Charity No: 1071196, Registered Company Ltd by Guarantee, No: 3557191 NEWSLETTER No. 24 Autumn 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 Article in BOOTS Magazine page 3 John and Kay Report … Page 4 Medical News……..Page 5 Technology news ~ Page 9 Jan’s & Charlotte’s Recipe ~ Page 14 Editor reports on Family News … Page 15 Directions to Yew Lodge Hotel Page 19 Contacts … Page 20 Chairman’s Editorial At the last director’s meeting I am delighted to say Kerry Leeson was elected to the chair of Alström Syndrome UK. I would very much like to welcome her and also wish her of every success. As you know Kerry is mother of Kion who has Alström Syndrome so she will bring with her a different very valuable set of experiences and abilities derived from personal knowledge of the condition. She will take over formally at the AGM which will immediately follow the annual conference. I wish Kerry all the best in this new role and assure her of my continuing support. Also elected to the board at the same meeting was Kerry’s father, Phil who as a professional accountant will also act as our treasurer and Brian Vasey who as a father of Curtis and Taylor will further strengthen family representation on the board. I would like to welcome them all. Last week Jan and I visited our eldest daughter Victoria (the one who with husband Anthony ran the marathon for us last year). She has just given birth to their first child – a boy they have called Joseph. Naturally it was a very happy time with lots of photographs taken and much commenting on which members of the family he looked like. (No one seemed to think he looked like me so possibly the little chap has a chance in life)! When we returned to Paignton though, we heard that the 41 year old son of a friend had died suddenly and completely unexpectedly of a brain haemorrhage. These two events, one imbued with the hopes and expectations of a new life, the other, heavy with sadness of a life left incomplete, reminded me most forcibly how unpredictable our existence is. None of us can foresee the future. Just around the corner may be the greatest disaster or the most unimaginable good fortune. In many respects we have no choice but to play the cards life deals. Whether it is inherited eye colour, short legs, big thighs, high cholesterol or Alström syndrome, we all start with some aspects of our life set out for us. This though is not the end of it. I believe fervently that how we live our lives – what we do with all those other bits which we can affect says far more about us than the cards we pick up when we are born. When I first met you folks, who appeared to have been hit so hard by the lottery of inherited genes, my first reaction was to feel sorrow and sympathy for you at the unfairness of life. However as I got to know you, that was soon replaced by admiration at the way you simply got on with the business of life dealing with the problems of AS on the way but not being dictated by them. Certainly the problems are serious and deserve respect. Such things need to be dealt with in the best possible way using all the skills and knowledge of our doctors. They can end lives. But so can traffic accidents, brain haemorrhages, or lightening bolts. By your many examples you have made me realise that where we start in life is not the most important thing. Far more important is where we end up with family, friends and relationships made along the way. These are all far more important. Thank you all for that lesson. Mike Hales Chair Alstrom Syndrome UK Article prepared by BBC Children in Need to be published in the Boots Health and Beauty Magazine on Kion, 5 “I like to play with my cars and trucks. I like to have my friends from school round for tea. My favourite song at the minute is ‘I Predict a Riot’ By the Kaiser Chiefs. My Mum thinks this is very appropriate!” Kion likes all the typical things that any other 5 year old boy does. Kion’s first 18 months were very untypical however. His mother was told that he probably would not survive. “I was told he probably had a virus that entered is heart. We then noticed a problem with his eyes. I was told he may lose sight at some point and he was registered partially sighted. I could not believe that all of this was happening to my child. “I was then seen by a geneticist who told me Kion could have on of two things, one of which was Alstrom Syndrome. He said he would take our blood and that we may not get a result for a year and that I may not get a result at all as they were not sure whether there was a hospital in this country that could diagnose it. That was all they said! “I then had to go and do the research myself and that is when I found John and Kay at Alstrom UK. Alstrom Syndrome is a very rare recessively inherited genetic disorder with symptoms including childhood blindness, early hearing loss, diabetes, cardiomyopathy and kidney failure. Alstrom UK provides support and guidance to families affected by Alstrom Syndrome. Families can attend clinics and conferences which enable them to meet other families BBC Children in Need has funded ongoing costs to the charity, totalling over £165,000 since it was founded in 1998. “I was 19 months old when my Mum first spoke to Kay Parkinson and told her that she thought I may have Alstrom Syndrome. I go to the conference every year and I also go to the new clinics at Birmingham. I have fun! My mummy goes to a meeting and I go out on a day trip with other children with Alstrom syndrome. I had a laugh with Curtis and Talylor at the last conference because we were singing on the karaoke. It’s nice to see that other children can’t see very good like me and that they also have to go to hospital too. I don’t feel so different then. “ Kerry and Kion John and Kay Parkinson Report Hello everyone- firstly