Rare Disease UK Newsletter - May 2010
Dear RDUK member,
Please see below an update for the month of May.
Contents
please click on the headings below to skip to:
Other News
General Election
It seems like forever ago now, but since the last monthly update the general election has taken place and we are now working with a new Government! Since the election we launched our contact campaign to bring the issue of rare diseases to the attention of MPs both new and returning. A big thanks to those of you who have contacted your MP; I know many of you have and it has been good to see the support for a strategy for rare diseases in their responses. Some members are meeting with their MP as a result of the contact campaign which is a good opportunity to generate greater awareness and support for rare diseases. If you are meeting with your MP and would like some pointers of what to talk about, we are happy to supply a briefing. If you have not contacted your MP yet please do. If you are a patient organisation, please encourage your members to do so also! This is a crucial time to gain political support, to ensure the voice of the rare disease community is heard and to stop rare diseases getting lost amongst the many health issues which will be bought to the attention of politicians.
To download a template letter and for more information on contacting your MP please click here.
It has become increasingly apparent that the NHS will not escape financial pressures so we will be working to ensure that a strategy for rare diseases is viewed in terms of using resources more efficiently with better outcomes for the patient. Patients with rare diseases are often heavy users of NHS resources, but these resources are not used in a way which enables the best health-gain and best experience for the patient. Failing to address rare diseases in a strategic way doesn't mean that money isn't being spent!
The All Party Parliamentary Group on Rare Diseases
As many of you know we are hoping to re-establish the All Party Parliamentary Group on Rare Diseases. We are planning for the group to be more active in raising the profile of rare diseases in Parliament and looking into issues of concern to the rare disease community. We also hope to collaborate with other APPGs on issues of mutual concern.
We need to secure a certain number of MPs or Lords from each political party otherwise we will not be able to re-register the APPG. The best way to secure the necessary members is by you, their constituents making it clear why they should join, so another plea – if you haven’t contacted your MP yet, please do!
Download template letter here.
Reflecting the high turnover of MPs at the election generally, many of the MPs that were members before the election stood down, failed to get re-elected, or have gained ministerial positions meaning that they do not have time to dedicate to APPGs (more on this below). This makes it all the more important to attract new support.
Above: Anne Begg MP
We are delighted to announce that Anne Begg MP has agreed to chair the APPG. Anne is the MP for Aberdeen South and she is committed to improving services for patients with rare diseases and their families. Anne has firsthand experience of rare disease as she has Gaucher’s disease.
The MPs that have agreed to join the APPG on Rare Diseases so far are:
Anne Begg MP (Labour – Aberdeen South)
Baroness Thomas of Winchester (Lib Dem Peer)
Dave Anderson MP (Labour – Blaydon)
Mark Durkan MP (SDLP – Foyle)
John Leech MP (Lib Dem – Manchester Withington)
Heidi Alexander MP (Labour - Lewisham East)
Lord Walton of Detchant (Crossbench Peer)
Peter Bottomley MP (Conservative – Worthing West)
Nigel Dodds MP (DUP – Belfast North)
Peter Lilley MP (Conservative – Hitchin and Harpenden)
Jenny Chapman MP (Labour – Darlington)
Edward Timpson (Conservative – Crewe and Nantwich)
Tony Lloyd MP (Labour – Manchester Central)
Ian Mearns (Labour – Gateshead)
We need 5 more MPs from either the Conservative party or the Lib Dems to be able to re-register the Group so if your MP is from either of these parties it would be particularly helpful if you could contact them (although if your MP is from another party please do still contact them – the more members the better!)
Please click here to download a template letter.
All Party Parliamentary Groups are informal groups in Parliament made up of MPs and Lords from each political party to champion and raise awareness of specific causes or issues in Parliament.
Rare Disease UK welcomes new ministerial team at the Department of Health
We have written to the new health ministers to congratulate them on their appointment and to ensure that they appreciate the issues facing people with rare diseases and their families and the need for a strategy for rare diseases.
