Rare Disease UK Newsletter - February and March

Dear RDUK member,

Apologies for the lack of newsletter at the beginning of March – we were very busy at it was in the middle of our Rare Disease Day activities which was a great success. Thank you to all those who attended and supported the events.

Here is an update on some our activities over the past couple of months.

Contents

Please click on the headings to skip to:

Rare Disease Day 2010

• Parliamentary Receptions
• Scotland/Wales/Northern Ireland Contact Campaign
• EDM 978 International Rare Disease Day
• Scottish Motion
• Other Rare Disease Day activities
• Media Coverage

Working Groups

Policy News

• CMO's Annual Report
• Strengthening National Commissioning
• Innovation Pass Pilot
• House of Commons Commissioning Inquiry 

Other News

• EPPOSI report

Our Upcoming Events

• Genetic Interest Group Annual Conference 
• Europlan Conference

Other Events

• AMRC's Workshop on Rare Disease Research
• Max Appeal Conference
• Bidshot Patient Day

New Members

Rare Disease Day 2010 – “Patients and Researchers: Partners for Life”

Rare Disease Day took place on the 28th February. This was the third time the annual event has been marked and what began as a European initiative has grown to become an international event.

We marked Rare Disease Day 2010 with receptions at the Scottish Parliament, the Welsh Assembly and, for the first time, the Northern Ireland Assembly. The receptions brought together different stakeholders with an interest in rare diseases to raise awareness and to demonstrate support for better services for people with rare diseases.

Full reports and photos from each of the events are available on the website. Click on the links below.

Scottish Parliament reception

Welsh Assembly reception

Northern Ireland reception

Scotland/Wales/Northern Ireland Contact campaign

We launched a contact campaign to get our members to contact their elected representatives to ask them to attend the events and to inform them about Rare Disease Day. Thank you to all of you who wrote to your MSPs/AMs/MLAs. Many attendees met their elected representatives at and since the events and took the opportunity to raise some of the issues affecting them.

Even if your elected representative was not able to attend, your letters will have helped raise awareness of Rare Disease Day and rare diseases.

EDM 978 – International Rare Disease Day

Dr Evan Harris MP kindly tabled an Early Day Motion (EDM) for us. An EDM is basically a statement which MPs can sign up to if they support it. The EDM read:

That this House welcomes the third International Rare Disease Day on 28 February 2010; notes that there are over 6,000 rare diseases, affecting approximately 3.5 million people in the UK; supports the focus of this year's Rare Disease Day on the importance of research into rare diseases for the millions of patients without a cure; believes that rare diseases should be seen as a public health priority; and joins Rare Disease UK in calling on the Government to act on its commitment to a strategy for rare diseases as demonstrated by the adoption of the European Council Recommendation on action for rare diseases in June 2009.

We had another contact campaign to get members to write to their MPs to ask them to sign the EDM; thank you to those of you who did.

Thanks largely to your letters 71 MPs signed the EDM, which a very good number is given that MPs were still signing up at the dissolution of parliament. Also, replies to members demonstrated reluctance by Conservative MPs to sign up often citing that they are unable to make “uncosted spending commitments”. Following the election we will work to educate new MPs that a strategy for rare diseases would involve a more effective use of resources rather than a large amount of additional expenditure at a time where the NHS faces cutbacks.

You can see if your MP signed up to the EDM by visiting the following website and searching for EDM 978:
http://edmi.parliament.uk/EDMi/EDMList.aspx

Scottish Motion – International Rare Disease Day

In Scotland, Dr Richard Simpson MSP tabled a motion on our behalf. The motion reads:

That the Parliament welcomes the third International Rare Disease Day on 28 February 2010; notes that there are over 6,000 rare diseases affecting approximately 300,000 people in Scotland; supports the focus of this year’s Rare Disease Day on the importance of research for the majority of rare disease patients who are without adequate treatment or a cure, and joins Rare Disease UK in calling on the Scottish Government to build on the strong research and development base in Scotland to develop a framework to encourage further research and development for rare diseases and develop a strategy and implementation plan for their diagnosis and management.

