Rare Disease UK Newsletter
1st June – 15th July 2010
Dear RDUK member,
Apologies for not sending the newsletter at the beginning of the month. Things have been rather hectic here at Rare Disease UK. Better late than never, here is the latest monthly (and a half) update.
Reminder: please participate in our Patients’ and Families’ Experiences of Rare Disease survey. For more information, please click here.
Contents
Please click on the headings below to skip to:
The Department of Health White Paper
Positive response from health minister to strategy on rare disease
Government response to Health Select Committee Inquiry on Commissioning
All Party Parliamentary Group on Rare Diseases
Patients’ and Families’ Experiences of Rare Disease survey
Orphanet
Launch of the TREAT-NMD Standards of Care for Duchenne Muscular Dystrophy
Genetic Alliance UK Annual Conference
Westminster
Scotland
Wales
Northern Ireland
Additional Activity
Mal de Debarquement Syndrome Awareness Month
Naomi Long MP becomes patron of The Cavan Tommy Hoey Trust
The Children’s Foreword; An Educational Framework for AHPs working with children and young people
Help Keep BioNews Free!
PSP Association on Radio Ulster
The European Medicines Agency Launches New User-Friendly Website
Royal College of Nursing Launches New Campaign: Frontline First
The 7th International 22Q11.2 Deletion Meeting and the 10th Annual Max Appeal Conference
Birdshot Chorioretinopathy - Bringing together patients and specialists
A Conference on PSP and CBD, for Carers and Medical Professionals
Policy News
The Department of Health White Paper
The Department of Health White Paper, Equity and Excellence: Liberating the NHS was released on Monday 12th July. The White Paper proposes one of the most radical restructures of the NHS in its history.
Rare Disease UK will be keeping a close eye on the policy detail which will be released over the coming months as we have some concerns, most specifically about how the GP commissioning consortia will link with other levels of commissioning and also the linkages between the new consortia and the devolved nations. Also, we would like further detail on how providers of care on different levels, from those working locally to specialists, will be empowered to work in a coordinated way to provide integrated, multidisciplinary care.
There was, however, much to welcome in the White Paper as long as the principles outlined are backed up by detailed plans which are implemented effectively to make real improvements for patients. Some of the points we welcome include:
- The retention of national and regional commissioning, which will come under the remit of a new NHS Commissioning Board. We would like more detail on these arrangements and await the further publication due to be launched this month
- Shared decision making and putting the patient at the heart of care
- Reductions in inequalities in care
- Increased patient access to information, including increased control over their records and more information on research
- Integration of health and social care and creating a system that works more effectively across boundaries
- The recognition that research is vital in order to identify new ways of preventing, diagnosing and treating disease.
- The continued emphasis on Quality, Innovation, Productivity and Prevention (QIPP)
We look forward to the opportunity to comment on the proposals in more detail.
If you or your organisation have any observations or comments on the White Paper that you think we should take into account, please don’t hesitate to send them
The White Paper is available at: http://www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_117353
Positive response from health minister to strategy on rare diseases
We were delighted to receive the first confirmation from the Department of Health (DH) in a response to a written parliamentary question that a plan for rare diseases is being developed. Previous responses have indicated that scoping on how the European Council Recommendation can be implemented is underway, but haven’t gone so far as saying a plan is being developed.
We are also encouraged by the reassertion that the DH is working collaboratively with the Devolved Administrations as this will be crucial to a successful plan or strategy for rare diseases.
Rare Disease UK will continue to monitor progress and we hope to work with the DH and the Devolved Administrations to shape an effective strategy and we hope that the findings of our Working Groups and the subsequent report will be taken on board.
See below the written question and the subsequent response:
Ian Liddell-Grainger MP for Bridgwater and Somerset asked:
To ask the Secretary of State for Health what plans his Department has to implement the provisions of the Council Recommendation for a European Action on rare diseases (2009/C 151/02)
Anne Milton MP, the Parliamentary Undersecretary of State for Public Health, responded:
The Department is working with the Devolved Administrations and key interest groups to develop a plan for rare disease by 2013 in line with the Council’s recommendation.
Government Response to the Health Select Committee on Commissioning
The Government has responded to the Health Select Committee Inquiry on Commissioning which Rare Disease UK submitted written evidence to back in September 2009.
