thing in the morning that will not go away. When Kion gets a cold it nearly always goes to his chest so I have now asked for him to be referred to a specialist. He looks very well too. He has lost a little bit of weight and now weighs what he did eighteen months ago. He has grown quite a bit too. I have worked hard on his fitness this year and he can do so much more now. I bought him a go-kart for Christmas and he his like lightning. I look very comical running down the street trying to keep up with him!! I hope that you are all well. Love to you all Kerry Please send articles for the next newsletter to Mr Sean Waiting by e-mail sean@waiting6415.freeserve.co.uk or ring 01229 832672 by April 19th 2006 Alstrom Syndrome UK Family Conference 2006, October 21st and 22nd Yew Tree Lodge Hotel, Packington Hill, Kegworth, Derby DE7 2DT www.yewlodgehotel.co.uk AS UK Directors contacts. Margaret Livingstone (Parent) Hillside Cottage Rejerrah Cornwall TR8 5QE Tel 01637 830057 cornwalljoiners@aol.com Jane Entwistle (Parent) 148 Fromond Rd Winchester Hampshire So22 6EF Tel 01962 623476 e-mail jane.entwistle@hants.gov.uk Dr Mike Hales -Chairman 166 Goodrington Rd Paignton S Devon TQ4 7HX Tel 01803 843227 e-mail mike@mhales.fsnet.co.uk Kerry Leeson (Parent) 58 Constable Close Flanderwell Rotherham S York S66 2XG Tel 01709 709430 Simon Rogers (Parent) 16 Northbourne Rd London SW4 7DJ Tel 0207 4980587 e-mail simon@profantasy.com Sean Waiting ( Alstrom Syndrome) 7 New Leys Barrow-in- Furness Cumbria LA13 9DP Tel 01229 832672 e-mail sean@waiting6415.freeserve.co.uk Advisors (Non- Executive) of the Alstrom Syndrome UK:Medical and Scientific Board are : Dr Richard Paisey- Chairman Dr Cathy Carey Mr Seamus Mc Dermott Mrs Kathleen Williams Ms Debbie Hodge Ms Clare Rocket Dr Tim Barrett Dr Jamie Smith Members of the Medical Board can be contacted through Kay Parkinson Tel 01803 524238 or through Torbay Hospital switchboard 01803 614567 ALSTRÖM SYNDROME UK 2006 1 Issue No 22 WINTER 2006 - - ALSTRÖM SYNDROME UK 2003