Thanks to those of you who participated in the contact campaign to get their MSPs to sign up. Currently 35 MPSs have signed the motion which is a great amount and this is 14 more MSPs than signed the motion last year! The motion is still open for signatures so if you live in Scotland and have not contacted your MSP, please do so. Please click here for more information and a template letter.

You can see if your MSP signed up to the motion by visiting the following website and searching for “rare disease” and clicking on the relevant EDM.
http://www.scottish.parliament.uk/business/motionsAndAmendments/motions.htm

Other Rare Disease Day activities

Here are some of the activities to mark Rare Disease Day that our members organised:

The Cavan Tommy Hoey Trust organised a reception to mark Rare Disease Day at Belfast City Hall. The event was hosted by the Lord Mayor and MLA, Naomi Long. Lord Browne MLA was also in attendance.

Rare Disease UK was pleased to attend and speak at the event. Other speakers included Terry Hoey, Cavan’s Grandfather who runs the Cavan Tommy Hoey Trust and Debbie Hoey Cavan’s mother. Cavan has 3 rare conditions – XLP, the Epstein Barr Virus and hemophagocytic lymphohistiocytosis (HLH). The Trust was set up to raise awareness and is raising money to set up a home in Belfast for families who have to travel to undergo long term treatment, as Cavan did when he underwent 10 months of treatment 250 miles from home.

Above: Speakers and some of the attendees with Lord Mayor Naomi Long MLA Left: Melissa from Rare Disease UK speaks

Pupils at Burton End Community Primary School in Haverhill, Suffolk wore red for Rare Disease Day and raised £112.70!

In keeping with the theme of Rare Disease Day, “Patients and Researchers: Partners for life”, The Myotonic Dystrophy Support Group invited researchers from the University of Nottingham to join with some of the Nottingham family members who have Myotonic Dystrophy to have a fish and chip meal together. 12 researchers came along with Professor David Brook to socialise together. A presentation of a cheque for £1400 was made to Professor Brook by Elycia Ormandy in memory of David Roberts from Wales. Another cheque was sent to Professor Darrern Monckton from Glasgow University for £1300 given in memory of John Wilson.

The Royal Hospital for Neuro-Disability organised a presentation of a research project about oral care and Huntington’s disease. The team which carried out the research has also been involved in writing the standard of oral care for HD as part of the European HD network.

If you organised any activities to mark Rare Disease Day 2010, let us know and we'll put it on the website - stephen@raredisease.org.uk

Media coverage around Rare Disease Day

Thank you very much to those of you who sent in their case studies to try and gain media coverage around Rare Disease Day. Between us and other organisations a number of stories about rare diseases appeared in the media.

Newspaper stories

Western Mail (Wales)– 22nd February – Double page spread on Rare Disease Day featuring Chris Humphries and her son James who has Laurence Moon Bardet Biedl Syndrome. Read the full article.

The Sunday Post (Scotland) – 28th February – Story on John Shields and his son who has a rare chromosome disorder. Read the full story.

Wales on Sunday - 28th February - Article about Clare Clements who has Turner Syndrome. Read the text of the article here.

Huddersfield Daily Examiner – 4th March - Story about rare diseases and the Nerve Centre Kirklees, which provides people in Kirklees living with neurological conditional with information, therapies and support. Read the text of the story. 

The Belfast Telegraph – 4th March – Ran a personal story by Jane Hardy to coincide with our event at Stormont. Jane suffers from a rare condition called mucous membrane pemphigoid. Read the full story (in 2 parts) - Part 1, Part 2

The Belfast Telegraph – 5th March – Printed a photo of Cavan Hoey at our Rare Disease Day event at the Northern Ireland Assembly. View here.

The Scottish Sun – 12th March – Story on Arlene Smyth and her daughter Kylie who has Turner Syndrome. Read the full article.

The Sunday Post – 21st March – Kathryn McKerracher and her mum Bonnie. Kathryn was born with a piece of her 18th chromosome missing. They co-founded Chromosome 18 Europe. Read the full article.

Other stories appeared in local newspapers and will be added to the website.

