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"Working together we can secure the best use of scarce expertise and resources, maximising the health gain for all those with rare conditions" Alastair Kent OBE, Chair of RDUK


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Rare Disease Day 2011 - Welsh Assembly Reception

On 16th March, a group of over 100 people from a diverse range of backgrounds, all with an interest in rare diseases, gathered at Senedd, Cardiff for a lunchtime reception to mark Rare Disease Day at the Welsh Assembly and to officially launch the Rare Disease UK (RDUK) report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy.

Guests were able to meet with over 20 Assembly Members (AMs) who also attended the event including Christopher Franks, Rosemary Butler, John Griffiths, Veronica German, Mark Isherwood and Dai Lloyd, enabling them to raise awareness of rare diseases and the issues associated with working in this area or living with a rare condition.

After networking, guests were welcomed by Darren Millar AM, Chair of the Assembly’s Health, Wellbeing and Local Government Committee. Darren Millar AM recognised the scale of the issue of rare diseases and the fact that they affect over 175,000 people in Wales. He was encouraged by the attendance of a wide range of people at the reception and said how important Rare Disease Day is in raising awareness. Darren told us about the theme for this year’s Rare Disease Day – ‘Rare but Equal’ and referenced RDUK’s report Experiences of Rare Diseases: An Insight from Patients and Families which highlighted the gaps in healthcare provision for rare disease patients. He made a plea to his fellow AMs to play their part in ensuring rare disease patients get equitable access to healthcare services and don’t ‘fall off the radar’.

 Darren Milllar AM addresses the audience

Next we heard from Professor Anne Rosser, Professor of Clinical Neuroscience and Honorary Consultant Neurologist at the University Hospital of Wales, Cardiff. She is also joint Director of Cardiff University's Brain Repair Group and has worked in the area of neurodegeneration since 1994. Professor Rosser now leads the South Wales Huntington’s Disease (HD) clinical service. This service provides care for HD patients at all stages of the illness and supports clinical research activities ranging from observational to interventional clinical studies.

Professor Rosser is the current Chair of the UK HD network. She told us that she is involved in research to develop a treatment for HD and that to do this firstly you must have a detailed understanding of the condition. She explained that this level of knowledge can only come from collaboration between researchers, doctors, patients and carers, and in the case of rare diseases, this knowledge can’t be collected regionally but instead requires collaboration and engagement across the UK. The need for this level of collaboration was the reason behind the establishment of the UK HD Network, which has already led to better understanding and problem solving in this field. Professor Rosser told us that in 2005, the European HD Network was developed which brings together HD networks across the EU and now has about 6000 patients involved. She explained that although there is still a lot of work to do, with this level of collaboration, she is hopeful that there will eventually be a treatment developed for this condition.

Our next speaker was Sarah Graves who gave us an account of her experience of living with Behcet’s disease. She first told us a bit about Behcet’s which is a chronic, rare condition affecting approximately 1000 people in the UK and which leads to unwanted inflammation causing mouth and genital ulcers, skin lesions , eye problems, chronic fatigue, joint pain and gastrointestinal problems. She explained that for most of the time Behcet’s patients feel as though they are recovering from flu. Sarah explained how her life changed in 2007, aged 27, when she first started experiencing symptoms of Behcet’s. She had been happily living her life which ‘changed overnight’ and led to her being unable to return to work and meeting countless doctors trying to get a diagnosis. She described how frightening it was not knowing what was wrong with her and with doctors not believing her or refusing to treat her symptoms. She said how lucky she was to have a dedicated GP who believed her and fought hard to get referrals, finally resulting in a diagnosis of Behcet’s.

Cardiff attendees

Sarah highlighted how frustrating it was having to re-explain the condition to all of the many professionals she met, and how there have been many social implications of the condition including having to give up her job and her flat. She went on to describe the ‘turning point’ in her condition when she luckily got a referral to a doctor in London who had experience of the condition and was able to put together a coordinated care package. She explained how this coordinated care has changed her life, and how it is worth the time and money of travelling to London every three months for the level of care that she receives there. She believes that having coordinated care is paramount for rare disease patients and that it is vitally important that all rare disease patients in Wales are able to access all the high quality services and clinics they need for their condition.

Lastly, Alastair Kent OBE, Chair of RDUK, gave more details on the issue of rare diseases. He told guests that collectively rare diseases are not rare, and they in fact affect 1 in 17 of the population. He said that RDUK had found that most rare disease patients have poor experiences of the health service, in particular in getting a diagnosis, accessing services and getting sufficient information on their condition. He added that there are examples of good practice in Wales, but unfortunately these tend to be the exception rather than the rule.

Alastair introduced RDUK’s report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy, and explained that it sets out RDUK’s recommendations for a national strategy for rare diseases which the UK is committed to developing by 2013. The aim of this report is to inform a strategy to improve the experiences of rare disease patients, setting out 27 broad recommendations and more than 85 specific recommendations to achieve this. Alastair went on to say that some of the recommendations can be implemented quickly and at no great cost, others will take longer, but all of them are achievable and realistic. He added that the report gives examples of excellent practice in Wales such as the Wales Gene Park, the multidisciplinary Rett syndrome clinics, and the availability of home therapy for immunoglobulin treatment, which show that things can be done well. The challenge now is to make it happen for all of those affected by rare diseases. This will require determination, drive and coordination, but it is possible.

He ended by launching the report on behalf of all those who contributed to it, rare disease patients and families, professionals, academics and scientists involved in rare diseases and said that he looks forward to working with politicians and service planners to reduce the unmet patient need.

Alastair Kent, Sarah Graves, Professor Anne Rosser, Darren Millar AM