Rare Disease UK - Monthly Update - November 2009

Dear RDUK member,

Here at RDUK we're struggling to believe that it's December already! November was another busy month and here is an overview of some of our activities.

Rare Disease UK's first anniversary

November was a milestone for RDUK as it marked our first anniversary!

RDUK was established in November 2008 in response to the European Commission's Communication on rare diseases: Europe's challenges. We subsequently campaigned for the adoption of the Council of the European Union's Recommendation on an action in the field of rare diseases which was adopted unanimously by all 27 EU member states in June. The Recommendation calls on member states to elaborate plans or strategies to deal with rare diseases. We are campaigning for the implementation of a strategy for integrated service delivery for rare diseases to ensure quality care and the efficient use of limited NHS resources and scarce expertise.

As well as the adoption of the Council Recommendation, Rare Disease UK's achievements to date include:
. We have developed links with key officials in all four governments and NHSs of the UK
. We have the support of a broad range of stakeholders including over 90 patient organisations, pharmaceutical companies, clinicians, academics and individuals
. We have established five Working Groups comprising of experts from a variety of fields to investigate various aspects of a strategy for rare diseases  
. We have provided a single voice to drive forward a strategy for rare diseases

To mark the occasion we sent a communication to all MPs, MSPs, AMs and MLAs and a separate communication to those who have been supportive of us to date.

With your help we will build on the achievements of the past year to ensure that in future the needs of people with rare diseases and their families are no longer forgotten, they do not have to struggle to access adequate and timely care and that NHS resources for people with rare diseases are no longer used in an inefficient and ineffective manner.

Thank you for your support over the past year.

Rare Disease Day 2010

Preparations are still underway for Rare Disease Day 2010.

As a reminder we are holding parliamentary receptions on the following dates - please note these events are invite only and only those registered to attend will be able to pass security so please contact me if you/your organisation are interested in attending.

Welsh Assembly - the Senedd, February 24th
Scottish Parliament - Holyrood, March 2nd
Northern Ireland Assembly - Stormont, March 4th

We are not holding a reception at Westminster this year as we are aware that the timing is likely to coincide with the general election campaign and we suspect that thoughts may be elsewhere. We will, however, be holding a reception in the autumn which will be a good opportunity to bring our campaign to the attention of new MPs as well as our supporters.

Case Studies

A big thank you to those who have agreed to be case studies to generate media coverage for Rare Disease Day. We have had an excellent response and many moving and inspirational stories. The PR agency we are working with has been busy contacting magazines to drum up interest.

If you would like to send us your story but haven't as of yet - it is not too late as we are targeting various media outlets, some of which require shorter lead times.

I have attached the case study forms (please see "Attachments" on left hand side of this page).

RDUK Working Groups

The aim of the Working Groups is to aid a strategy for rare diseases in the UK by examining the issues involved in providing and accessing services for rare diseases and to come up with a set of criteria that an effective integrated service would have to meet. Each Working Group comprises of expert stakeholders in a wide range of fields including clinicians, academics, researchers, commissioners, patient representatives and industry.

The Working Groups on Delivering Co-ordinating Care and the Working Group on Patient Care and Information both had their first meetings during November. The Groups set out the issues that need to be addressed and discussed how the Groups will move forward.

All of the notes from the Working Group meetings will be made available on the website after all Groups have had their first meeting. The Working Group on Prevention and Diagnosis is the last to meet on the 10th December.

We are very grateful to Dr Atul Mehta, Consultant Haematologist at the Royal Free Hospital, Andrew Wilson-Webb of the Rarer Cancers Forum and Lesley Greene of Climb and Eurordis for chairing the meetings and to all of the expert members for giving up their time to contribute.

November's activities

Some of our activities during November included:

. We met with Lorenzo Lorenzoni from mondoBIOTECH, a Swiss research company that deals exclusively in rare diseases. mondoBIOTECH is focused on the continuous discovery of medicinal product candidates, by redirecting already known peptides and other immuno-modulating substances for the use of treatment of rare and neglected diseases, with the aim of licensing-out them to third parties. We discussed each other's work and how we might be able to work together.

