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RDUK Newsletter, January – March 2011Dear Rare Disease UK member, Firstly, I would like to apologise for the huge gap between this newsletter and the last, what with the launch of our report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy and the organisation of our Rare Disease Day receptions, the start of 2011 has proven to be very busy at RDUK headquarters! We’re just getting back on track now though, and I would like to take this opportunity to thank all of you who have contributed to our recent work and events. ContentsClick on the headings below to skip to: Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy – RDUK Report LaunchedRare Disease Day 2011RDUK Parliamentary Receptions Other Rare Disease Day Events Rare Disease Day Media Policy news from RDUKDevolved Nation Election Campaigns Response to Scottish Written Question RDUK Consultation responses Recent meetings with policy makers and the health service Health and Social Care Bill, Public Bill Committee 1st March Other RDUK Activity and NewsRDUK now on Twitter! New Northern Ireland Rare Disease Advocacy Group Established New Year Honours List Europlan Conference Notes APPG on Medical Research Annual Dinner Other NewsGenetic Alliance UK Project Needs Volunteers Patient Client Council Seeks Views from the Rare Disease Community to Help Shape Policy New UK Orphanet Website EU-Wide Registry of Rare Diabetes Amy and Friends featured on BBC1 Programme The AKU Guide for Rare Disease Patient Groups Job vacancy at Prader-Willi Syndrome Association (UK) Specialised Healthcare Alliance Report Launched HearFirst Courses Upcoming EventsGenetic Alliance UK Annual Conference ‘The New NHS – will it deliver excellence for families with genetic conditions in the UK?’, 24th May 2011 New Members
Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy – RDUK Report LaunchedRare Disease Day, 28th February 2011, saw the launch of our report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy, which outlines our recommendations for a strategy for rare diseases. As you are no doubt aware, the production of this report has been one of our top priorities over the past year and a half, so we were very pleased to see it finally completed! We believe this to be the most comprehensive and wide ranging review of services for patients with rare diseases ever undertaken in the UK, and we would like to thank the many of you who contributed to it either by participation in our Working Groups, responding to our consultation or attending any of our meetings and conferences in which the report was discussed. The UK government are committed to the development of a rare disease strategy by 2013 and our report outlines 27 broad recommendations and over 85 specific recommendations covering five areas which an effective strategy needs to address:
Many of the recommendations outlined in the report can be implemented easily and without too much financial input. Others may be more difficult or will take longer; however, this should not be an excuse to avoid addressing these issues. A strategy for rare diseases should outline a clear course of action accompanied by timescales for implementation. There may of course be other solutions, or there may be other bodies, than those we recommend that can best carry out the actions we propose. We are open to, and welcome, further ideas and discussion. All four health departments across the UK have signalled their willingness to take on board RDUK’s recommendations in developing a strategy for rare diseases and to work in collaboration with us. The Department of Health in England have indicated that a public consultation on a strategy will come out in the late summer/autumn of this year and we hope to influence the development of this consultation. We will keep you informed and will help you to respond to the consultation once it is released. Following consultation and production of the strategy, RDUK will then be scrutinising the implementation of a strategy. The report is available on the RDUK website (www.raredisease.org.uk) here. For a hard copy of the report, or for more information, please get in touch. Rare Disease Day 2011RDUK Parliamentary Receptions
February 28th marked the 4th International Rare Disease Day, an annual event which aims to raise awareness of rare diseases, bring together all those with an interest in the field and highlight rare diseases as a health priority to the country’s government and health departments. This year’s theme was ‘Rare but Equal’ and emphasised the right for rare disease patients to have equitable access to diagnosis, services, information and support as those affected by more common conditions. RDUK and Genetic Alliance UK were pleased to mark this year’s event with parliamentary receptions in each of the four home nations. This year also had a special focus for RDUK as it marked the launch of our report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy. We began with our reception at the Scottish Parliament on 22nd February. Here our host Jackie Baillie MSP recognised that rare diseases collectively aren’t rare and welcomed the