The new ministerial team are as follows:
Secretary of State for Health – Andrew Lansley MP
Minister of State for Health – Simon Burns MP
Minister of State for Care Services – Paul Burstow MP
Parliamentary Under Secretary of State for Public Health – Anne Milton MP
Parliamentary Under Secretary of State for Quality – Earl Howe
We were particularly pleased with the appointments of Anne Milton MP and Earl Howe. Anne Milton was the chair of the All Party Parliamentary Group on Rare Diseases in the last Parliament but had to stand down in light of her new ministerial commitments. Earl Howe was a member of the APPG and he has also been very supportive to RDUK including hosting our fringe event at the Conservative Party Conference last October. Earl Howe was also vice-chair of the Specialised Healthcare Alliance, demonstrating his commitment to the importance of specialised services. We hope that both continue to advocate the needs of patients and families with rare diseases and we hope to be able to continue to work with them in moving forward a strategy for rare diseases.
New interim Chief Medical Officer
Whilst we’re on the theme of new arrivals and departures, Sir Liam Donaldson has now stood down as the Chief Medical Officer for the Department of Health. You may recall that Sir Liam included a chapter on rare diseases in his Annual Report 2009. The report recommended a series of measures to improve the quality of services offered to children and adults with rare diseases including improving the coordination of specialist centres and strengthening research to develop and market medicines for rare diseases.
Professor Dame Sally Davies has been appointed as the interim Chief Medical Officer. Professor Davies is the Director General of Research and Development and Chief Scientific Adviser for the Department of Health and NHS. We have built up good links with Professor Davies through the work of Genetic Alliance UK and we will contact her to ensure that Sir Liam’s Annual Report stays on the agenda.
Other news
Patients’ and families’ experiences of rare diseases
Rare Disease UK will be compiling a new publication highlighting patients’ and families’ experiences of rare diseases in the UK. We hope to use the publication to raise awareness of some of the issues patients and families face. To inform this publication, we will shortly be launching a short survey which we hope as many people as possible will complete. The results of the survey along with case studies will appear in the publication which we will launch at Westminster in October (more details will follow soon).
The results of the survey will also be used as evidence to inform our Working Groups which are looking in to why a strategy for rare diseases is needed and what an effective strategy should encompass.
A link to the survey will be sent out in the coming days and we would be very grateful for your participation if you are a patient with rare diseases or a family member/carer. The more responses we receive the more weight the survey will have!
Genetic Interest Group becomes Genetic Alliance UK
As of the 1st June, the Genetic Interest Group became Genetic Alliance UK, complete with new branding and website (www.geneticalliance.org.uk).
The rebranding follows a consultation in 2009 which revealed that although many stakeholders felt that GIG was an extremely well-respected organisation, the work of the organisation was not always well understood. The new name and branding hopefully provides a better insight into the voices Genetic Alliance UK represents and the work that it does.
Department of Health confirms representation at EUROPLAN Conference
We were delighted to receive confirmation that the Department of Health will be participating in the EUROPLAN conference which we are hosting in Manchester on the 16th November. Dr Edmond Jessop from the National Commissioning Group will represent the DH at the conference and will be giving an update on the progress that has been made towards implementing the European Council’s recommendation on an action in the field of rare diseases which the UK government endorsed in June 2009.
EUROPLAN is a three year project funded by the European Commission (DG Sanco) which began in April 2008. Its main goal is to produce recommendations on how to develop national strategies for rare diseases. It aims to assist and encourage member states in developing national health policies to ensure equal access and availability of prevention, diagnosis, treatment for people with rare diseases.
EUROPLAN is an opportunity for patients or those working in the field of rare conditions to input into the policy debate around the commissioning, organising and coordinating of services in the UK. Whatever your background we would like to hear your experiences and learn and build on the good practice that is already in existence for some rare conditions. The findings from the EUROPLAN project will have direct relevance to EU Health Ministers and will enable national stakeholders to communicate their experiences of rare conditions to be shared amongst other member states.
The UK workshop is being organised by Rare Disease UK and Genetic Alliance UK on the 16th November at the Nowgen Centre in Manchester.
For more information on the UK EUROPLAN Workshop please click here.
If you would like to attend or for further information please contact Melissa Hiller:
For more information on EUROPLAN, please visit the EUROPLAN website.