a big thank you to all of you who have attended the NSCAG funded Alstrom Syndrome multi-disciplinary clinics – we’ve all got to use them or loose them! It has taken many years of hard work by Alstrom Syndrome UK together with doctors from Torbay and Birmingham hospitals to get Alstrom Syndrome recognized as needing specialized care within the NHS. Since April 2006 here in the UK we are the first country to hold regular state funded multi-disciplinary Alstrom clinics. We hope to be able to build on this expertise by attracting research funding to look at the many aspects of the disorder which affect our children and young adults. This is a tremendous achievement for a support group and is entirely due to our user led approach, our committed doctors and our families who have voted with their feet and united and supported all of our AS UK efforts. We are not stopping here- Margaret Livingstone our new Education Chair is currently writing to Ministers to get Alstrom’s children educational needs properly assessed- there can be no excuse now we have state recognized experts in Birmingham and Torbay who can advise on sight problems, hearing problems, exercise and diet as well as other health problems which may affect our children at school. We are also very pleased to welcome Phil Leeson to our Board as our Treasurer- Phil is proud dad of Kerry and Kion’s granddad. As a chartered accountant Phil’s’ skills will be much used by our charity and he will act in the procurement procedures for the charity between Torbay and Birmingham Hospitals. We are looking forward to seeing you all again at our annual conference at our new venue Best Western Yew Lodge Hotel, Kegworth, Birmingham. As you all know AS UK has never asked for money from families’ attending- we do ask however that you bring something to auction at our GRAND Charity Auction to be held after the Welcome dinner on Saturday 21st October. This will help AS UK’s funds. Also we need more volunteers to help with the children day out at Conkers World- so if you know of anyone please contact Kay Parkinson 01803 524238 info@alstrom.org.uk The next directors meeting will be on Monday the 23rd October in the Yew Lodge hotel so please let talk to our Directors during the conference and let them know your needs and wants from the charity. And don’t forget……. Alstrom Syndrome UK Grand charity auction on the Saturday night after the welcome dinner, so please bring something to be auctioned. See you all soon- Best wishes from the Parkinson’s Alstrom Syndrome UK. Medical News Embryo test 'offers parents hope” By Caroline Ryan BBC News, Prague A new embryo test offers couples at risk of serious genetic diseases a greater chance of having an unaffected baby through IVF, UK scientists say. The test looks at the whole DNA of a cell rather than focusing on a specific mutation in one gene, making it quicker to identify diseases in embryos. It also allows doctors to check for many more potential illnesses. The team will tell Prague fertility conference that five couples are expecting healthy babies after the test, and IVF. However, some campaigners have questioned the morality of such screening tests, as they inevitably lead to the destruction of some embryos. The new "DNA fingerprint" test of a cell can spot from a genetic signature that a condition, such as cystic fibrosis, is present, the scientists behind it say “until now, you really had to know the mutation to do a direct test-now that doesn’t matter” (Alison Lashwood- genetics Team nurse) The team, from the genetics unit at London's Guy's Hospital, have developed a method called pre-implantation genetic haplotyping (PGH), which they expect to offer to over 100 families a year. The current test is known as pre-implantation genetic diagnosis (PGD). 50/50 chance PGH involves testing parents and any existing children or relations carrying or with a genetic condition, to identify the faulty units of chromosomal DNA. Linda Ball, whose son has muscular dystrophy “ It's absolutely brilliant because it gives people in my situation more of a choice. I love my little boy, I wouldn't be without him, but it does give people the option of not having to watch their son die” Using this information, it is possible to take a cell from the embryo, treat it in the lab to create more copies of its genetic material and then look for markers that show an embryo carries two copies of these faulty units, or haplotypes. This would mean it would be affected by the condition. The technique has been used to test for Duchenne Muscular Dystrophy (DMD). It primarily affects boys, who inherit the disease through their mothers. Families with a history of the condition are currently offered embryo sex testing and no male embryos are implanted, as it is not possible to tell if they have the condition - even though they have a 50/50 chance of being affected. But with the new test, doctors are able to see if an embryo carries the tell-tale DMD haplotypes seen in its parents, meaning more embryos can be selected for use. Genetic trail The test also allows detection of any of the genetic mutations which can cause cystic fibrosis. “I am horrified to think of these people sitting in judgment on these embryos “ Josephine Quintavalle Comment on Reproductive Ethics Like DMD, it is a recessive disease, and means both copies of chromosome 7 must carry a fault for a child to have the disease - but PGD can spot only the most common of the hundreds of faults. The team have also helped a woman affected by hydatidiform mole - a condition where pregnancy leads to a potentially fatal tumour forming inside of a foetus. Professor Peter Braude, the fertility specialist who helped develop the test, said: "It doesn't matter what the genetic fault is. "We can know the same