International Rare Disease Day 2016: Patient Voice & Empowerment

This year’s International Rare Disease Day Theme is “Patient Voice”; and we are making our contribution through three events:

First, on Wednesday 17th February, at 12.30 to 2pm, the launch of the Foyle and North West Rare Disease Forum, which will provide support and advocacy for people with rare diseases in the Northwest.  This will be held in the Dennis Desmond Boardroom, MDEC Building, Altnagelvin Hospital, Glenshane Road, Londonderry, BT47 6SB. 

Dr Fiona Stewart, MBE, Consultant in Medical Genetics with the Northern Ireland Regional Genetics Service, who runs the Genetics clinic in Altnagelvin Hospital, will give the introduction; and Sandra Campbell, who is the Forum Co ordinator, will explain how we hope the Forum will help support families, and engage positively in reshaping services for those with rare conditions.

As space is limited, please email if you would like to attend, or would like more information.

Second, on Monday 29 February, from 10.00 to 3.30pm, our International Rare Disease Day Conference: Patient Voice and Empowerment.  This is being held in Riddel Hall, 185 Stranmillis Rd, Belfast, Antrim BT9 5EE

The morning sessions will include a presentation from a leading health policy maker on developments in Northern Ireland; and feature panel discussions, on Education, Innovation and Advocacy, led by patients, family members, and patient advocates.

The afternoon session will be an interactive Workshop, “Policy into Practice” to bring forward practicable ideas for speeding up policy implementation following the production of Northern Ireland’s Rare Disease Implementation Plan, and producing tangible wide reaching change, including developing a Virtual Centre of Expertise for Rare Disease for Northern Ireland.

Register here:

Third, again on Monday 29 February, from 5pm – 7pm, Kieran McCarthy MLA is kindly hosting a Reception for NIRDP, in the Long Gallery in Parliament Buildings, Stormont, Belfast, BT4 3XX. This will give our members and MLA’s a welcome opportunity to meet, to discuss rare disease issues, to celebrate the progress that has been made in the past few years, and to look ahead, including a brief report from our Conference on enabling Patients and Families, who are “Experts by Experience” to contribute fully to the transformation process, working in partnership with policy makers and providers.

It is also our opportunity to showcase the publication of the first Report to Ministers from the UK Rare Disease Forum, the body charged by all four UK Health Ministers with monitoring progress on implementation of the UK Rare Disease Strategy.  We are especially fortunate that Forum Chair, Alastair Kent OBE, Chair of RDUK, will attend our Reception, and will speak on the role of the Patient Voice in taking forward work on rare disease.

Register here:

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Great News! NI’s RD Implementation Plan and Genomic Medicine Centre Announced

Minister Simon Hamilton today  announced a £3.3m investment into the creation of an innovative Northern Ireland Genomics Medicine Centre (NIGMC); and formally launched the Northern Ireland Rare Disease Implementation Plan: wonderful news for patients, carers, and clinicians living and working with rare disease!
Minister Hamilton said:
“The Plan embodies my commitment to implement the UK Rare Diseases Strategy in Northern Ireland. It provides a holistic approach to caring for people with a rare disease and to maximise the available resources for research, innovation and collaboration across the UK to benefit the entire rare disease community. The Plan also provides the opportunity to work with the Republic of Ireland to realise the mutual benefits of cross ­border collaboration on rare diseases.”

For everyone living and working with rare disease, this  commitment by the Minister brings hope, and an opportunity to participate in building a better future for all families living with a rare disease. It’s a superb new resource for the clinicians working to give their patients a diagnosis and improve understanding of their conditions. It gives a clear framework and impetus for work on  creating new pathways for treatment and management.

We’ve worked together (patients, families, elected reps, clinicians, managers, officials) to get the UK Strategy; the NI Plan; and the Genomic Medicine Centre.  We will keep working together, to reap the full benefits and provide better opportunities for all our young people and families into the future.

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Call to Action: Health and Social Care (Control of Data Processing) Bill

The NI Assembly is currently scrutinising the Health and Social Care (Control of Data Processing) Bill. If the Bill is approved and made law, it will regulate and safeguard the processing of information about patients.

Why is this Bill important?

We need this change in the law! Without it,  information about patients in Northern Ireland cannot be collected and  studied. So we won’t have reliable information,which is essential for planning and delivering health and social care services. This means our services are not evidence-based, and can’t be benchmarked against those available in other parts of the UK and wider afield. We have no way of knowing if our patients are getting high quality care or how well carers are being supported. We cannot identify where improvements are needed and what action can be taken to remedy gaps in services.

Without the new legislation, people in Northern Ireland can’t participate in many research projects, or access trials of new treatments that are available in other parts of the UK.

Without it, difficulties in accurately identifying who could benefit from new treatments in Northern Ireland as they become available will continue.

The new legislation will also allow us to create the much needed Rare Disease Registry to evaluate and facilitate high quality care and services.

It is vital that our MLAs know important this legislation is for everyone in Northern Ireland, especially to those living with rare disease.

What you can do

Please email your MLAs and ask them to support the Bill.

There’s a draft letter you can use below; and more information about the Bill.

