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Rare Disease UK Newsletter, April – May 2011Dear Rare Disease UK member, Welcome to our newsletter for April and May, keep reading to find out what we’ve been up to recently and what’s been happening in the rare disease community. As always, a massive thank you to all our members for your continued support. ContentsClick on the headings below to skip to: RDUK News and ActivityDevolved nation election campaigns Development of our strategy report Meetings and events All change at RDUK! Policy news News from Our MembersSyndromes Without A Name (SWAN) UK re-launches Genetic Alliance UK 'Risks and Benefits' project recruiting now Muscular Dystrophy Campaign launches new report - 'Invest to Save: Improving Services and Reducing Costs' Genetic Alliance UK annual conference Other NewsBBC News Wales feature on tuberous sclerosis 'Hardest Hit' march Launch of International Rare Disease Research Consortium (IRDiRC) Summary report from EUCERD meeting Inserm knowledge assessment on rare diseases NHS Summary Care Records Channel 4 programme looking for contributors 'Born to Be Different' to air in June Upcoming EventsPatients Involved in NICE (PIN) seminar on the use of unlicensed and off-label treatments, 23rd June, London ‘Thalidomide – 50 Years On’ Event, May 2012, London New Membersnaitbabies.org HEART UK Wilson's Disease Support Group (UK) Thyroid Eye Disease Charitable Trust (TEDct) SWAN UK
RDUK News and ActivityDevolved nation election campaignsAhead of the elections in Wales, Scotland and Northern Ireland on the 5th May, RDUK held campaigns to gain pledges of support for a rare disease strategy from parliamentary candidates. This involved asking our members to contact their candidates to inform them of, or raise awareness of, the issue of rare diseases and to ask them to sign our pledge form to give their support to a rare disease strategy. We are very grateful to all of you who took the time to contact your local representative(s). We are pleased to say that we have received numerous pledges of support with more continuing to come through. This has proven to be a great way to gain new support as the majority of returned pledges are from new or not previously supportive elected representatives. Scotland – We have so far received 27 pledges of support from Scotland, of which 16 of the supportive candidates were elected on 5th May. 13 of the elected supporters are new Members of the Scottish Parliament (MSPs) or previously not actively-supportive MSPs. Notably, the leaders of both the Scottish Labour party and the Scottish Liberal Democrats pledged their support. Wales – We have received 13 pledges of support, of which 8 were elected Assembly Members (AMs). Six of these were new or previously non-supportive AMs. We received support from Lesley Griffiths AM who has been newly appointed as Minister for Health and Social Services. Plaid Cymru also expressed their support as a party for a strategy for rare diseases in Wales. Northern Ireland – We received five pledges of support from Northern Irish candidates, all of whom were elected as Members of the Legislative Assembly (MLAs). We hope to continue to gain support from parliamentary representatives, and will now be contacting all those elected to raise awareness of rare diseases and the need for a national strategy for rare diseases. We hope to strengthen the relationship with those pledging to support a strategy and we will be getting in touch with them shortly to see how we can work together. Development of our strategy reportBe assured that we haven’t been resting on our laurels since the launch of our report ‘Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy’! We have since been working hard to disseminate and build on the report, and recently had a meeting will all staff with a role in RDUK and members of the Management Committee to discuss the recommendations in more detail. We used this meeting as a springboard to developing our public affairs strategy to ensure that each of the 85+ recommendations laid out in the report are implemented in the UK. Of course we hope that each of these recommendations are included in a strategy for rare diseases, but even when a strategy is in place, there will be work to be done to ensure it is implemented. We will be having another strategy meeting early July. Following this, we will be able to share with you our plan of action. Meetings and eventsOn 11th -14th April, RDUK was in Birmingham at the Society of Endocrinology Conference. This was a great opportunity for us to catch up with some of our members and make new connections with other groups. Our Executive Officer, Stephen Nutt, gave a talk to patient organisations on how they can get involved in RDUK’s work and highlighted the importance of working together to make a difference for rare disease patients and their families. We are very grateful to our members, the Society for Endocrinology for providing us with a stand.