publication of RDUK’s Improving Lives, Optimising Resources report. Karen Ferguson then informed us of the challenges faced by her son as he grew up with neurofibromatosis and the lack of support that was available to him and to other patients. She hoped that a rare disease strategy would improve the availability of education and employment support. Dr Lindsay Mitchell told us about her involvement in a specialist clinic for paroxysmal nocturnal haemogloblinuria (PNH) patients and discussed the need for rare disease patients to be able to access effective treatments for their condition when one exists. Alastair Kent, Chair of RDUK, then informed us of the huge number of people affected by rare diseases in Scotland and of some of the issues they currently face and presented Will Scott from the Scottish Government’s Long Terms Conditions Unit with RDUK’s report. Will said that he viewed RDUK as a partner in achieving the aims of a strategy and gave numerous examples of good practice in Scotland which can act as a basis to further develop services for rare diseases. Following Scotland, we headed to Westminster on Rare Disease Day itself where a successful event, hosted by Julian Huppert MP, was attended by over 150 guests. Here we heard from Liz Kendall MP on behalf of Labour party leader, Ed Miliband MP, who gave his support to the work of RDUK and confirmed the role politicians must play in ensuring rare disease patients have equal access to medicines, treatments and social services. We were given an inspiring account from Jayne Hughes who fought for 10 years to get a diagnosis of Cockayne syndrome for her daughter Amy and who has since set up Amy and Friends, a support group for families affected by the condition. Professor Sir John Burn highlighted the issues affecting research into rare diseases and the need for a reduction in the associated unnecessary bureaucracy. Alastair Kent then emphasised the scale of rare diseases and the need for an effective strategy to tackle some of the problems patients currently face. He presented RDUK’s report to Earl Howe, the Parliamentary Under Secretary of State for Quality at the Department of Health. Earl Howe confirmed that the Department of Health would be using RDUK’s report to inform the development of a strategy and concluded the event by saying that he is committed to ensuring that all patients, including those with rare diseases, are able to access high quality NHS services.
The next stop on our tour of the UK was Northern Ireland where we were treated to a sunny spring day at Stormont. Following an introduction from Jim Wells MLA, Chair of the Health, Social Services and Public Safety Committee, we heard from David O’Prey who shared his experience of caring for someone with Loeys-Dietz syndrome, a rare disease. He expressed his frustration at the difficulty of accessing services and information and stressed the need for a rare disease strategy and for people with rare diseases to work together to make themselves heard. Next, Alison Wilson told us about her role as All Ireland Advocacy Support Worker for the Mucopolysaccharide (MPS) Society and the Primary Immunodeficiencies Association (PIA) in which she provides support to patients with their non-medical needs. This is an example of excellent practice in Northern Ireland, with benefits to both patients and professionals, and she believes that the health service should support other patient organisations in the development of similar services. Alastair Kent presented RDUK’s Improving Lives, Optimising Resources report to Dr Miriam McCarthy who was representing the Department of Health, Social Services and Public Safety. Dr McCarthy told us how ‘changes were afoot’ for rare disease patients and that she looked forward to a continuing a relationship with the other UK health departments to develop a strategy by 2013. Our final event took place on 16th March at the Welsh Assembly. This event was hosted by Darren Millar AM who began by making a plea to other AMs in attendance to do their part to ensure rare disease patients don’t fall off the radar and are able to access high quality services. We then heard from Professor Anne Rosser who emphasised the importance of collaboration, both nationally and internationally between researchers, doctors, patients and carers to enable us to understand more about rare diseases, and gave the example of the Huntington’s disease network which is coordinated in Cardiff. Sarah Graves then told us about her experience of living with Behcet’s disease, and the importance of having well coordinated care to ensure she can live her life as normally as possible. Finally Alastair presented RDUK’s report and explained the benefits that would come from having a national strategy in place. At each of the events, attendees who participated in RDUK’s contact campaign took the opportunity to meet with their local politician. RDUK would like to thank everyone that hosted, spoke at or attended these events and made them such a success - we hope you found the days useful and interesting. Further details and photos of all events are available on the RDUK website here. Other Rare Disease Day