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RDUK Newsletter, June-July 2011Dear Rare Disease UK member, Welcome to our e-Newsletter for June and July. Keep reading to see the latest from us and the wider rare disease community. Please remember you can email me at any time if you would like to put something in our next e-Newsletter. ContentsClick on the headings below to skip to: RDUK News and ActivitiesDevelopment of our Strategy Report - Meeting 2 Northern Ireland Rare Disease Partnership Meetings and Events Contacting Politicians in the Devolved Nations Website Updates The Born Healthy Community RDUK Consultation Responses Government Responds to Value-Based Pricing Consultation Member's NewsWorld Hypoparathyroidism Awareness Day Childhood Eye Cancer Trust Survey Results PSPHealthUnlocked Shire Brave Awards Other NewsEUCERD ‘2011 Report on the State of the Art of Rare Disease Activities in Europe’ Now Available International Rare Disease Research Consortium (IRDiRC) Update EUROPLAN Final Report Chain of Trust Project Upcoming EventsRDUK AGM Alstrom Syndrome UK Conference British Paediatric Surveillance Unit Symposium New MembersChamps Appeal Olivia's Vision The Society for Mucopolysaccharide Diseases (MPS Society) IIH UK The Kallmann Syndrome Organisation I Have IIH Cancer52 FacialNervePalsy.com The Mesothelioma Center Fight for Sight
RDUK News and ActivitiesDevelopment of our Strategy Report – Meeting 2You might recall that in our last e-Newsletter we reported that we had had a meeting between all RDUK staff and members of the Management Committee to further discuss and build on each of the recommendations in our ‘Improving Lives’ report. As you can imagine, there was a lot to cover and it ended up needing another session to get through all 85+ recommendations! We had this second meeting at the start of July and have now developed our plan of action on how to move forward with the recommendations. Discussions centred around prioritising our work, who we need to meet with to take each recommendation forward, how difficult we think it would be to get the recommendations implemented, how we will know when the recommendations are achieved, and who we might be able to work in collaboration with to get them implemented. These meetings were very useful to help us plan for the year ahead, and we will now begin the process of meeting with the people and organisations we identified as being important to help get the recommendations acted on. We will of course keep you updated on the outcomes of these meetings, and if you have any ideas of other people you think it would be good to involve then please do get in touch. Northern Ireland Rare Disease PartnershipThe Northern Ireland Rare Disease Partnership has continued to progress. At the last meeting in Belfast in June, we planned our upcoming activities and future strategy. With the help of the Patient and Client Council, we are planning on undertaking a survey around people’s diagnosis and community based care. We will send more details about this in the autumn. Other activities aside from campaigning for a strategy for rare diseases, include mapping the referral routes to the medical genetics service, and also education of professionals beginning with a joint training event with the Royal College of Nursing in October. For more information about the Partnership, please see our website. Meetings and EventsThis month RDUK met with Dr Ed Jessop from the National Specialised Commissioning Team in England. He was able to update us on the Department of Health’s progress and timeline on the development of a UK strategy. He informed us that the public consultation will be launched in September or October of this year and will go out for the mandatory 12 week period. They then hope to launch their final strategy on Rare Disease Day 2012 (29th February). Although it is recognised that this is an ambitious timeframe, it was highly encouraging to hear confirmation of this activity. We also discussed ideas around how some of RDUK’s recommendations for a strategy would work in practice. We have also met with representatives from the Welsh Government and the Department of Health, Social Services and Public Safety in Northern Ireland to discuss their progress on the development of a rare disease strategy. It was encouraging to hear how all four home nations have been working collaboratively to develop a strategy. We remain concerned about how a UK strategy will be embedded in the different health systems in each country and we will continue to push for clear timescales and outcome measures for the implementation of a strategy. RDUK held a multi-stakeholder focus group with senior representatives of the Scottish Medicines Consortium (SMC) this month, including Chair, Angela Timoney, to discuss their system of appraisal for orphan drugs, to gain clarity about the assessment process for access to these drugs and to establish how we can build a constructive relationship with them going forward. We hope to be able to share the notes from this meeting with you shortly. In the last couple of months our Executive Officer, Stephen Nutt, has been busy promoting the work of RDUK at various events including the ALD Life Patient Day, the Action Duchenne lobby day at Westminster and in a meeting with Cancer 52. These are all great opportunities to meet our members and let them and their members know how they can get involved in our work. Contacting Politicians