Magazines

Chat magazine featured Helen Carter and Jodie O’Grady from the Niemann Pick Support Group and their children Josh and Hollie. Read the full story.

Stephen’s week leading up to Rare Disease Day was in the “My Week” section of the Third Sector Magazine. Read the full story.

Rea Mattocks, co-founder of the Birdshot Chorioretinopathy Uveitis Society (BUS), featured in Full House magazine. Read the full story.

Radio

Melissa was interviewed on Able Radio – the station for people with a disability and medical conditions.

On the Morning of the Welsh Assembly reception, BBC Radio Wales’ ‘Good Morning Wales’ programme featured Alastair and Clare Clements from the Turner Syndrome Support Society.

Buddug was interviewed on BBC Radio Cymru’s ‘Y Post Cyntaf’ (the Welsh language morning programme) along with Marie James from the Tuberous Sclerosis Society

Stephen was interviewed on Cardiff FM on the morning of the Welsh Assembly reception.

TV

Buddug was interviewed at the Welsh Assembly for the BBC Newyddion (News) on S4C (channel 4 Wales).

Online

Rare Disease Day and Rare Disease UK featured in a story on BBC News Online. Read the full story.

Did your organisation get media coverage around Rare Disease Day? If so, let us know and we'll put it on our website.

Working Groups

In March we were delighted to welcome a new member of staff, Lauren Limb who joins Rare Disease UK from Help the Hospices. Lauren will be responsible for coordinating the Working Groups who are investigating what a strategy for rare diseases in the UK should include and conducting research to add weight to the Working Group report. We will be seeking to gather as much evidence as possible from our members on the state of services for people with rare diseases currently and examples of good practice etc. More details on how you can participate will be sent out in due course, but if you would like to register your interest, please contact Lauren on laurenraredisease.org.uk

In February/March, two of our Working Groups held their second meetings:

The Working Group on Patient Care, Information and Support meeting built upon the issues that were uncovered in the first meeting and agreed on some initial recommendations that the Group would be making. A framework for this section of the report is now under development and the Group will build on and add evidence to this as it proceeds.

The topic for the Working Group on the Coordination of Research was registries/databases – an essential requirement in order to conduct research. The Group discussed their experiences of registries and some of the problems/issues they have encountered in order to think about what recommendations should be made in this area. The next meeting will be on rare disease research networks.

Policy news

Chief Medical Officer’s Annual Report

As we informed you previously, we were delighted that the Chief Medical Officer, Sir Liam Donaldson included a chapter on rare diseases in his 2009 Annual Report. As well as referring to Rare Disease UK and the Genetic Interest Group the report made a number of welcome recommendations, including:

• Strengthening the network of specialist centres for rare diseases
• Ensuring that an adequate number of specialists are trained in rare diseases
• A National Clinical Director to oversee the development of standards and pathways for rare diseases
• National registers to support service planning and delivery
• Strengthen research
• Raising public and professional awareness
• Cross-border collaboration to share information and resources

The full report can be read here.

Strengthening National Commissioning

In February we responded to the Department of Health’s consultation on Strengthening National Commissioning. Our response is available here.

In March, the Department of Health issued their response (available here)

Whilst we are supportive of the aim of strengthening national commissioning and many of our recommendations were taken on board, we remain concerned that some issues including empowerment of the National Specialised Commissioning Group (NSCG) and Primary Care Trust hostility towards national commissioning remain to be addressed.

We will monitor the implementation of the new National Commissioning Advisory Group which will be set up during 2010/11 with commissioning new services and technologies approved by Ministers due to start from April 2011.

Innovation Pass Pilot

In February, we also responded to the Department of Health’s consultation on an Innovation Pass Pilot. Our response is available here.

Whilst we welcome any scheme put in place aimed at facilitating access to new potentially life enhancing therapies and consequently encouraging the development of new innovative products we expressed our disappointment that effectively the scope of the proposed Innovation Pass had been limited to such an extent as to exclude drugs for very rare conditions but potentially all orphan drugs (i.e. drugs for conditions affecting no more than 5 in 10,000 of the general population).