EventsIt wasn’t just RDUK who recognised Rare Disease Day this year, events were held all over the UK by various organisations and patient support groups. Thanks to all who helped to raise awareness of this important day! Some events that were held included: The Royal Holloway University School of Biological Sciences held an event which included poster displays, an exhibition, lab visits, debates and numerous presentations on topics related to rare diseases and rare disease research. The Myasthenia Gravis Association had several information stands and coffee mornings to raise awareness of MG and Rare Disease Day. The Myotonic Dystrophy Support Group recognised Rare Disease Day over a meeting between patients and researchers. The Cavan Tommy Hoey Trust held a day for patients, parents and carers. Glaxo-Smith-Kline held a day for their staff to raise awareness of rare diseases and provide perspectives on treatment and access challenges and opportunities. Genzyme Therapeutics had Rare Disease Day displays and cake sales to raise money for the Association of Glycogen Storage Disorders. Breathtakers and Chesterfield College teamed up to raise awareness of obliterative bronchiolitis and other rare lung diseases. Rare Disease Day MediaRare Disease Day succeeded in generating a wide range of media coverage. National NewsThe Independent, 28th February - included a 16-page colour supplement on rare diseases with a foreword written by RDUK. The full supplement can be found here. Daily Telegraph, 28th February – featured a story on a boy with Alstrom syndrome and the opening of the UK’s first rare disease centre in Birmingham. Click here to read the full story. Daily Mail, 28th February – 1 in 4 cancer cases missed: GPs send away alarming numbers of patients, delaying vital treatment. This article mainly focused on diagnosis of cancer but did include a box on rare diseases with a mention of RDUK and the Improving Lives, Optimising Resources report. Research Fortnight, 2nd March – ‘Rare diseases need joined up action, say campaigners’. Article on RDUK report with quotes from Alastair Kent. National RadioBBC Radio 5 Live, 1st March – Melissa Hillier, Deputy Chair of RDUK, spoke with Jayne Hughes from Amy and Friends on Gabby Logan’s health show. See the picture below of Melissa live in the studio!
Local NewsBromley News Shopper, 28th February – Case study of Kate Elliot who has Niemann Pick disease to highlight Rare Disease Day. View the full article here. Haverhill Weekly News, 28th February – feature on cake sale held by Genzyme staff to raise awareness of Rare Disease Day. Click here to view the article. London Evening Standard, 2nd March – column about rare diseases and Rare Disease Day in Dr Christian Jessen’s page. This article stated that it is impossible for GPs to recognise every rare disease so RDUK responded with examples from our report as to how to improve diagnosis of rare conditions. The article can be seen here. The Munster Express, 4th March – feature on Genzyme Ireland’s activities for Rare Disease Day. Derby Telegraph, 5th March – case study on Ruth Page who has Behcet’s syndrome. This included information on RDUK and quotes from Alastair Kent. Click here to read the article. Newcastle Chronicle, 7th March – case study on Merry James who has ataxia telangiectasia. The article can be seen here. Herald Express, 8th March – story on Kay Parkinson and how she set up Alstrom Syndrome UK. Crewe Chronicle, 16th March – article about Crewe-based organisation Climb’s contribution to the RDUK report and featured information on the report and Westminster reception. The article can be seen here. South Wales Guardian, 31st March – article on Marie James whose son has tuberous sclerosis complex, mention of RDUK’s Welsh Rare Disease Day reception. Click here to view the story. Local RadioBBC Radio West Midlands - Melissa spoke again about rare diseases alongside Bethany Stokes who has mastocytosis. Radio Newcastle Radio Ulster Policy news from RDUKDevolved nation election campaignsElections for the Scottish Parliament, Welsh Assembly and the Northern Ireland Assembly are being held on the 5th May 2011. RDUK are contacting candidates ahead of the elections to raise awareness of rare diseases and to ask for pledges of support for a strategy for rare diseases. We are also encouraging members in Scotland, Wales and Northern Ireland to contact their candidates as the best way to influence candidates is by their potential constituents getting in touch. If you would like to participate, or if you would like to forward details to your members/contacts about how they can participate you can find a template letter, a pledge form and candidate contact details by following the links below: Northern Ireland will be coming soon! Please do inform us if you get a response from your candidates. Response to Scottish Written QuestionScottish Health Secretary, Nicola Sturgeon, gave a mention of RDUK in a positive response to a written question recently. Helen Eadie (Dunfermline East, Lab) to ask the Scottish Executive what treatment and support services are available to people with (a) progressive supranuclear palsy, (b) corticobasal