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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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You are here: Home / Rare Disease Day /Rare Disease Day 2010 / Welsh Assembly reception

Welsh Assembly Reception

24th February 2010

A diverse group of one hundred people including families, clinicians, researchers and politicians in Wales came together to mark Rare Disease Day 2010 with a reception at the National Assembly for Wales on Wednesday 24th February.  The event was hosted by Helen Mary Jones AM for Llanelli and the Plaid Spokesperson for Health and Social Services.

Speakers at the event were: Alastair Kent, Chair of Rare Disease UK,  Chris Humphreys from the Laurence Moon Bardet Biedl Society, Prof Julian Sampson, Institute of Medical Genetics at Cardiff University and Dr Tony Jewell the Chief Medical Officer of the Welsh Assembly Government.

There was an extremely encouraging number of Assembly Members in attendance - nearly a third of all AMs came to show their support for Rare Disease Day and to meet their constituents.

A full event report is below or click here to view the event photos.

Event report

 

The host, Helen Mary Jones AM, welcomed all to the Assembly and commented on how she and fellow Members astonished to hear that so many people living in Wales (175,000) are affected by a rare condition.  She highlighted the importance of ensuring people be able access the right health services to meet their needs.

Left: Helen Mary Jones AM

Alastair Kent, Chair of Rare Disease UK spoke next. He emphasised that rare diseases should no longer be ignored due to the misconception that they affect few people, are expensive and incurable. In fact rare diseases affect 1 in 17 people and there are over 6000 rare diseases with more being identified every week. Over 175,000 people in Wales are affected by a rare disease; equivalent to the population of Bridgend and Newport combined.  

Above: Alastair Kent, Chair - Rare Disease UK

Alastair emphasised that if there was a public health issue causing premature death and having a significant impact on the health and quality of life of the population of those towns there would be serious public outcry and there would be serious attempts to address the problem in a systematic way; so why not for rare diseases?


Patients with rare diseases are often the frequent flyers of the NHS although frequently a lack of a proper strategy or integrated approach to care results in patients rattling around the NHS. Lots of money is being spent and RDUK is calling for it to be spend more effectively – working smarter. Alastair continued, if something can be done it should be in a timely and user friendly way.


The founding principle of NHS is equity. RDUK is calling on all four NHSs in UK to respond to the legitimate expectation of rare disease patients to be able to access high quality services that reflect current scientific knowledge. Also the NHS should recognise the need for systematically creating frameworks for high quality research is crucial to ensure that rare conditions currently without a cure don’t remain so.

 

Above: Chris Humphries addresses the audience

Chris Humphreys talked about her experiences as both a mum of a young man with a rare condition and as national coordinator for the Laurence Moon Bardet Biedl Society.  The Society has grown to provide support for over 200 members which is an important network for them. Over the years, the Society has been instrumental in pushing forward knowledge and understanding of the condition through fundraising for research and involving families in research studies. 

The Society has now finally achieved National Commissioning Group funding for a UK-wide management clinic for LMBBS and Chris was delighted to announce that her son and others like him living in Wales will be eligible to attend the new clinics.

Professor Julian Sampson spoke about some exciting developments for some families affected by rare diseases by describing how new therapies are now becoming available to them.  He outlined his own journey as a doctor and researcher interested in Tuberous Sclerosis and how progress has been made thanks to his research being funded by the TS Association. 

 

Above: Professor Julian Sampson

He described that the Welsh Assembly Government’s support has enabled his team at the Wales Gene Park to undertake clinical trials in therapies for TS and that has now led to investment from pharmaceutical companies which are able to refine therapies for TS by re-positioning them from existing indications, resulting in significant hope and opportunity for people living with TS to receive therapies that will make a difference to them.

 

Above: The CMO, Dr Tony Jewell

 The final speaker was Dr Tony Jewell, the Welsh Assembly Government’s Chief Medical Officer.  He spoke on behalf of the Minister for Health & Social Services and the Welsh Assembly Government.  He spoke about the significant role patient organisations had for both support and drivers of improving care through involvement in research and working with clinicians to establish services in the NHS. 

He described how NHS Wales had to work smarter with its resources and work alongside the whole of the UK to build on existing expertise so that families living in Wales could access the right care and treatment for them, regardless of where they are.  Finally, he commended RDUK’s work in voicing the needs of those affected by rare diseases living across Wales and the UK.

The Rare Disease UK and Genetic Interest Group team would like to say a big thanks to all of those who attended and helped make the event a success and particularly to the speakers and Helen Mary Jones AM.

The Rare Disease UK and GIG team (from left to right): Stephen Nutt, Buddug Williams, Alastair Kent, Ben Francis, Melissa Hillier. 

 

Go to event photos

For more information on Rare Disease UK in Wales, please contact Buddug Williams: or 02920 687 646