Another positive response from Scottish Health Secretary
Brian Adams MSP tabled two written questions (S3W-33417 and S3W-33418) in the Scottish Parliament to the Scottish Health Secretary, Nicola Sturgeon MSP, regarding what progress the joint liaison group of the four UK health departments has made in exploring possible collaboration in the provision of services for rare diseases and also what areas of collaboration are being looked into. The response was:
“Officials from the four UK Health Departments are continuing to explore areas of possible collaboration and progress in the provision of services for people with rare diseases in line with the EU Council Recommendation’s request for a report on implementation of its actions by 2013. The areas under exploration are those contained in the EU Recommendation, and are as follows:
Plans and strategies in the field of rare diseases;
Adequate definition, codification and inventorying of rare diseases;
Research on rare diseases;
Centres of expertise and European Reference Networks for rare diseases;
Gathering expertise on rare diseases at a European level;
Empowerment of patient organisations, and
Sustainability”
We are delighted with the positive responses received recently from the Scottish Government; as recently as December 2009 responses from the Scottish Government implied that no specific steps were being taken to meet the Recommendation so we very much welcome this renewed affirmation of the Scottish Health Department’s collaborative working with the other health departments of the UK.
National Institute of Health Funded Study
The National Human Genome Research Institute at the National Institutes of Health (NIH) in the United States is sponsoring a study that seeks to learn more about how parents of children with an undiagnosed medical condition think and feel about their child's condition. We hope that this knowledge will improve the health care and counselling for these parents. Men and women who are 18 years or older and have at least one child with a medical condition that has remained undiagnosed for more than 2 years are needed to take part in this study.
Participation involves one survey that takes about 45 minutes to finish. The survey can be taken online or a paper copy can be mailed to you.
For additional information about this study, you may review the Notice to Participants disclosure.
If you have questions, please contact:
Anne C. Madeo, MS, Principal Investigator Genetic Counsellor National Human Research Institute National Institutes of Health Bldg. 31, Room B1B36
31 Center Drive, MSC 2073
Bethesda, MD 20892-2073
Phone: 301-443-2635
Email:
Wales to get two muscle disease care advisors
There was good news for patients with muscle disease in Wales after the Welsh Assembly Government’s First Minister, Carwyn Jones, confirmed that two care advisors would be appointed. We have heard from members that the standard of care for neuromuscular disorders declined in the absence of care advisors in Wales so this is a very welcome move. The full story is available on the Muscular Dystrophy Campaign’s website.
PCD Family Support Group gets new website
The Primary Ciliary Dyskinesia Family Support Group has a new website with the help of Jeans for Genes. The new website contains much more practical information and advice for PDC patients and real life case studies of people affected by the condition. The website can be visited here.
Rare Disease UK Working Groups
During May, the second meeting of the Working Group on Commissioning and Planning took place. The Group discussed the underlying principles of effective commissioning. The Group concluded that there is a need for the group to collate examples of good and bad commissioning to provide evidence to be used in the report. There is a need to identify where the system is broken and how it could work better and practical examples will enable this.
During June, there will be meetings of the Working Group on Prevention and Diagnosis and the Working Group on Patient Care, Information and Support.
The initial findings of the Working Groups and a call for evidence will be released late summer. We would very much welcome your input.
For more information on the Working Groups, please contact Lauren Limb:
There are five multi-stakeholder Working Groups who are looking into why a strategy is needed, recommendations as to what a strategy should include and outcome measures to evaluate the success of a strategy for rare diseases.
Some of RDUK’s other activities during May
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We went to Newcastle University to learn more about TREAT-NMD, the network for neuromuscular disease, to inform our report into a strategy for rare diseases. Thank you to the TREAT-NMD team for a very informative day.
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We met with Steve Collins, Director for Policy and Coordination and Josie Godfrey, Head of Policy and Coordination at the National Commissioning Group (NCG) to update them on our progress and to discuss what the changes to the NCG brought about by the recent Consultation on Strengthening National Commissioning will mean in practice.