chromosome that has affected a family member, and know the embryo is also affected." No flood' Alison Lockwood, a nurse who is part of the genetics unit team, said the bottom line for couples who came to see her was the wish for a healthy baby. "Until now, you really had to know the name of the mutation to do a direct test. Now that doesn't matter. "With sex linked disease, you would currently have to take away probably 50% of embryos because they are male. "But with this test, you might get up to 75% of embryos for transfer." However she said the new test would not lead to a flood of people wanting to take advantage of the science. "Of the patients currently referred for PGD, only a third ends up going through a cycle. "These are, generally, couples who can get pregnant without having to undergo fertility treatment, and when they get to know what it involves, many do not go ahead." Dr Mark Hamilton, chairman of the British Fertility Society, said: "Any technique which has the potential to reduce the risk of serious, debilitating and potentially life-threatening disease has to be greeted with some enthusiasm. "We are always striving to maximise the chance that fertility treatment will be successful. "But not transferring because we are absolutely confident they are affected by a condition, rather than because we suspect they are, is preferable and much less wasteful." But Josephine Quintavalle, of Comment on Reproductive Ethics, warned against further extensions of screening. She said: "I am horrified to think of these people sitting in judgment on these embryos and saying who should live and who should die." Rare Disease Database Breaks Down Research Barriers The University of Manchester is hosting the UK arm of a database to improve the diagnosis, care and treatment of people suffering rare diseases across Europe. A new element of this is the directory of research projects for rare diseases. The Orphanet website – http://www.orpha.net – gives researchers, health professionals and patients free access and exchange of information on 3,600 genetic, auto-immune or infectious rare diseases, rare cancers, or not yet classified rare diseases. It also holds information on ‘orphan drugs’ – drugs which are intended to treat diseases so rare that sponsors are reluctant to develop them under usual marketing conditions. Orphanet, founded in France in 1997 and now run by a consortium of international partners, includes a rare diseases encyclopaedia, which is expert-authored and peer-reviewed, and a directory of services. This directory includes – *     information on specialised outpatient clinics *     diagnostic laboratories *     research projects *     clinical trials *     professional networks *     disease registries *     support groups Patients and the general public as well as scientists and health professionals can access the website to be kept up-to-date with information about specific conditions and also any relevant services and support groups available. Professor Dian Donnai CBE, Orphanet UK’s project leader, said: “This website is an amazing tool for clinicians, patients and researchers alike. It could lead to collaborations across borders and disciplines, taking research in new directions. This will lead to great improvements in the care of patients. These are people who are suffering a rare and thus sometimes lonely condition, so the fact that they can access the website is an important element.” Emma Gillaspy, who runs the UK branch of Orphanet in the European Project Office at the University’s North West Genetics Knowledge Park (Nowgen), agreed and drew attention to the new and important part of the database ‘The Directory of Research Projects for Rare Diseases’: “In France, most people starting a research project contact Orphanet to register their activities– we want to see the same situation here.” Researchers register with the website, giving the title of their study, a short description and contact details for further information. It then can alert other researchers, clinicians and patients to the work. Emma added: “The researcher doesn’t need to give sensitive or confidential information, just the fact that there is a project and whether they wish collaboration or samples. The service is free and because it is EU-funded we do not own any the projects, unlike other organisations. There are so many benefits and possibilities – it is well worth a visit.” For more information Contact Dr Emma Gillaspy (0161 276 3203, emma.gillaspy@cmmc.nhs.uk) European Projects Office, Nowgen - North West Genetics Knowledge Park, The Nowgen Centre, Grafton Street, Manchester, M13 9WU. You can also contact the University of Manchester Media Relations Officers, Mikaela Sitford or Jo Nightingale on 0161 275 2111/8156. NSCAG clinics and Research Studies (2006/2007) Now that AS UK with Torbay and Birmingham Children’s Hospital have made a start with review clinics for Alstrom families, we wish to focus research efforts more cogently. Some data has already been gathered and four presentations have been made to Diabetes UK which now requires fully writing up and submitting for publication in scientific journals. This will increase awareness of the condition and its best treatment amongst medical and scientific communities. The four areas of work are: a) The absence of neuropathy in the syndrome- diabetes has not been found to cause loss of sensation in the feet which can be such a problem in even younger persons with standard forms of diabetes. b) Defining the pressures on the heart and the best bedside and blood test measurements to assess them. c) The place of insulin treatment for diabetes in the syndrome-is it ever helpful/ what are the safest alternatives. d) Best treatments for high blood fat levels. In the future we hope