Although the response has been overshadowed to a certain extent by the Department of Health’s White Paper there were some interesting conclusions to note about commissioning for specialised services including:
- The recognition that there are variations between the specialised services available in different parts of England and that all the services laid out in the Specialised Services National Definition Set should be commissioned by Specialised Commissioning Groups.
- The NHS Commissioning Board will in future commission services set out in the Specialised Services National Definition Set. “This will ensure that patients with rare conditions can be sure of high-quality and cost-effective treatment and are treated equitably with people who have more common conditions”.
- Agreement on the need to strengthen commissioning arrangements for rare conditions
The response can be accessed here.
Campaigns Update
Please remember to participate in our Patients’ and Families’ Experiences of Rare Disease survey
We have had a fantastic response to the Rare Disease UK survey of Patients’ and Families’ Experiences of Rare Disease. A big thanks to all of you who have participated or helped circulate it by putting it on your website, sending it to your members, informing your patients, including it in your newsletter etc.
If you haven’t responded to the survey yet, please do. The more responses we receive the greater the impact the survey will have. Remember the deadline is the 31st July.
The link to the survey is: http://www.surveymonkey.com/s/rdukpatientsurvey
For more information about the survey, please click here.
All Party Parliamentary Group on Rare Diseases
You may recall that Rare Disease UK will be providing the secretariat to the All Party Parliamentary Group (APPG) on Rare Diseases.
The deadline to re-register the Group was the 13th July and unfortunately we were not able to meet this as we were unable to find the sufficient number of qualifying members in the short space of time. Like many existing APPGs the Group’s membership was affected heavily by the substantial turnover of MPs in the May election. Also, many former members were given ministerial positions and as a result are not able to sit on APPGs.
Another piece of disappointing news is that Anne Begg MP who had agreed to chair the Group has been forced to stand down due to increased work commitments after being appointed the Chair of the Work and Pensions Select Committee. Anne remains supportive and will continue to be a Vice-Chair to the APPG on Rare Diseases. This does, however, mean the Group is currently without a chair.
It is not all bad news however! We are only two Conservative or Lib Dem MPs or Peers short of gaining the necessary amount of qualifying members and we would appreciate your help in securing the last two members. If you have a Conservative or Lib Dem MP that is not on the list of members below we would be very grateful if you could write to them to call on them to join the APPG on Rare Diseases. As a constituent you have the greatest influence over your MP.
For a template letter, please click here.
Also, if as an organisation you have had involvement with an MP or a Peer and you think they may be interested in joining, please do write to them or feel free to send suggestions to us and we will contact them.
MPs or Peers who have agreed to join an All Party Parliamentary Group on Rare Diseases.
Conservative
Peter Bottomley MP
Peter Lilley MP
Edward Timpson MP
Stephen Hammond MP
Lord Colwyn
Liberal Democrat
Baroness Thomas of Winchester
John Leech MP
Julian Huppert MP
Labour
Dave Anderson MP
Heidi Alexander MP
Anne Begg MP
Jenny Chapman MP
Tony Lloyd MP
Ian Mearns MP
Jim Dobbin MP
Kevin Barron MP
John McDonnell MP
Others
Mark Durkan MP (SDLP)
Lord Walton of Detchant (Crossbench)
Nigel Dodds MP (DUP)
Baroness Finlay MP (Crossbench)
If you are not sure who your MP is, you can find out at: http://findyourmp.parliament.uk/
We would very much appreciate your help in recruiting members in order to ensure that we can register the Group and for it to begin meeting in the autumn.
Working Groups
The Working Groups are making progress towards the report on a strategy for rare diseases. Over the past month the following Working Groups met:
Prevention and Diagnosis
Patient Care, Information and Support
Co-ordination of Research
Delivering Coordinated Care
The Groups are currently in the process of developing frameworks and recommendations in the relevant subject areas. We hope to add weight to the findings with examples of good (and bad) practice and case studies.
As mentioned earlier, if you would like further information on the Working Groups or if you have examples which could help to inform their report, please do send details to Lauren Limb –
The initial findings of the Working Groups will be going out for consultation in August and we would very much welcome input from all interested parties. More details will follow.
We would like to thank everyone who gave up their time to participate in the recent Working Group meetings.
Our recent activity
Orphanet
RDUK recently visited Orphanet in Manchester to learn more about their work and the services they offer.