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In Edinburgh we met with representatives from the Scottish Government: Will Scott – Head of long term conditions; Dr Ros Skinner - Principal Medical Officer in the Public Health and Health Policy Division and advisor to the Chief Medical Officer; Dawn Kofie – Healthcare planning, long term conditions unit. We discussed the background to the call for a strategy and how we can highlight examples of good practice in Scotland and build upon these in a strategy. We were pleased with the response and we hope to work with long-term conditions unit in developing a strategy.
Events
Some of our members/supporters have asked me to include some events that may be of interest:
The International Conference on Behcet’s Disease
Queen Mary University, London 8th-10th July
The Behcet’s Syndrome Society is planning a diverse programme of medical presentations from experts from around the world. They are also going to provide time for patients to share experiences and issues. Topics to be covered will include Gastroenterology, Rheumatology, Ophthalmology, Paediatrics, New drugs & research, Fatigue and the Psychological effects of living with a long-term condition.
For more information, please see http://www.behcetsonline.org.uk/
The 7th International 22Q11.2 Deletion Meeting and the 10th Annual Max Appeal Conference
Ricoh Arena, Coventry 29th - 31st July 2010
You are cordially invited to this landmark event, taking place over three days as “back to back” meetings for parents and professionals. The scientific programme will run on the 29th and 30th July, with the family programme being run on the 30th and 31st July.
For more information please visit: www.22qdeletion.com or contact Julie Wootton –
Birdshot Chorioretinopathy - Bringing together patients and specialists
London, 11th September 2010
A unique partnership has been established between a patient support group, the Birdshot Uveitis Society (BUS) and Moorfields Eye Hospital to:
1. Develop a data-base for Birdshot Chorioretinopathy (Birdshot), a rare (orphan) disease
2. Develop a research programme
3. Run a Patient Camp
Birdshot is poorly understood, often undiagnosed and no current database exists. However, an initial survey, undertaken by patient experts suggests there are at least 400 people in the UK with this disease.
Birdshot is a relatively new auto-immune, chronic, bilateral, potentially blinding posterior uveitis that affects adults of all ages. There is emerging evidence that it may affect children too.
If you are diagnosed with Birdshot Chorioretinopathy or are interested in Birdshot Chorioretinopathy (either as a healthcare professional or as a relative), you can register at www.birdshot.org.uk or email: for further information.
A Conference on PSP and CBD, for Carers and Medical Professionals
St Thomas’s Hospital, London, 15th September 2010
Leading neurologists and health and social care professionals will speak about research and support for those affected by PSP (Progressive Supranuclear Palsy) and CBD (Cortico Basal Degeneration). The Symposium is open to carers, therapists and health and welfare professionals with an interest in PSP and CBD. The study day will be accredited and certificates will be provided.
Sessions will include:
Introduction to PSP and CBD
Overview of research
Behaviour and cognition
Balance and mobility
Communication issues
Support for carers
Palliative care
Continuing Care appeals
Tickets*: £35 for Carers / PSP Association subscribers and £60 for Professionals and non subscribers. Book by 30th June for the early-bird professional rate of £50!
*Price is subsidised and includes Tea / Coffee and Lunch. Tickets are available on a first come, first served basis. Space is limited, so book early!
For more information and a registration form contact:
Deborah Wheeler, The PSP Association, PSP House,
167 Watling Street West, Towcester,
Northants NN12 6BX
T: 01327 322415
F: 01327 322412
E:
New members
We are delighted to welcome the latest partners to the campaign for a strategy for rare diseases.
British Society for Endocrinology – The Society for Endocrinology is the major British society representing scientists, clinicians and nurses who work with hormones. The Society was established to advance scientific and clinical education and research in endocrinology and to raise the profile and awareness of endocrinology. The society has over 1900 members and is open to anyone in the world.
Polio Survivors’ Network – The Network is a national support group for polio survivors experiencing the affects of post polio syndrome.
Multiple System Atrophy Trust - The Sarah Matheson Trust was established in 1997 to offer information and support to all people affected by MSA. MSA is a progressive neurological disorder that affects adult men and women. The symptoms experienced and the needs of people with MSA can vary widely.
If you have any queries or if there is anything you would like me to include in the next newsletter, please contact me.
Best wishes,
Stephen - Rare Disease UK Secretariat
020 7704 3141
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