to extend these observations and others jointly with AS UK. Clearly we wish to scrupulously obtain ethics committee consent where appropriate and plan the most cogent grant applications. Richard Paisey Torbay Hospital July 2006 From Clair Rockett As for children in school they would benefit from either some form of loop system or radio aid. This would enable them to hear the teacher over the classroom noise. October -Birmingham Children’s Hospital Clinics Children living to the NORTH of Birmingham are invited to attend an Alstrom Syndrome Multi –Disciplinary Clinic at Birmingham Children’s Hospital on Saturday afternoon 21st October. Children living to the SOUTH of Birmingham are invited to attend an Alstrom Syndrome Multi-Disciplinary Clinic at Birmingham Children’s Hospital on Monday morning 23rd October. If you want your child to be seen at these clinics contact Kay.parkinson@alstrom.org.uk ASAP. Tel 01803 524238 Technology news The Living Paintings Trust Bringing Pictures to Life The work of The Living Paintings Trust, a national charity, stimulates new interests and feeds the imagination of blind and partially sighted people. We achieve this by designing and manufacturing unique touch and sound packs. These are delivered to any visually impaired person anywhere in the UK or Ireland via a postal library service. "Lucy read the Living Picture Book you sent us on her own and sometimes she read it to her sighted brother of 3½ years old. They didn't want to let the book leave the house; they wanted to keep it forever." The Service is completely free of charge to the fast growing number of visually impaired people we reach. It is a principle of the Trust that we ensure that all those seeking to benefit from the Service can do so without the constraints of location or money. Working on an annual budget of only £200,000 - £240,000 our work benefits over 5,000 blind and partially sighted people. "Words cannot express how I felt when I opened the box containing these pictures. I am a totally blind widower and spend most of the days on my own. I have been blind for many years and vaguely remember colours. I am just so excited about this marvellous new adventure. I cannot thank you enough for bringing such joy and pleasure into my life." The Living Paintings Trust What We Do We help blind and partially sighted people share in the visual images that colour and inform all our lives. By doing this we not only open up a whole world of interest and enjoyment but we also encourage them to broaden their horizons, helping them to lead better, richer lives, and to overcome the isolation they experience. For children our work specifically supports the development of essential life skills - touch and listening, language and vocabulary, reading and communication, as well as the visual concepts such as colours, relative size and the representation of objects in the form of raised images. We present the visual images to be shared in the form of unique touch and sound packs that we create ourselves. Each of these is made available for loan via our free, postal Library Service. There is a wide range of topics available within our packs which are especially designed for adults and children that can be used both at home and in school. The essential components of all our touch and sound packs are threefold: 1. Raised images, known as thermoforms, which explain the special shape and characteristics of the pictures that are being "looked" at through touch; Works of art from the royal collection. 2. Audio descriptions which tell the stories of the pictures, describe their wonderful visual features and provide instructions for touching and interpreting the thermoforms; 3. Colour reproductions of the pictures that, very importantly, make it possible for the packs to be shared with sighted friends, family and peers. With adults we share collections of works of art that are carefully brought together to reflect the interests of those we seek to help whilst providing access to the visual treasures to be found across the UK and further afield. Subjects covered range from painting, through sculpture to architecture dating across the centuries to the modern day. For children there is a fast growing range of packs. They include Living Picture Books which bring the magical world of illustrated story books to life and Teacher Resource Packs which are designed to include visually impaired pupils in the visual aspect of everyday classroom studies. In the Rain with Baby Duck We receive no statutory funding and so all our work is made possible by the generous support of those who choose to make donations. The money they give goes as far as it does thanks to an amazing group of volunteers who help us with all aspects of our work. If you know someone who could benefit from our Free Library Service please contact us on 01635 299 771. The Service is made as easy to use as possible. Who we are Our work is overseen by a team of Trustees with varied skills and interests including art, business strategy, charity sector, education, finance, human resources, law. One of our Trustees is blind while another is a teacher of visually impaired children. Our Charity Director, Camilla Oldland has managed the Trust's activities for 12 years. She is assisted by 5 experienced staff, 2 full time and 3 part time. The Trust is strongly supported by an amazing team of 120 volunteers. They give of their time to help produce the packs, provide the postal Library Service and liase with our Library Members. They make it possible for the money given to go as far as it does. Some might wonder why all these people are there for us, committing so much of their time and energy. The answer is the children and the adults who cannot see and for whom our work means so much. They are our