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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 - Northern Ireland Assembly Event

On a beautiful sunny 3rd March, over 100 people gathered at Stormont, Belfast for our second annual Rare Disease Day event in Northern Ireland and the national launch of our report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy. The group was made up of a wide range of stakeholders from the rare disease community including patients, families and carers, clinicians, researchers and representatives from the Department of Health, Social Services and Public Safety (DHSSPS). It was hosted by Jim Wells MLA, Chair of the Health, Social Services and Public Safety Committee, who we’re very grateful to for standing in at (very) short notice when Michelle O’Neill MLA was called away due to a family emergency. There were also a number of other MLAs in attendance including Samuel Gardiner, Kieran McCarthy, Conall McDevitt, Alex Easton, Anna Lo and Trevor Lunn.

Jim Wells MLA began by welcoming everyone to the event and said he was heartened by the great turnout. He explained that his interest in rare diseases began when his daughter was diagnosed with retinitis pigmentosa, which led to him learning more about the extent of rare diseases in Northern Ireland. He has found this to be an issue which the general public tend to know very little about and so the importance of an alliance, such as Rare Disease UK (RDUK), to campaign for the needs of rare disease patients is crucial. He passed his thanks to everyone for attending and wished all the best for future work to benefit those that require help and support.

Our next speaker was David O’Prey, carer for Mr Begley who has Loeys-Dietz syndrome, a rare genetic condition that affects the connective tissue in the body. Mr Begley was misdiagnosed for 17 years and in 2001 had to undergo a 14 hour heart operation. David explained his opinion that the health services don’t understand this condition and that it is time the health authorities in Northern Ireland learnt how to deal with rare conditions. David had to fight to get a meeting with a professor in London after his request ‘fell on deaf ears’, yet he feels that without the connection that was eventually made with the Royal Brompton, Mr Begley would not be here today. He made a plea for the DHSSPS to better help those with rare diseases and explained his frustration at how difficult it can be to access services and support that should be readily available. He added that the health service is letting people down and he believes that a strategy for rare diseases is essential to improve the experiences of these patients and reduce the problems they currently face. He believes that people with rare diseases need to work together, speak out and ask questions to ensure the situation is improved.

Alastair Kent, Alison Wilson, Dr Miriam McCarthy, Jim Wells MLA, David O'Prey

Next we heard from Alison Wilson, the All Ireland Advocacy Support Worker for the Mucopolysaccharide Society (MPS Society) and Primary Immunodeficiency Association (PIA). She explained that although patients with MPS diseases and primary immunodeficiencies are able to access specialised services for their condition, they also have to deal with many non-medical issues, such as housing adaptations, educational needs, changes in treatment regimes, employment support and assistance in dealing with the benefit systems, and it can be very difficult to access help with these issues. The MPS Society and the PIA have a wealth of knowledge in these areas and this was the basis for the development of Alison’s position. Her post combines collaboration and innovation, which are both key points of RDUK’s report, to improve patient experiences.

Alison explained that she is able to provide one-to-one support for patients to discuss their non-medical needs and can link with families soon after diagnosis to provide early support. She works with healthcare professionals and has had very good feedback from both patients and professionals. Alison said that she is also present in an advocacy and support role at the specialist MPS clinics run by the MPS Society. These clinics occur twice a year in Northern Ireland and specialists from all of the UK are flown to Northern Ireland so patients can see everyone they need in one day, so reducing patients need to travel to multiple appointments. She is able to meet primary immunodeficiency patients at their infusion clinics which they have to attend multiple times per week.

Alison Wilson

Alison said that although her post is new, she is already experiencing an increase in her workload demonstrating the huge benefit that her role provides to patients. She summed up by saying that patient organisations often have a wealth of resources to support patients and improve their lives, and that the health service needs to work in collaboration with them to develop these outreach services.

Alastair Kent OBE, Chair of RDUK, then spoke about the issue of rare diseases and RDUK’s report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy. He emphasised that rare diseases are not a trivial problem – they affect 1 in 17 people equating to approximately 100,000 people in Northern Ireland alone, and that although there are examples of good practice in service delivery, this tends to be the exception rather than the rule. He highlighted the issue of the delays patients often experience in getting a diagnosis with almost half of all patients waiting over a year for a diagnosis, and over one in ten waiting more than ten years. This represents at least 45,000 years of unmet patient need in Northern Ireland and RDUK’s recommendations aim to significantly reduce this. He explained that the report is a response to the EU Recommendation that requires member states to develop a national strategy by 2013 and sets out RDUK’s recommendations for the UK strategy. There are 27 general recommendations and over 85 specific recommendations, some of which require little money and can be implemented quickly, others that will require more time, but all of which are realistic and feasible and will greatly improve the experience of rare disease patients. He added that implementation of these recommendations would also result in a more effective use of Health and Social Care resources in Northern Ireland, as well as better management of patients by reducing unnecessary diagnostic tests and preventing patients from being treated for conditions they do not have.

Alastair gave examples of some excellent practice that exists in Northern Ireland, such as Alison Wilson’s role and the EUROCAT registry of congenital anomalies based at the University of Ulster. Alastair continued that the challenge now is to make more good things happen for rare disease patients. This will require collaboration and determination, but is ultimately achievable. He concluded by saying that he was delighted to be able to present RDUK’s report to Dr Miriam McCarthy, representing the DHSSPS.

Alastair Kent presents the RDUK report to Dr Miriam McCarthy

Dr McCarthy started by saying that the Minister, Michael McGimpsey MLA, was disappointed not to be able to attend, but that they were looking forward to working to make the report a reality. She admitted that care for rare disease patients ‘had not always been great’ but confirmed that ‘changes are afoot’ and she hopes for a more informed community in the future. She agreed that there should be equitable access to all services for rare disease patients and added that it’s ‘not about people with rare diseases, it’s about people’ and that we should ensure that people are able to lead as normal a life as possible.

Dr McCarthy said that it is important to raise public and professional awareness of rare diseases, and that there is the need for a strategy to achieve the best outcome for patients across the UK. She congratulated RDUK and all who had been involved in the development of the Improving Lives, Optimising Resources report and for their work to push rare diseases as a priority. She confirmed that the there have already been meetings between the UK health departments to discuss a UK strategy, and that she looked forward to continuing this relationship to reach the 2013 deadline. Dr McCarthy believes it is important to study the recommendations in RDUK’s report to identify how to improve service provision for patients in Northern Ireland. She agreed with Alastair that collaboration will be important, along with pooling of information, to improve the lives of patients and ensure high quality care is available everywhere. She concluded by saying that the Minister is supportive of the work of RDUK as well as adding her own support.