The Department of Health’s response to the consultation is available here.

House of Commons Health Committee Inquiry into Commissioning

In September 2009, we submitted written evidence to the House of Commons Health Select Committee Inquiry into commissioning (available here).

On the 30th March the report was published and it recognised that insufficient progress has been made on implementing the Carter Review of specialised commissioning for rare diseases and conditions. Many Primary Care Trusts remain disengaged from specialised commissioning and the coming period of financial restraint could threaten funding in this area. Rare Disease UK alongside other organisations such as the Specialised Healthcare Alliance (SHCA) will seek to ensure that the importance of specialised commissioning is recognised.

The full report can be viewed here.

Scottish Parliamentary Question

Dr Richard Simpson MSP asked a parliamentary question to the Scottish Government and received the most positive response from the Scottish Government to date! We will continue to campaign for strategy and to ensure that rare diseases stays on the agenda in all four home nations.

S3W-32129 - Richard Simpson (Mid Scotland and Fife) (Lab) (Date Lodged Wednesday, March 03, 2010): To ask the Scottish Executive, in light of the recommendation adopted by the EU Council of Ministers on 9 June 2009 calling on member states to implement plans or strategies for rare diseases, what new steps it is taking to build on the specialist commissioning work already taking place to ensure equity of access and support for patients and families.

Answered by Nicola Sturgeon (Tuesday, March 16, 2010): In light of the European Council Recommendation on an action in the field of Rare Diseases, officials from each of the four UK Health Departments are liaising to explore areas of possible collaboration and progress in the provision of services for people with rare diseases, including in the field of specialist commissioning.

Other News

In October 2009, Rare Disease UK attended the 10th European Platform for Patient Organisations Science and Industry (EPPOSI) Workshop on Partnering for Rare Diseases Therapy Development. EPPOSI is chaired by the Chair of Rare Disease UK, Alastair Kent.

The Workshop, “10 years after the Adoption of the EU Orphan Drug Regulation: Where do we go to?”, addressed the threat to funding for rare disease research, to earlier and timely diagnosis and access to orphan medicines and care due to the economic crisis in Europe.

The full report is now available from the EPPOSI website.

Our upcoming events

Genetic Interest Group Annual Conference – 8th June – Canary Wharf London.

The 2010 GIG conference will focus on important developments in patient partnership in healthcare. The afternoon will be dedicated to Rare Disease UK and will be focussed on gaining views on how services for patients and families with rare diseases can be improved. For more information, please click here.

Europlan Conference – How can we support the development of a national strategy for rare diseases in the UK? – 16th November – Manchester.

The conference hosted by the Genetic Interest Group and Rare Disease UK will discuss ideas and opportunities about how to improve the care, support and information for those living with a rare disease and those who support them. The recommendations developed by the EUROPLAN UK Conference, promoting national strategies and best practices for rare diseases will link with common strategies at a European level. For more information, please click here.

Other Events

Some of our members/supporters have asked me to include some events that may be of interest:

AMRC Workshop on Rare Disorders

21 April 2010, London
 

Why now?

The research world is becoming more concentrated, and researchers are subject to a variety of forces influencing the areas in which they work (from availability of funds to potential impact of research outputs). At the same time, rare disorders are being seen as an important area for policy-makers, and a variety of organisations are now working together to co-ordinate their work and raise the profile of rare disorders.  With this activity also comes a growing imperative to understand and quantify the impact of the research we are funding.

Who are AMRC?

The Association of Medical Research Charities (AMRC) is a membership organisation of 120 leading medical and health research charities in the UK. Working with our member charities and partners, we aim to support the sector’s effectiveness and advance medical research by developing best practice, providing information and guidance, improving public dialogue about research and science, and influencing government. This includes running a programme of workshops open to members and non-members to promote information-sharing across the sector.

The Workshop

This workshop will bring together medical research charities funding research into rare disorders, to examine some of the challenges of supporting good quality research in this area, and share experience on ways of encouraging research in their area.  For more details, see the attached workshop programme.
We aim to
•         explore current collaborative activities and scope out key issues and concerns
•         discuss how rare disorders research can be encouraged in universities
•         examine how charities can demonstrate impact through audit considering methods that have worked successfully in other situations
 
Who should attend?