friends, they are why we are here and daily they let us know how important it is for us to continue. Recognition of our work We are a small national charity benefiting an ever-increasing number of blind and partially sighted people, now over 5,100. Since our ground breaking work began15 years ago the Trust has been fortunate to have its achievements recognised by others: the receipt of a prestigious National Arts Collections Fund award for "an outstanding contribution to the creative arts"; our founder and Chairman, Alison Oldland, receiving the first Guardian/Jerwood Award for individual excellence in the charity field and the MBE; a Lottery Fund grant of £92,000 in 1996 to develop work with young people; and a Foundation for Sport and the Arts grant of £60,000 in 1999, which helped the Trust acquire its premises, thus providing more stability for the future operation of its Library Service. However, as much as this recognition is important, it is the growth of our work and what it means to our beneficiaries which is our real success. Our future Not only are we working hard to keep up with our growth but we are also looking to the future in the most positive way - we have a Development Programme - ShareVision 2010 - that is ready to be implemented as soon as we have the financial security. Living Paintings Trust Queen Isabelle House, Unit 8, Kingsclere Park, Kingsclere, Newbury, Berkshire, RG20 4SW Tel: (01635) 299771 Fax: (01635) 299771 E-Mail: lpt@livingpaintings.org Reading 'to go' for blind people By Geoff Adams-Spink Age & disability correspondent, BBC News website The new device allows people to read on the move A portable scanning device that reads text to visually impaired people will go on sale in the UK next month. Called the K-NFB, it is the latest product to be developed by American inventor Raymond Kurzweil. Until now, scanning and text-to-speech output meant having to take the printed material to the hardware. The K-NFB, which combines a PDA and a digital camera, means that people will be able to read menus, train timetables and product labels in shops. High price tag The new handheld device is the latest in a long line of hardware and software developed by Raymond Kurzweil. His first Reading Machine in 1981 was the size of a washing machine and cost £35,000. For the first time, you'll be able to take the scanner to the print rather than the other way around Mark Prouse, RNIB Although the K-NFB is considerably cheaper, its price tag of £2,625 is substantially more than the cost of a PDA and a five-megapixel digital camera. "This has probably taken something like three years' effort by some fairly diligent scientists," explained Mervin Robertson, managing director of Sight & Sound Technology, who will be selling the device in the UK. "Effectively, it's a software cost that makes up the vast majority of this." The K-NFB gives the user an initial "situation report", describing what it can see. The user then makes a decision about whether to take a picture. After a few seconds to process the image, the contents of the document are read aloud. A set of earbuds come as standard, but the sound could also be routed through a Bluetooth headset or a set of speakers. Sight & Sound says it will help with the ad-hoc reading of documents such as bills and receipts, instructions on food packaging or medication or emergency evacuation notices in hotels. According to Mr Robertson, the biggest limitation is the power of the host PDA. "It's never going to be the powerful device that the PC is," he said. The prototype has also experienced difficulties reading inverted text, for example white text on a black background. But Sight & Sound is confident that bugs will be ironed out before the production version goes on sale. Good reception Manufacturers have decided not to use the Pocket PC 2003 platform and have opted for Mobile 5 instead. In the early eighties the hardware was bulky "Pocket PC has inherent problems in that if the battery goes flat, you tend to end up with a device that is pretty worthless because you have reload all the information," said Mr Robertson. "That is challenging in itself for a blind person." Using Mobile 5 will effectively keep the device intact if the battery goes dead. The K-NFB received an enthusiastic initial welcome from a member of the Royal National Institute of the Blind's (RNIB) products and publications team, Mark Prouse. "This is fantastic. For the first time, you'll be able to take the scanner to the print rather than the other way around," he said. "The price is a bit of an issue, it is with all of these things. But to be able to read as and when you want is very exciting and very tempting." A note from the editor.This is now on the market. From Sean Waiting. I went to a talk on Wednesday morning about mobile phones below I will put some tips to follow when getting a mobile phone for a blind person. 1. Take the blind person with you so they can feel the keys on the mobile phone they can tell you if the phone is going to be user friendly. 