degeneration; and (c) multiple system atrophy, broken down by NHS board. Nicola Sturgeon: 'Services for rare diseases such as progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and multiple system atrophy (MSA) are provided by the clinical neuroscience units in Edinburgh, Glasgow, Dundee and Aberdeen. These services, which cover the whole of Scotland, are consultant-led, with nurse practitioner support and access to appropriate support such as physiotherapy. In addition, there are long-standing commissioning arrangements to ensure people with MSA, CBD and PSP are able to benefit from highly specialised services across the UK, or further afield, when clinically indicated. Voluntary organisations such as the Multiple System Atrophy Trust and the PSP Association also provide valuable support to people living with these conditions. The Neurological Alliance of Scotland, which receives some of its funding from the Scottish Government, acts as an umbrella organisation for all third sector bodies dealing with neurological conditions. We have also given a commitment to work with Rare Disease UK on taking forward in Scotland the strategy Improving lives, Optimising Resources: A Vision for the UK Rare Disease Strategy, which it launched at the Parliament on 22 February 2011. In addition, the Scottish Government strongly supports the implementation of NHS Quality Improvement Scotland’s clinical standards for neurological health services. These will drive local improvement of services for all those with a neurological condition, wherever in Scotland they live.' RDUK Consultation ResponsesLiberating the NHS: An Information Revolution – this consultation was one of the suite of consultation papers on the back of Equity and Excellence: Liberating the NHS – the Government’s White Paper for the restructure of the NHS in England. The consultation outlines the Government’s ambitions for an “information revolution” to deliver benefits to both patients and the NHS. Our response outlines how a strategy for rare diseases in needed to ensure that the ambitions laid out in the consultation document apply to rare diseases and how the recommendations developed by our Working Group on Patient Care, Information and Support can help to generate the capture and exchange of information on rare diseases. The original consultation document can be read here. Our response to the consultation can be read here. A New Value Based Approach to the Pricing of Branded Medicines – this consultation set out the Government’s plans to move towards system of pricing for medicines based on their “value”. Whilst we welcomed the aims behind the move, we also expressed reservations on the lack of detail about how value might be measured as well as pointing out that a separate model might be needed for orphan medicines, especially is the QALY (quality adjusted life year) is still to be used. The original consultation document is available here. Our response to the consultation can be read here. Recent Meetings with Policy Makers and the Health ServiceWe met with Will Scott, Head of the Scottish Government Long Term Conditions Unit and colleague Dawn Kofie, to discuss the recommendations outlined in Improving Lives, Optimising Resources and how the Scottish Government might take these forward. We also had a meeting with Teresa Moss, Director of the National Specialised Commissioning Team (NSCT) and Josie Godfrey, Head of Policy and Coordination, both to discuss how we can work with the NSCT to implement the recommendations outlined in Improving Lives, Optimising Resources and how NSCT’s priorities for the year align with the document. More widely, we also discussed changes to the NHS in England and what the Health and Social Care Bill might mean in practice. In Belfast we met with Teresa Magirr, Assistant Director of Regional Commissioning at the Health and Social Care Board and Dr Jackie McCall from the Public Health Agency to discuss a strategy for rare diseases. There was recognition of the need for Northern Ireland to collaborate with other home nations to give patients in Northern Ireland access to specialised services, but we also discussed what can be done in Northern Ireland to improve diagnosis times and access to coordinated care and support. Health and Social Care Bill, Public Bill Committee 1st MarchLiz Kendall MP mentioned RDUK and Genetic Alliance UK at a recent meeting of the Public Bill Committee. Discussing what will be commissioned by the NHS Commissioning Board under the Government’s plans for NHS restructure, she said she ‘attended the Rare Disease UK and Genetic Alliance UK event held to highlight rare disease. The people who attended that event would like reassurance that all those specialised services will be commissioned nationally.’ Simon Burns, Minister of State for Health, replied that ‘The intention is that [commissioning by the NHS Commissioning Board] would include, for example, specialised services for patients with rare conditions, where regional or national commissioning arrangements currently apply’ but added that ‘it is important that the Bill allows flexibility when determining which services are best commissioned by the NHS Commissioning Board or by the consortia’. He said that the current Specialised Services National Definitions Set would form the basis of which services are to be commissioned nationally. Ms Kendall MP later went on to say how important it is that the Government consider ‘whether it is more appropriate for a service to be commissioned nationally or locally as the primary issue before they go on to consider which body should commission it’ and not fit services around commissioning structures rather than health needs. She also stated the importance of the Secretary of State discussing with local consortia and local health and wellbeing boards when deciding whether a service should be commissioned locally or nationally. She pressed for a vote to make an amendment to the Bill to take this local engagement into consideration, but was outnumbered in the vote. Other RDUK Activity and NewsRDUK now on Twitter!RDUK have joined the social media world of Twitter! We will be using it to keep everyone updated of our activities, telling you of politicians who have pledged their support to us and keeping you informed of relevant policy documents and media stories. If you’re on Twitter, follow us @rarediseaseuk New Northern Ireland Rare Disease Advocacy Group EstablishedRDUK recently participated in a meeting to discuss the possibility of establishing a new rare disease advocacy group in Northern Ireland. The meeting was attended by representatives from seven different patient organisations as well as representatives from the genetics department at Belfast City Hospital, the Department of Health, Social Services and Public Safety (DHSSPS) and the Patient Client Council who had been involved in brining the meeting about (more information about the PCC below). At the meeting many common issues were raised and there was strong support for collaborative working to communicate the voice of the rare disease community in Northern Ireland. The main areas identified by the group as priorities included:
The next meeting will take place in April to discuss in more detail the formalities of forming a group. If you would like to attend the next meeting, please contact Jennifer McNeill at the Patient Client Council: PCCBelfastAdmin@hscni.net New Year Honours ListRDUK were delighted to find out that our Chair, Alastair Kent, was recognised in the New Year Honours List! Alastair was awarded an OBE for services to healthcare, and went to Buckingham Palace on 31st March to meet Princess Anne and receive his badge. Anne Begg MP, a great supporter of RDUK, was also recognised by being made a Dame for services to disabled people and equal opportunities. We would like to offer our congratulations to Alastair and Dame Anne Begg MP – we believe this recognition to be very well-deserved! Europlan Conference NotesThe notes from our Europlan Conference held in November 2010 are now available here. This conference was attended by over 80 people and provided an opportunity for further discussion around what should be included in a strategy for rare diseases. We collected a lot of evidence and examples of good and bad practice at this event which was used to inform our Improving Lives, Optimising Resources report. The results from the conferences held across 15 European states were presented at the final Europlan conference in Rome in February. For more information about the project, please visit the website – http://www.europlanproject.eu/ Many thanks to all those that attended and made the day a success. APPG on Medical Research Annual DinnerOur Improving Lives, Optimising Resources report was discussed at the annual dinner of the All Party Parliamentary Group on Medical Research. This dinner was attended by MPs and high profile representatives from medical research charities, the Academy of Medical Sciences, the Department of Health, Medical Research Council and The Wellcome Trust so was an excellent opportunity to raise awareness of our report and the issues highlighted in it. For more information on the APPG on Medical Research contact the Association of Medical Research Charities who provide the secretariat on 020 7685 2620. Other NewsGenetic Alliance UK Project Needs VolunteersRDUK’s parent organisation, Genetic Alliance UK are looking for people to take part in a new and exciting research project that will put you at the centre of the very interesting debate ‘New medicines: how should we weigh the risks and benefits? And who should do so?’