Rare Disease UK - Newsletter April 2010
Contents
Please click on the headings to skip to:
- EMA statement on unregulated stem cell therapies
- Rare Kidney Disease Strategy
- Breathtakers
- British Society for Immunology
- Make a Wish Foundation UK
- Oxfordshire Vasculitis Support Group
- Fighting Against Blindness (FAB)
- Charcot Marie Tooth UK
- AMEND
Dear RDUK member,
Over the past month we have mainly been focused on the general election, which as I’m sure you’re all very aware is taking place today. In order to bring the issue of rare diseases to the attention of potential MPs ahead of them being elected we launched our prospective parliamentary candidate contact campaign – thank you to all of you who have emailed/wrote to your PPCs - please remember that it would be helpful to see their response if you received one. We will be following these up after the election and we hope that you will help raise the issue to your new MPs after they have been elected (yes another contact campaign!) It is crucial that at this time we communicate the need for a strategy for rare diseases in order to get the support of MPs to put political pressure on the government. The most effective way to do this is by constituents contacting their MP.
At RDUK, we have also written to all PPCs with an identifiable interest in health to introduce them to some of the issues affecting people with a rare disease and the European Council’s Recommendation on an action in the field of rare diseases, which calls on member states to implement plans or strategies for rare diseases. The UK government signed up to this in June 2009 and we need to ensure a meaningful strategy is implemented.
This election is likely to see the biggest turnover of MPs since 1945 due to various factors including a likely change in governing party, the expenses scandal and a high number of retirements. This means that we will be losing many of the current MPs with expertise in the field of health and it does not appear that as many of the new breed of MPs will have the same level of interest and knowledge. However, we can turn this into an opportunity to gain new support in parliament.
We have also been discussing the strategy of the All Party Parliamentary Group on Rare Diseases. We are hoping to re-establish the APPG in the new parliament and we would appreciate your assistance in ensuring we secure the required number of MPs. We envisage the group being more active in the new parliament to help add pressure for improvements to services for people with rare diseases.
We will be in touch following the election with details on how you can help by contacting new MPs.
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We attended and had a stand at the Sickle Cell: The Next 100 Years conference at De Montfort University in Leicester.
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We also had a stand at the Association of Genetic Nurses and Counsellors Annual Conference at St George’s Hospital.
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Dates for all the next Working Group meetings have been arranged and Lauren has been working on gathering evidence to support the issues flagged up by the Working Groups.
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We have been organising the GIG Annual Conference which will have workshops in the afternoon on a strategy for rare diseases and the Europlan conference on a strategy for rare diseases. More details below
Media volunteers for undiagnosed conditions. Can you help?
As undiagnosed conditions are by their nature frequently rare conditions members may be interested in the following:
The Genetic Interest Group has securing funding from the Jeans for Genes Appeal to ask families affected by undiagnosed conditions to identify their priorities for the future work of the charity Syndromes Without a Name (SWAN).
Syndromes without a Name (SWAN)
The support group Syndromes Without a Name (SWAN) was formed in 1999 by the grandmother of a child with severe developmental delays, but no diagnosis for her condition. The group now has over 1300 members across the UK. The group's founder has recently been advised to give up her role co-ordinating SWAN because of health problems. As most SWAN members are parents of children with severe disabilities, there is no-one able to take over the running of SWAN and as it has minimal resources, the group is facing closure.
What will GIG do with the grant?
GIG has a small piece of funding from Jeans for Genes. The grant will enable GIG to carry out a detailed survey of the over 1000 families who are members of SWAN and also some face to face interviews with families to find out how SWAN can best support their needs. This information will be fed into a larger grant application which will be ready for September this year to ensure the larger application is successful and that SWAN can continue with a Coordinator helping families around the UK.
Can you help?
As the Genetic Interest Group will be one of the charities benefiting from the Jeans for Genes Appeal in 2010 they are very keen to work with families affected by undiagnosed conditions who would be happy to be case studies. This would involve telling GIG a little bit about your family and your experiences of living with an undiagnosed condition. This information would be used so that GIG can help raise awareness of the one day appeal, through magazines, newspapers, radio etc. All media work would be voluntary and there would be support provided by GIG and Jeans for Genes in the lead up to the day. Some case studies will also feature in the Jeans for Genes printed schools material and appear on their website too.
If you and your family are interested in becoming a case study to help raise awareness of Jeans for Genes Day 2010 please do not hesitate to contact my colleague Melissa Hillier on or 020 7704 3141
Other News
European Medicines Agency statement on unregulated stem cell therapies
The European Medicines Agency would like us to drawn your attention to a statement about unregulated stem cell therapies drafted by the Committee for Advanced Therapies (CAT). The statement outlines the Agency’s concerns that unregulated stem-cell medicinal products are being offered to patients, for the treatment of a wide range of serious and life-threatening diseases. The statement is available here
Strategy for Rare Kidney Diseases
Our members the Renal Association and the British Association for Paediatric Nephrology have developed a strategy for patients with rare kidney diseases. It contains a vision for improving standards of care and equality of access, and indicates how they intend to respond to the challenge. A special aspect of the strategy is the integration of clinical care pathways, diagnostic services, disease registers, translational research and audit. Central too is the participation and empowerment of patients at all of these levels. The strategy will help to inform the Rare Disease UK Working Groups and we were pleased to be involved in the consultation phase of the strategy.
You can view the strategy online by clicking here.
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:
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. We 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, 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: for further information.
New Members
We are delighted to welcome the latest partners in the campaign for a strategy for rare diseases:
Breathtakers
Breathtakers is a registered charity offering support for children with rare lung disease, specifically Obliterative Bronchiolitis. Visit the website.
British Society for Immunology
The BSI is one of the oldest, largest, and most active, Immunology societies in the world and is the largest in Europe. Members work throughout the entire Immunology chain, stretching from the laboratory bench right through to the clinics and hospitals in which patients are treated. As well as representing its members, the BSI publishes two academic journals, Immunology and Clinical & Experimental Immunology. The journals enable the society to disseminate research and good practice in Immunology and translational medicine and vaccination. Visit the website.
Make a Wish Foundation UK
Make-A-Wish grants magical wishes to children and young people fighting life-threatening illnesses. At any given time, over 20,000 children in the UK are living with life-threatening conditions. In 2010, around 1,000 children will turn to us to have their special wish granted. Visit the website.
Oxfordshire Vasculitis Support Group
Offers support to people with vasculitis in the Oxfordshire region. For more information, please contact Sue Ashdown at
Fighting Against Blindess (FAB)
FAB is a charity working in Cambridgeshire, East Anglia and London to support and help find a cure for people with the hereditary eye disease Retinitis Pigmentosa. Visit the website.
Charcot Marie Tooth UK (CMT UK)
The aim of CMT UK is to offer assistance and support to those people who have Charcot-Marie-Tooth Disease, also known as Hereditary Motor and Sensory Neuropathy or Peroneal Muscular Atrophy. They also seek to promote research into the means by which CMT may be prevented and treated and to circulate the results of such research for the benefit of the public. Visit the website.
Association for Multiple Endocrine Neoplasia Disorders (AMEND)
AMEND aims to improve the well- being of all persons affected by MEN by providing support to patients and their families and friends; providing information about MEN and other relevant issues relating to genetic disorders, promoting a wider knowledge of MEN among the medical profession to assist in early and accurate diagnosis, and assisting in future MEN research. 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
020 7704 3141
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