2. Make sure the mobile is a nokia phone so the speech software can go on it. 3. Ask the shop assistant to send the mobile phone off to Vodafone or orange for the speech software to be put on it. I asked the question about speech onto mobile phone, the question when went like this: Blind and partially sight people would like speech on the mobile phones when they get it out of the box, this is not happening and RNIB are going to look into it. If you are going to buy a mobile phone with 3g network on it don’t because speech software does not work on it, RNIB are doing tests to get the software to work. If you are going to buy for a blind person can I recommend that you call RNIB first on 0845 766999 and ask for a fact sheet on mobile phones. Wearable sat-nav system to help blind people handle new terrain James Randerson, science correspondent Tuesday August 15, 2006 The Guardian A computerised tracking system is being developed to help blind people navigate in unfamiliar territory. The prototype system guides the user through a cluttered landscape such as a city street by giving audio cues. The researchers say the System for Wearable Audio Navigation or Swan could also be used in other situations where vision is impaired, for example by firefighters and soldiers. The prototype incorporates satellite technology, using information from two or three GPS trackers, with four cameras placed on the user's body, a digital compass, a light sensor and a head tracker which works out which way the user is facing. This information is put together by a laptop carried in a rucksack which computes the user's location and directs them on their desired route through a virtual representation of the landscape. The user responds to noises produced by so-called "bone microphones" that send signals via vibrations through the skull rather than fitting into the ears. "You bypass the normal hearing mechanism and you create the same perceptual phenomenon through a different way," said Bruce Walker, one of Swan's developers at the Georgia Institute of Technology in the US. Eventually, the scientists hope to produce a system using tiny cameras worn in eye glasses or a lapel pin. The device produces two sorts of sounds. First there is a repeated pinging beacon which guides the user to their desired location. The bone microphones are adjusted so that it sounds to the user like the pinging is coming from a point a metre away from them in the direction they need to go. The alternative, adopted by other systems that are already available to buy, are essentially pedestrian versions of car satellite navigation. The other sounds given off by the device refer to nearby objects such as lampposts, or post boxes. Each has a different signature sound and appears to come from where the object is relative to the user. Jan’s andCharlotte’s Recipes August and September is a great time of the year to go into the country side and pick fruit for free. Blackberries are great for making crumbles, pies and muffins but here is a cake recipe which uses the berries when they are frozen. The berries must be frozen otherwise they will stew out into the cake and make it very soggy. BLACKBERRY and CINNAMON LOAF 125 ml sunflower oil 175g plain flour 1 ½ teaspoons baking powder 1 ½ teaspoons cinnamon 200g frozen blackberries 125g golden caster sugar Zest and juice of 1 lemon 125 ml Greek yogurt 3 medium eggs 1 .Pre-heat the oven 190’C/170’C fan/oven/ gas mark 5. Line and grease a 2lb /900g loaf tin. 2. Sift the flour, baking powder and cinnamon into a large bowl, add the frozen blackberries and toss to coat. Make a well in the centre 3. In another bowl whisk together the sugar, oil, lemon zest and juice, yogurt and eggs. Pour into the well in the flour mixture and stir carefully. 4. Spoon the mixture into the prepared tin level the surface and bake for 55 minutes until a skewer inserted into the centre comes out clean. Cover with foil if the top is browning too much. 5. When cool cut into about 8 slices. I usually freeze this cake in slices which are separated with pieces of greaseproof paper and this enables me to only consume one slice each time. REFRIGERATOR CAKE 150g dried apricots chopped 150g ready-to- eat prunes chopped 3 large balls stem ginger, drained and chopped 1 ½ tablespoons syrup from the jar of ginger 75g golden syrup 125ml brandy 350g plain chocolate broken into pieces 150g unsalted butter. 175g digestive biscuits ,crushed Little oil for greasing 1. Put the apricots, prunes, stem ginger and syrup, golden syrup and brandy into a pan .Bring to the boil and simmer for 2-3 minutes, then remove from the heat and allow the fruit to soak in the syrup for 30 minutes. 2. Lightly oil a tin measuring 18cm x18cmand then line with cling film leaving enough hanging over the rim to wrap up the cake entirely. 3.Meanwhile , put the chocolate and butter into a large bowl resting over a pan of just boiled water, making sure the bowl doesn’t touch the water. When both have melted stir until mixed together.Remove from the heat. 4. Add the biscuits and soaked fruit to the bowl and mix well together. 5. Spoon the mixture into the prepared tin, allowing mixture to settle before levelling the surface. Seal up in the cling film and chill for at least 6 hours or over night To serve peal off the cling film and cut into about 20 slices Charlotte's Simple Salad Bored of lettuce? Think it has no nutritional value whatsoever? Then this salad is for you. You will need: Two to three carrots peeled One small onion peeled Some cherry tomatoes cut in half as many as you like Two sticks of celery washed And some cucumber. Method Take a large bowl and grate the carrot and the onion in to it. These will form the base of the salad, taking the place of lettuce. Next chop up all the other ingredients and add them to the salad bowl. Toss in the dressing of your choice and serve. Note: anything you don't like simply leave out and add something you do. Optional extra's perhaps a few green olives or some crunchy croutons or both. Best made and eaten on the day. AS UK Editor Sean Waiting - Says Hello and rounds up news from our families. Hello families from your editor I have been very busy since the last newsletter because I was away at Sight Village in Birmingham - if you get a chance to go do go. Please see my round up in the technology page. I have just received a catalogue from RNID f you want to order a copy I will put their contact details below. Customer service team Write to us at: RNID Products, 1 Addenbrook business centre