This workshop would be most useful for Chief Executives or senior staff with responsibility for research working in charities that fund rare disorders.
Cost:
£110 for AMRC member charities
£220 for non-members

To enable smaller funders to participate, we are also offering a special rate of £70 for funders with an annual research expenditure of £250k or less.

Lunch and refreshments are provided

To book: Please request a booking form - T 020 7269 8820 F 020 7269 8821 E trainingamrc.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 – juliemaxappeal.org.uk

Birdshot Chorioretinopathy - Bringing together patients and specialists

London, Saturday 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 to attend the patient day at www.birdshot.org.uk or email: birdshotlive.co.uk for further information.

New Members

We are delighted to welcome the latest partners in the campaign for a strategy for rare diseases:

MND Scotland

MND Scotland exists to help all those affected by Motor Neurone Disease (MND) within Scotland; those living with the disease, their families, carers and those health and social care professionals who contribute to the care of people with MND. Visit the website.

Sarcoidosis Awareness Society (S.A.S.)

S.A.S. is a voluntary organisation that was created by two individuals who suffer the disease. It has been set up to provide much needed support for the sufferers, carers and their family and friends, to help them cope with the day to day emotional pressures that they face within society and coping with the disease itself. Visit the website.

The Association for Spina Bifida Hydrocephalus (ASBAH) 

ASBAH is the leading UK registered charity providing information and advice about spina bifida and hydrocephalus. It is a contact point for any matter relating to hydrocephalus or spina bifida for information or advice. ASBAH works in partnership with a network of independent affiliated Local Associations to share information and promote good practice, and also to deliver a range of high-quality support and specialist services. Visit the website.

Syringomyelia Arnold Chiari Association (SACA)

SACA is a Northern Ireland based charity providing information and local support to the patient and their family. They enable patients and their families to meet others who have the condition. Visit the website.

Guillain-Barré Syndrome Support Group (GBS Support Group) 

The GBS Support Group is a registered charity based in the United Kingdom that offers support and information to those affected by Guillain-Barré syndrome, CIDP and other dysimmune neuropathies throughout Britain and Ireland. Visit the website.

UK Children's Neurological Research Campaign (UKCNRC) 

The aims of UKCNRC are to foster, promote and enable collaborative national research in childhood neurological diseases. They advise and support active as well as prospective researchers along the route from project concept and planning, through regulatory and funding applications, to management, data analysis and publishable outcomes. Visit the website.

MDS UK Patient Support Group 

The Group provides continuous support to MDS patients and their carers, advances public education in all aspects of MDS in the UK, through publications and the internet and promotes and supports scientific research into the treatment and care of MDS patients. Visit the website.

Relapsing Polychondritis Support Group 

The aim of the Group is to offer support and share information about the rare condition relapsing polychondritis. For more information, please contact Anne Coleman at polychondritisUKgooglemail.com

Cameron’s Smile

Cameron’s smile was founded by parents following their son Cameron’s death in October 2008. Its mission is to support the Histiocytosis Research Trust to raise awareness and funds for crucial research into Haemophagocytic Lymphohistiocytosis (HLH). They aim to have leaflets available for newly diagnosed families. Visit the website.

ChILD Lung Foundation UK

ChILD Lung Foundation UK is a new organisation formed to support children and families affected by Children’s’ Interstitial Lung Disease (ChILD). The Foundation has been set up by families affected by ChILD in order to share experiences and knowledge.  Once fully established, the Foundation aims to help children and families by eliminating inconsistency of care by providing support, medical equipment and enabling quality of life experiences for children with ChILD. Visit the website.

Myotonic Dystrophy Support Group (MDSG)

The aim of the MDSG is to offer information and support to people affected by Myotonic Dystrophy. The Group also aims to raise awareness of the disease amongst the general public and the medical profession. Visit the website.

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

stephenraredisease.org.uk

020 7704 3141