in the Devolved NationsYou may recall that ahead of the elections to the devolved nations in May 2011, we conducted a contact campaign with our members’ help to get candidates to pledge their support for a strategy for rare diseases. We have recently been following up supportive candidates, as well as other key politicians in the devolved administrations such as members of the health committees. We are lining up a number of meetings after the recess to ensure that we raise political awareness ahead of the public consultation on a strategy for rare diseases in the autumn. Website UpdatesWe have added a lot more information to our website recently, including videos of rare disease patients and family members talking about their experiences. These videos offer a huge insight into what it is like to live with a rare disease on a day-to-day basis and the importance of good support, care and information. Please do visit our website and let us know what you think – www.raredisease.org.uk. Thanks to Shire Pharmaceuticals and Waggener Edstrom for their help with making these videos. The Born Healthy CommunityRDUK have recently joined the ‘Born Healthy Community’ to show our support for Born Healthy’s call for countries to act to tackle birth defects and congenital disorders. Every year about 8 million babies are born with birth defects and at least 3 million die as a result of this. However up to 70% of these defects are preventable or treatable, often with very simple interventions. Born Healthy was established by the PHG Foundation (who is a member of RDUK) in response to the recognition of the urgent need for governments in low and middle-income countries to focus resources on birth defects. There are two main elements to the Born Healthy project:
RDUK are pleased to be able to support this work and would encourage others to do so. Anyone with an interest in this project can get further information here. RDUK Consultation ResponsesGeneral Medical Council: Good practice in prescribing and managing medicine and devices The GMC issued this consultation looking at various issues surrounding prescribing medicines. In our response RDUK focussed on the issues of the prescription of off-label and unlicensed medication. We said that guidance must be focussed on patient safety and that although we recognise the need to prescribe off-label or unlicensed medicines (particularly in the case of rare diseases for which there are few licensed drugs), these shouldn’t be prescribed over licensed medication, where one exists, on the grounds of cost. We were concerned that the consultation document sent inappropriate messages regarding the prioritisation of patients’ interests against cost-savings. We were concerned about the statement that patients do not need to be informed that medication they are being given was unlicensed, and felt this went against the NHS policy of ‘no decision about me without me’ and that patients should be given full information in order to make informed decisions. We also highlighted the need for a framework to aid the evaluation of the effectiveness of off-label medicines to encourage more consistent prescription of these. The full consultation can be seen here and our full response can be seen here. Department of Health, Social Services and Public Safety: Living with Long-Term Conditions – A Policy Framework This consultation sets out a framework to guide the delivery of health and social services for adults living with long-term conditions in Northern Ireland and their carers. Whilst we recognised that many of the aims set out in the framework are laudable, we highlight our concerns that these may never be achieved for patients with rare diseases and their carers without a strategy looking specifically at rare diseases. The consultation document is available here and Rare Disease UK’s joint response with the Northern Ireland Rare Disease Partnership is available here. Government responds to value-based pricing (VBP) consultationYou may recall that previously RDUK responded to the Government’s consultation on moving towards a value-based approach to the pricing of medicines. You can view RDUK’s response here. The Government published their response to the consultation on the 18th July (available here). Overall, the Government notes that there was general support for moving to a system of VBP and recognition that there should be a willingness to pay more for therapies in areas of highest unmet need. However, respondents also commented on the lack of detail in the proposals. The Government’s response does little to clarify how VBP will work in practice, although orphan medicines are referred to frequently in the response. Some of the points to note are:
Member’s NewsWorld Hypoparathyroidism Awareness DayWorld Hypoparathyroidism Awareness Day was recognised on June 1st this year with Hypoparathyroidism (HPTH) UK and equivalent groups in America, Norway, Germany, Bahrain and Australia taking the opportunity to raise awareness of this condition. The Awareness Day focussed on post-surgical hypoparathyroidism and HPTH UK launched their ongoing project called ‘Living with Hypoparathyroidism’ in which they are collecting patients’ stories to describe what it really feels like to live with this rare condition. These stories will be added to their website as they come in, to read them or to tell your own experience of living with hypoparathyroidism, please visit http://www.hpth.org.uk/. Childhood Eye Cancer Trust (CHECT) Survey ResultsCHECT recently launched the results of a survey they carried out in association with Mumsnet to mark National Eye Health Week. The survey was aimed at parents with children under 6 years old and was to find out how much they knew about childhood eye cancer or retinoblastoma. Retinoblastoma is a rare form of cancer that affects the retina of children and it is frequently diagnosed late meaning that the child will often have to have an eye removed. If spotted earlier, less severe measures can be taken to treat children. The results of the survey, however, showed that although 61% of parents had heard of retinoblastoma, 89% of these (55% overall) did not know much about it and only a few were aware of the signs and symptoms. 37% were not at all aware of this rare condition. CHECT are now urging parents to become more aware of their child’s eye health and to educate themselves on the signs and symptoms of serious eye diseases. They have also launched a campaign and petition to get the NHS to publish more information on the signs of retinoblastoma in the ‘Birth to Five’ book, Personal Child Health Record and on the NHS Direct website. If you would like to sign this petition, you can do so here. PSPHealthUnlockedThe PSP (progressive supranuclear palsy) Association has launched a new resource called PSPHealthUnlocked. This is an easy, personal way to gather and share information with others living with, working in or affected by PSP. This site will enable members to:
You can join this new, online community for free here http://psp.healthunlocked.com. Shire Brave AwardsShire Pharmaceuticals has launched its international Brave Awards to recognise the courage and dedication of non-professional people who provide regular, consistent care for another person. “The BRAVE Awards honour some of the bravest people in the world – those who give their time, support and compassion to care for a relative, neighbour or friend,” said Angus Russell, Shire Chief Executive Officer. “At Shire, we believe that carers are often the unsung heroes and we hope the BRAVE Awards will draw attention to the important and sometimes undervalued role that mums, dads, brothers, sisters, aunts, uncles, friends, neighbours or frankly anyone in the community can play in the life of others around the world.” Nominations for the awards are being accepted until 31st August 2011 and winners will be announced in November. Making a nomination is easy - just think of someone who you believe deserves the award and tell Shire why through the website here www.shirebraveawards.com. The finalists will be chosen by a Selection Committee and up to ten winners will then be chosen by Shire’s 4,700 members of staff across the world and will each win $10,000 USD. There are no restrictions on the type of care being provided and care recipient need not be prescribed a Shire medication or treatment so get nominating! Other NewsEUCERD ‘2011 Report on the State of the Art of Rare Disease Activities in Europe’ Now AvailableThe European Union Committee of Experts on Rare Diseases (EUCERD) has released a report on the state of rare disease activities in Europe. RDUK contributed to the UK section of this report which covers activities up to the end of 2010. It is available online in three parts: Part I: Overview of Rare Disease Activities in Europe and Key Developments in 2010 Part II: European Commission and European Activities Part III: Activities in European Member States and other European countries International Rare Disease Research Consortium (IRDiRC) UpdateThe IRDiRC is a jointly funded research initiative established by the European Commission and the US National Institutes of Health which aims to develop diagnostic tests for 8000 rare diseases and double the number of registered orphan drugs by 2020. It recently revealed its plans to industry at the Biotechnology Industry Organisation convention in Washington DC. The IRDiRC will have a meeting in Montreal in October to finalise its plans which will focus on the perspectives and needs of industry. The IRDiRC aims to pull in other national funding agencies, asking each to donate $10 million to be part of the consortium. Spain was the first country to formally join. Rare disease research is a priority of the 2008-2013 FP7 with €237 million invested from 2007-2010. The Commission has promised a further €100 million in the next FP7 call in 2012. The IRDiRC will network the world’s top scientists and the ‘large and coordinated’ effort will aim to understand the pathophysiology of rare diseases, conduct genomic analyses, develop disease models for use in drug discovery and development, and support patient registries and related biobanks. The consortium has already attracted industry, academics, governments, regulators and patient advocacy groups, and more will join once the organisation formally gets of the ground. EUROPLAN Final ReportThe final report of the 15 European EUROPLAN conferences, including the UK conference held by RDUK in November 2010, is now available. This can be downloaded from our website here. Chain of Trust ProjectThe ‘Chain of Trust’ project began in January this year and aims to identify patients’ and healthcare professionals’ perspectives of telehealth services across the EU to see if and how these have changed since telehealth was first introduced. The project will result in a unique and unprecedented assessment of the