Fallodan road, Orton southgate Peterborough Pe2 6yx e-mail solutions@rnid.org.uk telephone: 08707898855 textphone: 01733 238020 fax: 0870789882 website www.rnid.org.uk/shop they have in their catalogue, doorbells, loop systems for the television, telephones and loops for mobile phones, all these things are for hard of hearing people. The young adult patients meeting will take place on Saturday afternoon 21`st October at 4.00 pm, in my bedroom at the Yew Lodge Hotel. Please send Sean articles for the next newsletter by 30th December 2006 AS UK Education chair- Margaret Livingstone writes about her son Gavin Angood. I have been asked to write a short piece by way of introduction to my son Gavin, for those of you who don't already know him. Gavin will be 36 next Friday and is currently living in a caravan in the garden of our cottage in Cornwall. He is fiercely attached to the countryside, coastline and wildlife of our county and loves our daily walks with Charlie the dog. He can't rush, or climb any hills, but he can walk a surprisingly long way with the wind behind him! He is an avid reader and is very interested in the Arts in general. He is a member of the Indian King Poets in Camelford, although he, himself, writes prose, and certainly thinks that the least interesting thing about him is that he has Alstoms Syndrome. Gavin lived alone in Truro for nearly seven years until failing health meant he needed to return home. However with the weight of everyday tasks lifted from him he has improved a great deal and has developed an amazingly positive attitude that means he is willing to tackle new challenges, like computer training and writing a memoir, (his very dry sense of humour making some of the more frustrating things about life sound almost fun!)On his wish list is a visit to Tate Modern, a few glasses of red wine and lunch out as often as possible! Kevin Goodwin writes about himself Hi everyone, I’m Kevin, born 16 June 1973, in Congleton, South Cheshire. I lived in that area until the age of 7, having spent my first couple of years schooling in mainstream primary. I then went off to a school for the visually impaired in Coventry (Exhall Grange). At that time, I had some sight; the school didn’t take any totally blind children until much later. I stayed there for 10 years, until I turned 17. Then I left, at the end of my GCSE year, and went off to Hereford, to attend a residential college for the blind. (The Royal National College for the Blind). I spent 3 years there, gaining a few more qualifications, though no specific job training. When I left college, I moved to London, where I lived in a hostel for the blind for a few months before moving to my current home in Cardiff. I’ve lived here alone now for 13 years and don’t currently work. I was just a baby (not sure what age) when it was discovered that I had problems with my eyes. One of the things noticed was that my eyes would move rapidly, especially when there was an argument going on. So I was diagnosed with Ocular Albinism (wrongly, of course). On a second visit to the hospital, my mother was told that it was my ears causing problems, but my mum disagreed, saying it was definitely my eyes. So the hospital then concentrated for some time on my eyes. I don’t really know when it was discovered I had a hearing loss, though I can remember being quite young and being asked how I’d feel about hearing aids. I said no, I wouldn't wear them. To me it would be something else for people to focus on, something else different about me. Return to my eyes: I was at school in Coventry by the time my sight really began to deteriorate, and it was established that the deterioration was far too swift for Ocular Albinism. So, off to Birmingham Children's Hospital for tests and re-diagnosis. By this time, I was what I’d consider totally blind. All that was left was a level of light perception. The diagnosis given to me was Retinitis Pigmentosa Inverta. I guess the Inverta was because my sight had gone in totally the opposite way to regular RP sufferers. Deterioration from the front was far more severe than from the sides. and I could see at night far better than in the day. This was all until I was about 12 or so. So off I toddled with my new diagnosis, all happy until seeing specialists here in Cardiff. The hearing specialists here started talking about Ushers as being a possibility because of the joint sensory loss. However, when we looked at the different forms of Ushers syndrome, none of them seemed to fit my situation. So they sent me over to the Ophthalmic Department, where I went through more tests. They started suggesting it could be a form of Lebers maurosis. Apparently some types concern dual sensory loss also. I was diagnosed diabetic in September of 2000, and I was immediately put on tablets. This was fine until 3 years later, when I ended up in the hospital, where I was assessed and put on insulin injections. Another 12 months, and I was back in the hospital for a re-evaluation. It was determined that my cholesterol and sugar levels were both extremely high. I’d become immune to my insulin, but a change of medication has done reasonably well since. My desire to find out if I could pass any or all of this on to any possible children was what really got me a proper and final diagnosis for Alstrom Syndrome. I had interviews with the genetics department, who then worked closely with the eye department to try and figure out what was wrong. When I first saw the eye specialists, I apparently had cataracts on both eyes. These were removed to see if I could even get a greater level of light perception. Sadly, this wasn’t to be. However, photos were taken of my retinas and sent, with my permission, to specialists around the world to see if they could come up with any good