Orphanet is an incredibly useful online resource providing information for both healthcare professionals and patients on more than 5000 rare diseases and orphan drugs. It aims to contribute to improved knowledge, diagnosis, care and treatment of patients with a rare condition. The portal can be accessed at www.orpha.net and contains:
- An inventory of rare diseases
- An inventory of orphan drugs
- Details of specialised clinics, medical laboratories and patient organisations related to each disease
- Details of research projects, clinical trials and registries relevant to each disease
- A poly-hierarchical disease classification system
- A search by clinical sign facility
- Reports on issues in rare diseases
- Bi-monthly newsletters on important developments and new initiatives in the field
If you are a patient organisation we suggest you take a moment to ensure your up-to-date details are available on Orphanet. If they are not, please contact Idoia Gomez-Paramio, Orphanet UK and Ireland project manager at
We advise healthcare professionals to bear Orphanet in mind when looking for details on a rare condition. All articles are expert-authored, peer-reviewed and continually updated making it a very reliable source of information.
We will be highlighting Orphanet as an example of good practice in our report on a strategy for rare diseases which will be launched on Rare Disease Day next year (28th February).
Please circulate details of Orphanet to anyone you think may find them useful.
Should you have any questions on Orphanet, please contact Idoia at the email address above.
Launch of the TREAT-NMD Standards of Care for Duchenne Muscular Dystrophy
In June we attended the launch of the new Standards of Care for Duchenne muscular dystrophy (DMD) at the Royal Society of Medicine.
A major international consensus document setting out best practice in care for Duchenne muscular dystrophy (DMD) was published in the Lancet Neurology journal in January and February 2010. The product of an extensive review process by 84 international experts in DMD diagnosis and care, this document is a unique guide to expert recommendations on the care that all individuals with DMD should receive.
TREAT-NMD has also worked with patient groups to create family-friendly versions in multiple languages for dissemination in printed form and online to patients and families worldwide.
The Standards of Care are available here.
TREAT-NMD is a network of excellence for rare inherited neuromuscular diseases. It was formed as an EU project in 2007. The network brings together clinical and research centres in the neuromuscular field with industrial and patient advocacy partners. It provides infrastructure to support the development of new therapies, provide training and education and disseminate best practice.
The Standards of Care and the work of the TREAT-NMD is being used to inform our Working Groups looking into a strategy for rare diseases.
If you have any examples of good practice (or bad practice) that you think lessons can be learnt from or should be highlighted in our report, please contact Lauren Limb –
Genetic Alliance UK Annual Conference
The Genetic Alliance UK Annual Conference took place in Canary Wharf, London and was hosted by Clifford Chance.
The conference saw the official launch of Genetic Alliance UK’s new name and branding (formerly Genetic Interest Group).
Above: Genetic Alliance UK's new logo and tagline.
The conference looked at how patients are involved as partners in a variety of areas including:
- Campaigning
- Research
- Insurance
- Healthcare
The afternoon of the conference was dedicated to workshops looking at some of the things a strategy for rare diseases should address and examples of how this can be done. We are very grateful to all who participated in the workshops and the findings will be used as evidence for Rare Disease UK’s report into a strategy for rare diseases.
For more information about Genetic Alliance UK please see the website or contact Melissa Hiller –
Westminster
We met with Anne Begg MP to discuss the All Party Parliamentary Group on Rare Diseases. Ms Begg also gave us some helpful advice on the campaign and we are grateful for her support.
The Chair of RDUK, Alastair Kent, met with Dr Julian Huppert MP. Dr Huppert is very supportive of the campaign and has agreed to join and be a Vice-Chair to the All Party Parliamentary Group on Rare Diseases.
We met with Jim Cunningham, MP for South Coventry. Mr Cunningham is supportive of the need for a strategy for rare diseases and would like to assist where he can.
Scotland
We met with Liz Porterfield, Head of Strategy and Planning in the Scottish Government and her colleague Rebecca Lowe to discuss progress in Scotland on implementing the European Council Recommendation and how we can work with them to build on some of the good work in Scotland to facilitate access to good quality, integrated care and support for patients and families with rare diseases.
Wales
We met with Dr Stephen Jolles, Clinical Immunologist at the University Hospital Wales, Cardiff to discuss the new arrangements for commissioning specialised services in Wales.
We sent submissions to each of the main political parties in Wales to try and get a commitment to developing a strategy for rare diseases in the party manifestos for the May 2011 Welsh Assembly elections.
We met with Dr Chris Riley, the Welsh Assembly Government’s Head of Health and Social Services Strategy and his team member, Irene Wasileska. The purpose of the meeting was to keep the Welsh Assembly Government updated on our activity and to discuss the progress in Wales towards implementing the Council Recommendation.