views, needs, benefits and barriers related to telehealth from the perspective of patients and health professionals. For more information on this project, please see the Chain of Trust website at http://www.chainoftrust.eu/ Upcoming EventsRDUK AGM, 12th September 2011- last few places remaining!RDUK will be holding our AGM on the morning of Monday 12th September at the NCVO in London. As well as providing the opportunity to learn more about RDUK’s activities over the past year and what we have planned for the future, Dr Ed Jessop from the National Specialised Commissioning Team will be in attendance to give members an update on a strategy for rare diseases and how RDUK and our members have contributed and can continue to contribute to the development of a strategy moving forward. There will also be the opportunity to participate in the monthly RDUK Management Committee meeting. Further details of the day can be found here. If you would like to attend, please contact Stephen Nutt on . Alstrom Syndrome UK (AS UK) Conference 2012Alstrom Syndrome UK’s next conference will be held on Saturday 24th March 2012 at the Menzies Strathallan Hotel in Birmingham. The hotel will offer families wishing to attend a reduced rate if bookings are made well in advance, so please contact Lucy Tromas at the hotel on 0121 224 1753 as soon as possible and mention the AS UK conference to secure the best deal. Families needing financial assistance to cover their accommodation costs need to apply to the AS UK’s Board of Directors, please contact Dan Jagger on for more information. Anyone wishing to attend the conference should inform Kerry Leeson-Beevers on 01709 210151 or . British Paediatric Surveillance Unit (BPSU) SymposiumThe BPSU is holding a half day symposium on paediatrics and health protection as part of the Health Protection Agency Conference on Wednesday 14th September. This will celebrate 25 years of the BPSU and will review their contributions and impact on public health policy. Sessions will look at key milestones in paediatric health protection and screening, surveillance and vaccination policy. These will provide delegates with an insight to past and present BPSU studies, and the opportunity to discuss new developments within the BPSU with both national and international partners. For further details or to book your place, please visit the Health Protection 2011 website on www.healthprotectionconference.org.uk. New MembersChamps Appeal was set up to raise awareness of children with bladder and bowel disorders, dysfunctions and diversions. They raise funds to directly benefit these children through supporting research, raising awareness of the condition and running support groups. Olivia’s Vision provides information and support for patients and families living with uveitis. They run a helpline to answer your questions on the condition and provide medical information in lay language to help people better understand uveitis. The Society for Mucopolysaccharide Diseases (MPS Society) is a voluntary support group representing the 1200 people living in the UK with mucopolysaccharide and related lysosomal storage diseases. It aims to raise awareness, act as a support network for those affected by the conditions and promote and support research into these diseases. IIH UK provides information and support on idiopathic intracranial hypertension to patients, families and medical professionals. The Kallmann Syndrome Organisation has been set up to provide information for patients of Kallmann syndrome and their families, and to increase awareness of the condition to healthcare professionals. I Have IIH is a support forum for people living with idiopathic intracranial hypertension. It is run by people living with the condition who aim to help patients achieve a more positive and productive life and encourage them to share their support and coping strategies with other members. Topics on the forum include general discussions for patients, parents, partners and friends, medication, surgery, vision, weight problems and helpful coping methods. Cancer52 is an alliance of more than 40 organisations (including RDUK) working to address the inequalities that exist in policy, services and research into the less common cancers and to improve outcomes for patients with these highly challenging diseases. FacialNervePalsy.com is run by people with facial palsy and brings together all the information they have learnt to support other people living with the condition. This includes information on the causes and types of facial palsy, treatment and surgery options available, how to get support and numerous personal stories from people living with facial palsy. The Mesothelioma Center offers assistance to people with mesothelioma through reading materials and patient and family advocates that are available to discuss support options and answer queries on the condition. Fight for Sight is the largest charity in the UK dedicated to funding research into blindness and eye disease. A proportion of their funds go towards research into rare eye diseases. Please do get in touch if there is something we can help you with and remember to follow RDUK on Twitter (@rarediseaseuk) to keep up to date with what we’re up to. Enjoy the summer! Best wishes Lauren RDUK Secretariat |
Rare Disease UK is supported by an unrestricted educational grant from the ABPI
Orphan Disease Industry Group and the Orphan Disease Industry Group Partnership