On 10th/11th May, RDUK attended the NICE 2011 Annual Conference. The focus of the conference was quality and how quality can be improved at a time of limited resources; NICE’s expansion to cover both health and social services, including the new Quality Standards which will be used to drive quality across these areas; restructuring of the NHS and discussion around the new value-based approach to the pricing of medicines – the consultation about which RDUK responded too (click here for our response). We participated in the Council of National Alliances (CNA) meeting in Amsterdam, which brings together rare disease alliances from across Europe. Here we had a review of the outcomes of the EUROPLAN project, which we held the UK conference for in November last year; discussed the upcoming EUROPLAN 2 project; reviewed Rare Disease Day 2011 activities taking place across the world; discussed the objectives and theme for Rare Disease Day 2012. The following days saw the Eurordis General Assembly meeting, which brought Eurordis members together from across Europe to discuss matters including national strategies from rare diseases and Europlan activity. All change at RDUK!At the end of April our manager Melissa Hillier went on maternity leave. She will be away for the next year, during which time her role will be covered by Buddug Cope. Some of you may already know Buddug from her previous role as RDUK’s representative in Wales, and we are very pleased to welcome her to this new position whilst Melissa is away. Rhian Morgan has now started as RDUK's representative in Wales. At the time of writing Melissa is still yet to have her baby (a week overdue!), but we will keep you updated on the new arrival! Policy newsThe policy news this month is that there is not much news! As you know, in England the “listening exercise” has been conducted in order to gather more evidence around the Health and Social Care Bill. We still do not know for sure what effect this will have and what changes will be made. We know the Department of Health is continuing to work on developing the strategy for rare diseases and is consulting with officials in Scotland, Wales and Northern Ireland. It has also been very quiet in terms of value based pricing for medicines, so it’s a matter of waiting for the government’s response.
News from Our MembersSyndromes Without a Name (SWAN) UK re-launchesSWAN UK has been re-launched by Genetic Alliance UK to offer support and information to families of children with undiagnosed conditions. By sharing information, contacts, resources and stories SWAN UK aims to:
For more information, contact Lauren Roberts, Project Officer, on or have a look at SWAN UK’s Twitter page @SWAN_UK. Genetic Alliance UK ‘Risks and Benefits’ project recruiting nowGenetic Alliance UK are recruiting for an innovative and exciting research project on new medicines. They are looking for 16 people affected by a severe rare or genetic condition to take part in a Citizen’s Jury later this year. Chosen jurors will get the opportunity to voice their opinion on the risks and benefits of new medicines, and will also be paid for their time. For further information about the project and how you can get involved, visit the Genetic Alliance UK website where there is a short explanatory video clip and a form to register your interest. Alternatively please contact Project Officer Amy Simpson (). Muscular Dystrophy Campaign launches new report – ‘Invest to Save: Improving Services and Reducing Costs’May 11th saw the launch of a new report from the Muscular Dystrophy Campaign, which reveals that the NHS wastes £31 million each year on unplanned emergency hospital admissions for muscle disease patients that could be avoided through proper access to specialist care and equipment. This backs up our ‘Improving Lives, Optimising Resources’ report which recommends actions to ensure that rare disease patients are able to have timely access to the services they require to both maximise their health gain and make the best use of NHS resources. For further information on the Muscular Dystrophy Campaign report, please visit their website here. Genetic Alliance UK Annual ConferenceMay 24th saw the annual Genetic Alliance UK conference take place in London. The theme of this year’s conference was ‘The new NHS – will it deliver equity and excellence for families with genetic conditions in the UK?’ and the day featured talks from a variety of guests on how the new NHS will affect local practices, national commissioning, the conjunction of health and social care and future research into genetic conditions. Attendees also heard a patient and family perspective on the proposed changes to the NHS and the day ended with an insight from Evan Harris, former MP for Oxford West and Abingdon and Liberal Democrat science spokesman. More information on the conference, including the presentations, will soon be available on the Genetic Alliance UK website.
Other NewsBBC News Wales feature on tuberous sclerosisOn the back of the Rare Disease Day reception in Cardiff on March 16th, BBC News Wales featured a story on Trystan who has tuberous sclerosis and a potential new treatment being researched at the Cardiff University’s Institute of Medical Genetics. See this here. ‘Hardest Hit’ marchOn the 11th May up to 8,000 people took to the streets of London to protest against cuts to disability benefits and services. Protesters also took the opportunity to speak to their MPs and raise awareness of the issues with them. Some of RDUK’s members, including Action Duchenne, were amongst those protesting. Read more about the march here. Launch of the International Rare Disease Research Consortium (IRDiRC)Following a preparatory meeting in October last year, last month saw the official launch of the IRDiRC. This saw stakeholders from Europe, America and Canada, including patient organisations, researchers, research funding bodies, industry members and healthcare professionals, coming together to discuss the goals of the Consortium and the current challenges facing rare disease researchers. The project aims to promote global collaboration to see the development of diagnostic tests for all rare diseases and 200 new therapies for rare diseases by 2020. The next meeting of this group will be in October 2011 and until then efforts will be concentrated on strengthening collaboration and recruiting new members. More