Northern Ireland
We had a stand at the Ability NI Disability Exhibition 2010 which took place in Lisburn. The exhibition is Northern Ireland’s largest disability exhibition.
We had a positive meeting with Joe Magee, Head of the Cancer, Diagnostics and Specialist Drugs Unit of the Northern Ireland Executive and his colleague Daniel Kelly to discuss progress on implementing the Council Recommendation on an action in the field of rare diseases, some of the issues that a strategy for rare diseases should address and how this can be done. We look forward to working with the Northern Ireland Executive to develop an effective strategy.
At Stormont we met with Michelle O’Neill MLA, who is Sinn Fein’s spokesperson on disability and the deputy chair of the Health Committee. We are grateful to Dr Colin Harper - Disability Action NI, Aoife Bradley – Lead Genetic Counsellor, Belfast City Hospital, and Sandra Campbell – PSP Association for attending the meeting to discuss their perspectives on services for rare disease patients. As a result of the meeting, Ms O’Neill took the issue back to the Health Committee, and a submission was made to Michael McGimpsey, the Minister for Health, Social Services and Public Safety. We will of course keep you informed of the Minister’s response.
Additional activity
We met with Sophie Broster-James from the Medical Research Council to inform her of our campaign and to discuss how we could work with them to ensure a strategy for rare diseases facilitates research.
We started planning a joint workshop with the Association of Medical Research Charities (AMRC) on research into rare diseases. We are hoping to hold the workshop in late November/beginning of December and we will be in touch with more details.
We attended a day on “Understanding Alström Syndrome” at Birmingham Children’s Hospital. The course was written and developed by HearFirst on behalf of the Alström Syndrome UK Support Group and provided a good opportunity to learn more about Alström Syndrome as well as some of the needs of people affected by the condition.
We met with Nigel Gaymond, Chief Executive of the BioIndustry Association and his colleague Joe Wildy to discuss the campaign. The BIA are very supportive and are happy to help where they can.
We attended the International Conference on Behçet’s Disease which was held in London. For more information on Behçet’s Disease, please see the website of the UK support group, the Behçet’s Syndrome Society.
Melissa Hiller from RDUK spoke at the European Alpha1 Congress in London which was organised by Alpha1 Awareness UK.
We met with Henry Featherstone, Head of the Health Unit at the Policy Exchange. The Policy Exchange is a leading think-tank particularly interested in free-market and localist solutions to public policy questions. The meeting came about as a result of a recent report conducted by the Policy Exchange entitled “Which doctor: putting patients in control of primary care”. The report highlights amongst other issues, that current commissioning arrangements fail to meet the needs of patients with rare diseases. We were pleased to secure the support from the Policy Exchange and we hope to be able to work with them to highlight the importance of providing effective services for patients with rare diseases.
We attended the Patients Involved in NICE meeting where the Chief Executive of NICE, Sir Andrew Dillon, attended to discuss how NICE can engage more effectively with patient organisations.
Other news
Some of our members and partners have asked me to bring the following news to your attention.
Mal de Debarquement Syndrome Awareness Month
June was Mal de Debarquement Syndrome (or MdDS) Awareness Month. The MdDS Balance Disorder Foundation in America is always looking for new, fun, novel ways to raise awareness so they recorded a song which can be listened to and viewed here.
Jane Houghton, who has set up a UK website (http://www.mdds.org.uk/) on the condition has asked me to include the following message:
“The song is meant to be a fun/novel/new way of raising awareness and there is no intention whatsoever to insult/offend or belittle MdDS (disclaimer part here!) After viewing please forward it to everyone you know. It's in a good cause! We need to educate the world to this condition.”
Naomi Long MP becomes patron of The Cavan Tommy Hoey Trust
We are delighted to announce that Naomi Long MP has agreed to become a patron for the Cavan Tommy Hoey Trust. Ms Long has been very supportive to the Trust including hosting an event at Belfast City Hall to mark Rare Disease Day this year, which RDUK also attended. The Alliance MP recently became a high profile figure in Northern Ireland after she unseated Peter Robinson, First Minister in the Northern Ireland Assembly to become the Alliance Party’s first MP at Westminster. RDUK is pleased that Ms Long is supporting the Trust to raise awareness of X-linked lymphoproliferative (XLP) syndrome, Hemophagocytic lymphohistiocytosis (HLH) and rare diseases generally.