. Melissa and Stephen met with other European rare disease alliances at the Council of National Alliances meeting in Paris. Top of the agenda was organising the Europlan conferences  which is an initiative co-funded by the European Commission looking into how the Commission's Communication and the Council Recommendation are being implemented by member states. Rare Disease UK will be organising the Europlan conference in the UK. We also discussed the plans for Rare Disease Day 2010.

. Alastair took part in the National Commissioning Group's Workshop on developing an ethical framework for specialised commissioning.

. Alastair met with Clare Brassington, Director of Screening and Specialised Services and members of her team at the Department of Health in Leeds. The meeting was very positive and it was agreed that a meeting of all four health ministries should be arranged to discuss how to take the Council Recommendation forward.

. Buddug gave a talk on RDUK at the All-Wales Immunodeficiency Patient Evening in Cardiff.

. We met with Catherine Foot, Senior Policy Fellow at the King's Fund to introduce her to the campaign and to discuss ways that the King's Fund and RDUK can work together.

. We met with Helen Rainbow, Policy Analyst at Macmillan Cancer Support to discuss issues surrounding access to treatment for rare diseases and rare cancers and the work of both organisations around this.

. Melissa gave a presentation on RDUK to the UK Primary Immunodeficiency Network Forum 2009 in Bath.

New members

During November an amazing 14 new organisations joined Rare Disease UK!

The International Brain Tumour Alliance - The IBTA seeks to be an alliance of the support, advocacy and information groups for brain tumour patients and carers in different countries and also includes researchers, scientists, clinicians and allied health professionals who work in the area of brain tumours.

Niamh's Journey - was set up in memory of Niamh who was diagnosed with a rare and debilitating epilepsy syndrome called MPEI (Migrating Partial Epilepsy of Infancy). The organisation was set up to support other children and families who are going through similar experiences.

The Lily Foundation - The Lily Foundation is a charity raising funds for research into Mitochondrial and metabolic disorders and was set up in memory of Lily Anna Merritt.

The British Liver Trust - The British Liver Trust is the national charity working to reduce the impact of liver disease in the UK through support, information and research.

Alpha1 Awareness UK - the only registered UK Charity supporting people with the genetic condition Alpha 1 Antitrypsin Deficiency.

Stuart Strange Vasculitis Trust - the only UK based National Organisation offering support to those suffering from vasculitic diseases. They also support research into causes of and treatment for vasculitis.

XP Support Group - aims to relieve the needs of persons with Xeroderma Pigmentosum and other related conditions and their families. The Group raises funds for research, gives grants for UV protective equipment and products and assists families to attend night time camps in the UK, USA, France & Germany or respite in a protective environment.

Cavernoma Alliance - is a charity created by people affected by cavernoma otherwise known as cerebral cavernous malformations or cavernous angioma. Their mission is to improve the quality of life for those affected by cavernomas through education, support, and promotion of research.

CGD Research Trust - The CGD Research Trust is funding vital state of the art research into the treatment of genetic disorders. The charity also provides support to families, and information to anyone with an interest in CGD.

Myasthenia Gravis Association - The Myasthenia Gravis Association offers support to Myasthenics and their families, increasing public and medical awareness and raising funds for research, education and patient care.

STEPS - STEPS is a small national charity supporting children and adults affected by a lower limb conditions such as clubfoot or hip conditions.

The Brittle Bone Society - The Brittle Bone Society is the only UK wide organisation providing support to people affected by the rare bone condition Osteogenesis Imperfecta (OI).

National Genetics Reference Laboratory - Manchester - provides dedicated support to UK genetics testing centres in collaboration with NGRL Wessex. Funded by the Department of Health, the work programme includes informatics, technology assessment and quality assurance. Their aim is to bring new technologies into diagnostic genetics services to the benefit of NHS patients.

The Spinal Cord Tumour Forum - Provides a website for people in the UK who have had, or whose lives have been affected by, benign spinal cord tumours.

Publications

The Orphan Disease Industry Group recently commissioned a review by the Office of Health Economics into access to Orphan Drugs in selected European Countries. I have attached a copy of the report to this newsletter.

If you have any questions on any of these matters, please do not hesitate to contact me.

Thank you for your continued support,

Stephen Nutt - RDUK Secretariat

stephenraredisease.org.uk
02077043141