ideas as to what may be wrong. It was apparently a suggestion made by one of these specialists, possibly in the US, that made the Genetics department send off blood they had stored for me, to get it tested in Leeds for Alstrom’s Syndrome. The results came back around February this year, and finally we know what is wrong and how likely it is to be passed on. It’s taken 33 years for me to get a final diagnosis. I guess the nicest thing on a personal level (except that I now know for definite what it’s all called), was that it brought everything together. It made my being fat not quite so bad because there was finally a reason for it. I hope that the young people being diagnosed with Alstroms today don’t have to go through the constant diets that I was put on at school that never did anything to help me lose weight. I hope the young today with Alstroms can find a more comfortable way of gaining a better life than maybe people of my generation did because of the ignorance. Finally, I hope that, having been asked to join the Board of AS UK that I can help make that future for young Alstrom patients easier, and maybe even bring some understanding to the parents. Mine will never understand now, and that is sad, but I believe I’ve coped reasonably well with everything that’s been thrown at me. This maybe questionable, as I’ve spent the last 10 years or so battling with depression. I don’t think much, if any, of that is down to my life with Alstroms, but who knows, and maybe it’s something I will discover in the future, with help. Thank you all for reading. Kevin Goodwin A multi-sports club for children with visual impairments launches on Saturday 23rd September at Yorkshire Coast College from 10.30am – 3.30pm. For further information please contact: Vicky Cheney at Henshaws Society for Blind People Tel 01423 541558 Email vicky.cheney@hsbp.co.uk Phil Leeson- ASUK’s Treasurer I'm 53 years old, was born and bred in Rotherham but moved to East Yorkshire in 1988 and now live near Deified. I've got 3 children - Kerry (28), Lucy (19) and Charlie (5) and I've been married to my wife Becky for 8 years. I've been a qualified accountant since 1981 and worked in local Government for 34 years. So you can tell that while my private live has been fairly interesting, my work life has been boring in comparison. I'm very much into DIY and rather too late in life discovered that I wanted to be a builder rather than an accountant! I'm Kion Leeson's granddad and very, very proud of him and his mum Kerry. I'm obviously the least knowledgeable about AS on the directors board but I must say that having met my fellow directors for the first time a couple of weeks ago I was really impressed by the effort and total commitment they give to the cause of AS UK and it will be an honour to serve them as treasurer to the best of my ability. From Phil Leeson Directions To The Yew Lodge Hotel FROM THE NORTH Head south on the M1 until you reach Junction 24. Leave the M1 at junction 24 and follow signs to A6 Loughborough & Kegworth on A6. Take the first right turn at the cross-roads on to Packington Hill. Yew Lodge Hotel is 400 metres on the right hand side FROM THE SOUTH Head north on the M1 until you reach Junction 24. Leave the M1 at junction 24 and follow signs to A6 Loughborough & Kegworth on A6. Take the first right turn at the cross-roads on to Packington Hill. Yew Lodge Hotel is 400 metres on the right hand side FROM THE SOUTH WEST Head East on the M42 & then A42 which leads onto the M1, leave at junction 24 and follow signs to A6 Loughborough & Kegworth on A6. Take the first right turn at the cross-roads on to Packington Hill. Yew Lodge Hotel is 400 metres on the right hand side LOUGHBOROUGH, LEICESTER Head west on the A6 following signs through Loughborough to Kegworth. As you leave the village heading to the M1, take the left turn at the cross-roads into Packington Hill. Yew Lodge Hotel is 400 metres on the right. The Hotel is situated within a mile of Junction 24 of the M1 Motorway; at which point the A6, the A42(M) and the A50 converge. This provides easy access to all parts of the country. Located less than three miles from east Midlands Airport and Donnington Race Track, Yew Lodge is also within a short drive of Loughborough, Nottingham, Derby and Leicester. NOTTINGHAM Follow the signs to M1 South on the A453 until you reach the M1 roundabout. Follow signs to A6, LOUGHBOROUGH & KEGWORTH. Take the first right at the cross-roads into Packington Hill. Yew Lodge Hotel is 400 metres on the right. RAIL The nearest railway station is Loughborough which is 6 miles from the hotel If you have not booked your place for the 9th Alstrom Syndrome UK Family Conference -then hurry- Ring Kerry 01709 709430 Alstrom Syndrome UK- 9th Family Conference- Best Western, Yew Lodge Hotel, Packington Hill, Kegworth, Derby DE7 2DC - 21st and 22nd October 2006. AS UK Directors contacts. Margaret Livingstone Tel 01637 830057 e-mail cornwalljoiners@aol.com Jane Entwistle Tel 01962 623476 e-mail jane.entwistle@hants.gov.uk Dr Mike Hales Tel 01803 843227 e-mail mike@mhales.fsnet.co.uk Kerry Leeson Tel 01709 709430 Simon Rogers Tel 0207 4980587 e-mail simon@profantasy.com Sean Waiting Tel 01229 432952 e-mail sean@waiting6415.freeserve.co.uk Mr. Brian Vasey Tel 01723 354599 e-mail: brian.vasey1@virgin.net Mr. Kevin Goodwin Tel 02920026251 e-mail kevinblackbird@mtlworld.com Mrs. Heather maclean Tel 01249 782214 Heather.maclean@hotmail.co.uk Mr. Phil Leeson Tel: 01377 217970 E-mail phil.leeson@eastriding.gov.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 STAFF Mr John Parkinson Email: alstrom@syndromeuk.freeserve.co.uk Chief Executive Mrs Kay Parkinson Company Secretary Tel 01803 524238 ALSTRÖM SYNDROME UK 2006 1 Issue No 24 WINTER 2006 - - ALSTRÖM SYNDROME UK 2003