The Children’s Foreword; An Educational Framework for AHPs working with children and young people
The Scottish Government Long Term Conditions Unit has asked me to draw your attention to the following flyer regarding a consultation on allied health professionals for children and young people.
The flyer is available here.
Or you can access the consultation document at: http://www.knowledge.scot.nhs.uk/child-services/discussions/ahp-cyp-network-consultation-on-thechildren%27s-foreword.aspx
The closing date for the consultation is the 1st October 2010
Help Keep BioNews Free!
Our members, the Progress Educational Trust are committed to keeping BioNews free for all. BioNews is an important resource for many, not just experts, but medical ethics students, fertility nurses and patients and families with a rare genetic disease to have accurate and balanced information on the latest scientific, legal and policy developments freely available.
So if you have not yet done so, please complete the latest BioNews survey. This way, you not only help to keep BioNews free, but you also help to influence its content by letting us know what subjects you would like to see covered and how.
The survey takes less than 5 minutes and can be completed here.
If you have not yet signed up to BioNews, you can do so on their website: http://www.bionews.org.uk/
The European Medicines Agency Launches New User-Friendly Website
The European Medicines Agency has just launched a new, user-focused, interactive website. The website which will continue to be accessible at the same address http://www.ema.europa.eu - has been redesigned in direct response to the Agency's research into the types of features and functionality users would like to see.
New features include:
* Quick medicine searches: Allows you to search for human and veterinary medicines by name and active substance and for herbal medicinal substances by name.
* An online library: Enables you to search for all Agency documents currently online through a search on title and date published online.
* Improved navigation: More intuitive labelling and improved organisation of content so that browsing is quicker for all audience groups.
* Audience landing pages: Flags information of specific value to different key users.
* Online calendar and news search: Allows you to keep up to date with the latest news and events at the Agency.
* RSS feeds: Brings information straight to you as soon as it is published online.
Royal College of Nursing Launches New Campaign: Frontline First
Rare Disease UK supported the recent campaign by the Royal College of Nursing (RCN) to highlight the importance of specialist nurses.
The RCN’s latest campaign, Frontline First will give nursing staff the power to tell them about the cuts that they see affecting patient care, the waste in the system that is diverting resources from the frontline and the innovations and new ideas that are helping to deliver cost effective high quality care.
In order for Frontline First to be effective, they need your support. You know, perhaps better than anyone, the power and importance of excellent nursing care. The RCN is asking for your organisation to use whatever channels are at your disposal to highlight the campaign to your supporters, members and nurses.
The campaign website launched on the 7th July (www.rcn.org.uk/frontlinefirst) and will be the primary channel for information and engagement.
If you have any news that you would like included in the next newsletter, please contact Stephen Nutt –
EUROPLAN Conference
16th November, Nowgen Centre, Manchester
If you haven’t already registered for our EUROPLAN Conference please make sure you do!
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.
Attendance at the conference is free and lunch will be provided
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 the EUROPLAN initiative, please visit the EUROPLAN website.
Some of our members/supporters have asked me to include some events that may be of interest:
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. *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:
If you have any upcoming event that you would like us to publicise, please contact Stephen Nutt at
New members
We are delighted to welcome the latest partners to the campaign for a strategy for rare diseases.
Breathe On UK – Breathe On UK is a national charity dedicated to supporting the families and carers of young people who are life-dependent on mechanical breathing, or long term ventilation (LTV).
Children’s Mitochondrial Disease Network – The Children's Mitochondrial Disease Network, provides information and support for all mitochondrial disorders, while raising much needed awareness about mitochondrial / metabolic disorders, via networking with both parents and professionals, via their website and the online community.
Help the Hospices – Help the Hospices is the leading charity supporting hospice care throughout the UK. They aim to support members and other organisations as they strive to grow and improve end of life care throughout the UK and across the world.
Lymphangiomatosis & Gorham's Disease Alliance Europe - The mission of the LGD Alliance is to improve the care of patients with lymphangiomatosis and Gorham's disease by promoting research that will identify effective treatments and ultimately a cure for these diseases.
Proteus Family Network UK – The Network aims to preserve and protect the health and promote the welfare of persons affected by Proteus Syndrome and associated conditions; to advance the education of the medical profession and the general public; and to support research into the management of Proteus Syndrome and associated conditions.
Best wishes,
Stephen - Rare Disease UK Secretariat
020 7704 3141
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