. Not only will you get your voice heard in an innovative and high profile way, but you will be paid for your time too! Look out for information coming your way soon about the ‘Risks and Benefits’ project, or if you can’t wait until then please contact Project Officer, . Patient Client Council Seeks Views from the Rare Disease Community to Help Shape PolicyThe Patient Client Council (PCC) was established as part of the reform of Health and Social Care in Northern Ireland. Its aim is to provide a powerful, independent voice for patients in Northern Ireland. In recognition of the fact that the voice of rare disease patients in often marginalised, the PCC has identified rare diseases as one of its areas of priority. In order for patients in Northern Ireland to have their say, the PCC are urging people to sign up to their free membership scheme. As a member you can be involved in activities as much or as little as you like. For more information or to sign up online, please visit: http://www.patientclientcouncil.hscni.net/get-involved/membership-scheme If you are signing up, please mark “rare disease” on the form in order for appropriate information to be sent to you. New UK Orphanet WebsiteOrphanet have launched a new UK-specific website which highlights news, event and documents of national significance. This website can be accessed here - http://www.orpha.net/national/GB-EN/index/homepage/. We would encourage you to register any relevant activity with Orphanet to ensure it is as comprehensive as possible. EU-Wide Registry of Rare DiabetesAlstrom Syndrome UK has joined as a partner in EURO-WABB, a new project to develop an EU-wide registry for rare diabetes syndromes including Wolfram, Alstrom and Bardet-Biedl syndromes. This registry aims to collate data to improve diagnostics, care, knowledge and treatments for these conditions. Any health professionals caring for patients with any of these conditions, as well as any affected patients or family members, are encouraged to contact Professor Timothy Barrett, the project leader, directly by email () or via the project website (http://www.euro-wabb.org/). Amy and Friends featured on BBC1 ProgrammeAmy and Friends, the support group for Cockayne Syndrome, was featured on the BBC1 programme ‘Saints and Scroungers’. This is a series looking at benefit thieves and those that actually deserve government help. Obviously Amy and Friends was featured at the latter of those two! The programme gave a moving account of the founder Jayne Hughes’ own experience of Cockayne syndrome with her daughter Amy and how this inspired her to help others living with the condition. If you missed it, you can catch up on youtube. Part one is available here and part two is here. The AKU Guide for Rare Disease Patient GroupsNick Sireau, Chairman of the AKU Society, has set up a website offering tips, advice and suggestions to all rare disease patient groups. The information on this site is based on what Nick himself has learnt through his work with the AKU Society and he hopes that by sharing it it will help others involved in patient organisations to raise funds, build their networks, and learn from his own mistakes and successes. Topics that Nick’s posted on include tips on building a patient-centred rare disease clinical programme, using social media for rare diseases, and how to move towards a clinical trial for a rare disease, and the site is already a great resource for information. If you are involved in a patient organisation, check it out and see how Nick can help you! You can access it at http://akurarediseaseguide.wordpress.com/. For further information contact Nick on . Job vacancy at Prader-Willi Syndrome Association (UK)The Prader-Will Syndrome Association (UK) is looking for an Outreach Development Worker (London and the South East). The role will involve supporting families and people with PWS, as well as liaising and informing professionals. The ideal candidate will be educated to degree level or equivalent. They will be a proven self-starter with experience within the health and/or social care sector and will have a good knowledge of both physical and learning disability issues. Experience of working or living with people with PWS would be an advantage. They must have good communication skills at all levels and feel confident to deliver training and presentations. For more details, see the PWSA website here. Specialised Healthcare Alliance Report LaunchedThe Specialised Healthcare Alliance (SHCA) recently launched a report Leaving No-one Behind which takes stock of recent developments in specialised commissioning before going on to identify a series of key drivers in delivering improved care and value for people with rare and complex conditions. If you would like to read the full report you can do so here. HearFirst CoursesHearFirst is an independent training provider who can develop training sessions for professionals to help you raise awareness of your organisation’s rare disease. They have already arranged ‘Understanding Alstrom Syndrome’ days, of which Kay Parkinson, Executive of Alstrom Syndrome UK, says ‘HearFirst worked closely with us to develop both a half day and a one day training course which is currently being rolled out to people who work, in some way, with adults or children with Alstrom syndrome. The training has enabled a wide variety of practitioners to better understand this complex syndrome. We believe the training has been invaluable in bringing about positive changes in terms of care, education and support for many people with Alstrom syndrome.’ If you are interested in learning more about how HearFirst can develop a course for your organisation, or if you would like to attend an ‘Understanding Alstrom Syndrome’ training day contact Julie Ryder on 01706 872816 or email . Upcoming EventsGenetic Alliance UK Annual Conference ‘The New NHS – will it deliver excellence for families with genetic conditions in the UK?’, 24th May 2011Genetic Alliance UK is holding its Annual Conference on 24th May 2011 and the title of this year’s conference is “The New NHS - Will it deliver equity and excellence for families with genetic conditions in the UK?” There will be a range of speakers to inform us about the extensive range of changes in the NHS being brought about by the coalition government and the effect that they’re going to have on the service provided by the NHS and on patients and their families. There will be a wide range of topics discussed encompassing a range of views of the changes to the NHS. To ensure that you also have a chance to participate and discuss your views, and those of your organisation, we have organised a panel discussion in the afternoon for the entire audience to participate in. A preliminary agenda is available on our website here. As always the conference will be attended by a range of our members, health professionals and industry experts and so it offers a great chance for you to network and to meet the Rare Disease UK and Genetic Alliance UK teams. If you would like further information please visit the website at www.geneticalliance.org.uk/latest-events.htm or contact Julian Walker at or on 020 7704 3141. The booking form is available here. New MembersMesothelioma Symptoms is an extensive database of information and resources for patients and their families to better understand the symptoms of mesothelioma and the various aspects of diagnosis, prognosis, treatment, and many other factors of survival. Goldenhar Family Support Group UK has been set up to support families throughout the U.K. who face the day to day challenges of supporting relatives with Goldenhar Syndrome and related problems. Periodic Fever Syndromes - UK Support is for anyone who is affected by a periodic fever syndrome, looking to find a diagnosis, undergoing treatment or in need of information. Myositis Support Group is a UK charity providing advice and support to individuals and their families affected by dermatomyositis, polymyositis, inclusion body myositis and juvenile dermatomyositis. AMMF - The Cholangiocarcinoma Charity is the UK’s only cholangiocarcinoma charity who aims to raise awareness of the condition, support specialised research teams in their work to find the causes, methods of earlier diagnosis and treatments for the disease, and to provide information on cholangiocarcinoma. The Children's Mitochondrial Disease Network is the UK’s only dedicated mitochondrial disease support group. Rett UK is a charity working to make a difference for people living with Rett syndrome. They aim to enhance the quality of life for all people with Rett syndrome, their families and carers. The Trigeminal Neuralgia Association UK aims to provide support, information, hope and encouragement to all patients of trigeminal neuralgia, and to raise awareness of the condition amongst healthcare professionals and the public. Vasculitis Ireland Awareness is a support group for sufferers of any of the vasculitis diseases and their carers in Ireland. The Oxalosis and Hyperoxaluria Foundation is the only organisation in the world dedicated to improving the care and treatment and finding a cure for oxalosis, primary hyperoxaluria and related stone diseases. The Encephalitis Society supports adults and children affected by encephalitis and their families and carers by providing advice and information, and working at a national level to improve services for encephalitis patients. The 22q11 Ireland Support Group provides help and support for individuals and families affected by 22q11.2 deletion/DiGeorge Syndrome/VCFS. Through education, research, outreach and advocacy they seek to raise awareness of this little known condition. The Thalidomide Society was formed in the UK in 1962 by parents of thalidomide impaired children in order to help and support the affected families and to campaign for public support and recognition of what had happened. The Society currently supports thalidomide and similarly impaired people by providing advice and information. The Pituitary Foundation is working to provide information and support to those living with pituitary disorders, including patients, their relatives, friends and carers. They work to increase public awareness and act as a 'Patient Voice' in order to improve services and policies to meet the needs of the pituitary population. Aniridia Network UK is a support group which helps people with aniridia as well as their families, doctors and teachers to be hopeful, confident, supported and well informed about aniridia and related issues. HAE UK is an association for patients with hereditary angioedema. Their website is currently under construction so anyone wanting further information should contact Ann Price on .
If you have any news or upcoming events that you would like RDUK to raise awareness of please do let me know. Best wishes Lauren |
Rare Disease UK is supported by an unrestricted educational grant from the ABPI
Orphan Disease Industry Group and the Orphan Disease Industry Group Partnership