information can be found here. Summary report from EUCERD meetingThe summary report of the second EUCERD, European Union Committee of Experts on Rare Diseases, meeting is now available. Alastair Kent, Chair of RDUK, sits on this committee. The last meeting was held on the 22nd and 23rd March and discussed membership of EUCERD and an update of activities, Rare Disease Day 2011, the Europlan project final report and conferences, a road map for the implementation of the EU policy on rare diseases, the EU public health work programme, a joint action on rare diseases to support implementation of the council recommendation and commission communication, an update on FP7 and European reference networks on rare diseases. Inserm knowledge assessment on rare diseasesThe French National Institute of Health and Research (Inserm) is performing a knowledge assessment on rare diseases in order to better organise care for patients with these conditions. This will include the organisation of services to better evaluate impairments and skills of patients, reduce exclusion, and improve care and quality of life for rare disease patients. To help with this task, Inserm are looking for documents on the following:
If anyone has anything relevant that they could send to Inserm, please email it to , and . Alternatively you can post anything to Chantal Grellier, Inserm collective expertise center, Faculty of Medicine Xavier Bichat, 16 rue Henri Huchard BP 416, 75890 Paris cedex 18, France. NHS Summary Care RecordsThe NHS in England is gradually introducing Summary Care Records for patients. These will be electronic records which will contain important information on medications a patient is taking and any allergies or bad reactions they have had to any medicines. NHS healthcare staff will then be able to access this information when necessary, for example in an emergency situation, to ensure that the patient receives the safest treatment for them as quickly as possible. Patients will be receiving a letter and information pack from their local NHS, and will be able to opt out if they do not wish to have a Summary Care Record. They will also be able to request to have other information added to their record. In terms of rare diseases, this may be a good opportunity to add information specific to their condition that is not widely known by professionals. Patients should speak to their healthcare staff to discuss this. For further information, please see here. Channel 4 programme looking for contributorsRDUK has been contacted by Maverick Television to help them find contributors for a new documentary series they are producing. This series will meet the people behind rare or extraordinary medical conditions. Each episode will follow a single person as they experience a life changing event or medical operation. This new Channel 4 series will continue Maverick Television’s reputation of high-end medical programming. Their past productions include Embarrassing Bodies, Children’s Hospital and the critically acclaimed Charlotte’s Story.They are aiming to increase understanding of specific conditions, whilst also creating a voice for the extraordinary people and human triumphs that exist behind difficult situations or disabilities. This series will be accompanied by a new online service, allowing people to share experiences and discuss the emotional questions that accompany difficult or debilitating conditions. If you or a family member is potentially interested in telling your story, please contact Phill ASAP to discuss this further - tel. 0121 224 8378 or . ‘Born to Be Different’ to air in JuneFor 11 years Channel 4 have been following the lives of six remarkable children all born with a disability in their documentary ‘Born to Be Different’. The next installment of the lives of these children and their families will air this month, with programmes on the 9th, 16th and 23rd of June. One of the children featured, William, has tuberous sclerosis, a rare disease, and the programme provides a good insight into some of the issues facing families living with a rare condition.
Upcoming EventsPatients Involved in NICE (PIN) seminar on the use of unlicensed and off-label treatments, 23rd June, LondonPIN, in collaboration with RNIB, will be holding a seminar on the use of unlicensed or off-label treatments where licensed alternatives exist. This will be from 9.30am – 4pm on Thursday 23rd June at the Wellcome Collection in London. The seminar will look at the impact using unlicensed treatment has on patient safety, the current regulatory system and the development of innovative new treatments. Anyone interested in attending should contact Andy Pike, ‘Thalidomide – 50 Years On’ Event, May 2012, LondonThe Thalidomide Society will be holding an event on the 25th - 26th May 2012 at the London Hilton Metropole Hotel to commemorate 50 years since the end of the thalidomide drug disaster in May 1962. The event will comprise of presentations from several notable speakers, an art exhibition, and an evening gala dinner and disco. If you are interested in attending, please contact Louise Medus-Mansell at .
New MembersNaitbabies.org – is a non-profit organisation set up to raise awareness and knowledge of neonatal alloimmune thrombocytopenia (NAIT), a rare condition that can affect foetuses and newborn babies. HEART UK – is the national cholesterol charity which is passionate about preventing premature death caused by cardiovascular disease. Their remit includes familial hypercholesterolaemia (FH) which is an under-diagnosed condition known to affect 15,000 people in the UK. Wilson’s Disease Support Group (UK) - is a support group for patients with Wilson’s disease, their families and friends. They provide information on the condition and promote networking of Wilson’s disease patients and families, as well as raising awareness of the condition within the medical profession. Thyroid Eye Disease Charitable Trust (TEDct) – aims to provide information, care and support to those affected by thyroid eye disease. SWAN UK (Syndromes Without A Name) – SWAN UK has recently re-launched to offer support and information to families of children living with an undiagnosed genetic condition.
If you have an upcoming event that you would like to publicise in our newsletter, please contact me on or follow RDUK on twitter @rarediseaseuk. 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