Rare Disease UK information

Centres of Excellence for Rare Diseases

Earlier in the year we called on members to take part in our survey looking at Centres of Excellence. We would like to thank all those who took time to fill out the surveys; we were delighted to receive over 400 completed responses.

We are pleased to announce that our report 'Centres of Excellence for Rare Diseases' is now available online.

We know that Centres of Excellence can facilitate access to health and care services, coordinate professional help and minimise the time spent by patients to seek that help. They can provide information and advice to patients and professionals, identifying areas for service improvement in the care pathway. However, there has been little consensus to date as to what criteria have to be met in order to justify the term “Centre of Excellence”.

The aim of this report is to set out a broader understanding of what a Centre of Excellence should be - and identifies criteria by which a clinic can be identified as ‘excellent’.

The report calls on UK health departments and NHS national commissioners to develop a clear definition of what a Centre of Excellence is and calls on the relevant NHS national commissioners in each devolved nation to designate and monitor these centres.

For more information, please contact me, Farhana at ■■■■■■■■■■■■■■■■■■■■■■■■■■ or by replying to this email.

Accessing specialised services and medicines in Wales: Patient Engagement Events 2013

Our parent charity, Genetic Alliance UK, will be holding events across Wales in October for patients and families affected by rare conditions to talk about their experiences of accessing specialised services and medicines. The project was developed after concerns raised by patient organisations over patients in Wales gaining access to specialised services which are provided by centres in England. Patients have also experienced problems in gaining funding for medicines through Individual Patient Funding Requests in Wales. The events will provide an opportunity for patients and families to come together to highlight their experiences and discuss recommendations for improving fair access to services and therapies for patients. Dates, times and venues are listed below:
17th October, 10.30 – 14.00, Maldron Hotel, Cardiff 23rd October,10.30 – 14.00, Dragon Hotel, Swansea 30th October, 10.30 – 14.00, Metropole Hotel, Llandrindod Wells 31st October, 10.30 – 14.00, Ramada Plaza, Wrexham.
Complimentary refreshments including a buffet lunch will be provided. For more information and to register please contact Emma Hughes, ■■■■■■■■■■■■■■■■■■■■■■■■■■■

SWAN UK (Syndromes Without A Name) Information Event at Great Ormond Street Hospital

SWAN UK will be running its first 'Undiagnosed Genetic Conditions Information Event' on the morning of 26th of November at Great Ormond Street Hospital, London.
The event will bring together health professionals and parents and carers of children with undiagnosed genetic conditions to share information, increase awareness of why some children remain undiagnosed, identify the issues this causes for families and identify what support is available. It’s a great opportunity for networking and will also:

  • increase awareness and understanding of undiagnosed genetic conditions, explore why diagnosis can be a lengthy process for some children, and explain why some children remain undiagnosed.

  • provide information about the genetic testing options available for undiagnosed children, both via NHS routes and through research and will examine what the emergence of technologies such as Next Generation Sequencing (NGS) may bring to the management of undiagnosed children.

  • identify the key issues faced by families of children with undiagnosed genetic conditions

The event has been approved by the Federation of the Royal Colleges of Physicians of the United Kingdom for 3 category 1 (external) CPD credits. For more information please contact ■■■■■■■■■■■■■■■■■■■■■■■■■■■■■

EURORDIS photo contest

EURORDIS is inviting anyone with an interest in rare diseases to share their most beautiful and original images.

The contest is an opportunity to communicate visually the many diverse facets of living with a rare disease and participants will have the chance to win some great prizes.

Contest finalists will have their work displayed during the European Conference on Rare Diseases and Orphan Products (ECRD), taking place in Berlin in May 2014.

Even those who are not shutterbugs can participate in the EURORDIS photo contest by voting for their favourite photograph(s). The top favourites will be sent to a jury (composed of the members of the EURORDIS Board of Directors) who will choose three final winners. Prizes include an Apple Ipad, Archos 80 Tablet, and Olympus camera.

For more information, please contact ■■■■■■■■■■■■■■■■■■■■■■■■■ or visit http://www.eurordis.org/photo-contest-2013

UK Strategy for Rare Diseases

As you know RDUK has been campaigning for a UK Strategy for Rare Diseases. An effective strategy for rare diseases would not only improve the quality of services and health outcomes for people with rare diseases, but would also ensure a more efficient use of NHS resources. We have been working on behalf of our members to ensure a UK Strategy reflects the needs of the rare disease community. We met regularly with key policymakers and parliamentarians including one-to-one discussions with UK health ministers to assess the progress on the development of the strategy. We campaigned for greater collaboration between the health departments of all four home nations and also encouraged and facilitated patient engagement in the strategy’s development. We are delighted to announce that we expect the UK Strategy for Rare Diseases to be published in late November 2013.

RDUK will be trying to generate media coverage to raise the profile of the strategy and raise awareness of rare diseases. It helps us to raise awareness if we have patients or family members affected by rare conditions who are willing to tell their story. If you are willing to share your experience, please download the media volunteer form available here. Also if you represent an organisation, please feel free to circulate this more widely.

Please return your completed form, if possible with a picture, to ■■■■■■■■■■■■■■■■■■■■■■■■■■ or by post to Rare Disease UK, Unit 4D Leroy House, 436 Essex Road, London, N1 3QP.

As a patient or carer what are your views on the regulation of medicines – how should we weigh the risks and benefits? And who should do so?

As part of a European research study, our parent charity Genetic Alliance UK and researchers at the University of South Wales want to understand how patients perceive the risks and benefits of medicines. The work is important to ensure that patient views are valued in the regulation of new medicines.

If you are 18 or older, and you are a patient or a carer, you can help us by completing a short online survey. The survey includes questions about your experience with medicines, your view of the risks and benefits associated with medicines, and how you think medicines should be regulated.

The survey is available in several different languages. To complete the survey in English click here.

To complete it in French, Dutch, Spanish, Romanian, German, Italian or Polish click here.

Your individual answers will be confidential, and you will remain anonymous (we do not ask you for your name). We will share the overall survey findings with other patient groups and relevant decision makers, such as regulators. If you require any further information about the research or you would like the survey in a different format, please contact your local patient organisation or one of the researchers at the University of South Wales in the UK.

Families needed for focus group on communicating with your family about inherited genetic conditions

The research project “Talking to Children about inherited genetic conditions” launched on 1st September 2013. The project works collaboratively with families (parents, children and young people) with an inherited genetic condition to develop an intervention that will support families to communicate more effectively with their children (<18 years) about the genetic condition affecting their family and its risks.

They are currently looking for families with an inherited genetic condition to take part in two focus groups to help us develop the intervention that will support families to communicate more effectively with their children. The Focus groups will be held on 16th November and 7th December 2013.

If you would like more information about the research or to express your or your family’s interest in taking part in the focus groups please contact the research team directly via Emma Rowland. Telephone 0207 848 3650

Best wishes,

Farhana Ali

Executive Officer ■■■■■■■■■■■■■■■■■■■■■■■■■■


Thanks Alan! Lots of interesting info. xB