You can find out who your MLAs are here

And their email addresses here

If you have any problems get in touch with with your postcode and she’ll send you the contact details of your MLAs

Let others know: get your family and friends involved too!

Join our Facebook page, follow us on Twitter @ni_rdp and share our message.


Draft Letter:

Dear [Name of MLA]


I am writing to ask you to support this Bill. I am [explain who you are, e.g. parent, carer, someone living with a rare disease, friend/ family member of someone with a rare disease].

One of the biggest problems our health and social care services face when trying to help people with rare diseases is the lack of accurate information. For example, who has them, how many people are affected, and what works well in treating and caring for them?

This lack of information makes planning impossible, and means that every family and every patient has to make an individual case for what they need. This is exhausting for families, and wasteful and inefficient for the authorities. Without the new legislation, information cannot be gathered, analysed, and used for planning our services.

The Bill would also help advance much needed research into rare diseases and help develop new treatments. Because each rare disease affects so few people, all the information that can be gathered from across the world needs to be shared as widely as possible. Unfortunately, at present, because we in Northern Ireland don’t have statutory regulation of our patient information, other countries won’t accept our information, and we can’t join international efforts to understand or treat rare diseases, or share in their benefits, such as medical trials.

We are delighted that this Bill has been brought forward. It contains strong protections, and allows information to be used for the benefit of all.

Please support the Bill in the Assembly; if you would like further information please contact the Northern Ireland Rare Disease Partnership at

Yours Sincerely

[Your Name]

[Your Address]

The Detail: the Health and Social Care (Control of Data Processing) Bill: A Significant step Towards Better Health.

The Health and Social Care (Control of Data Processing) Bill is essential to:

  • Eliminate current uncertainty surrounding use of patient/client information other than for the direct care of the individual concerned.
  • Enable organisations carrying out vital research to improve quality and equality in health and social care to do so without facing risk of legal action due to the current uncertain position on sharing patient/client identifiable information in Northern Ireland.
  • Introduce safeguards and a robust framework for sharing of user identifiable information to enable better health and social care provision without mistakenly compromising patient/client confidentiality.
  • Enable a collaborative approach to sharing of information, avoiding duplication and reducing cost.
  • Inform assessment, diagnosis, and treatment and care of patients/clients.
  • Help address the challenges the Northern Ireland community and health service face with increasingly complex health and social care needs, through enabling better understanding of comorbidities/multi morbidities/ rare disease and related specialist and palliative care needs and approaches.
  • Underpin and regulate the development and use of structured registries; including development of genetic registers*.
  • Develop genuinely evidence based commissioning, service planning and service delivery in Northern Ireland- inclusive of drawing on the benefits of Northern Ireland’s integrated health and social care system, strengthening the whole systems approach to care of the individual, and supporting epidemiology studies that enable continuous advancement in Northern Ireland’s “Knowledge Economy”, and improvement in population health strategy.
  • Enable NI’s participation in UK, R.o.I and international research and development, and therefore reap the medical, social and economic benefits of Northern Ireland’s unique opportunities in the field of research.
  • Enable Northern Ireland to achieve international best practice standards in health and social care.
  • Ultimately, reduce inequalities and provide high quality health and social care.
  • *Development of genetic registers, which this legislation would help, would also facilitate increased genetic counselling for family members which impacts on long term health and reduction in morbidity and mortality, and would be supported by the Northern Ireland Regional Genetics Service (NIRGS).


Rare Disease and Use of Identifiable User Information

Rare diseases occur relatively frequently within the Northern Irish population, yet they are poorly understood at a population level, and the scale of their impact is not possible to assess; leading to poor planning and service provision.

Coordinated information collection on their incidence is not currently happening due to:

  • A lack of technological infrastructure to collect information on  individual genetic conditions.
  • It is important particularly for rare diseases that information is collected as comprehensive as possible: when searching for needles in haystacks it is important to have as much of the haystack to search through as possible. This is why the non-consent model is extremely important to the rare disease community and to improving our understanding of rare diseases.

Improved information and understanding will lead to better

  • Diagnostics services;
  • Opportunities to optimise potential for improved treatments and management plans;
  • Population plans and allocation of services;
  • Safer services for patients.


All this will also reduce Emergency Department and unscheduled admissions; and help achieve the vision of Transforming Your Care- the right treatment, in the right place, at the right time.

There are also broader and very significant benefits to Northern Ireland flowing from the ability to use data in improving our knowledge of rare disease.

  • 100K Genomes is a UK wide project aiming to sequence 100,000 whole genomes from cancer and rare disease patients by 2017.The ambition is that the project will make the NHS the most scientifically advanced healthcare system in the world. Rare disease is now at the forefront of science and research, innovation and progress. Once this legislation is in place Northern Ireland is well placed to be part of this revolution in health care. Northern Ireland with its close connections and tradition of world class excellence in health issues is unique, and could play a valuable role in tackling cancers and rare diseases; so increasing understanding of all health conditions. However, the legislation is needed for access to UK, European, and worldwide projects. Changes are also needed to ensure that funding is available to enable individuals in Northern Ireland to have equal access to testing for genetic disorders including those offered through the UK GTN or (for very rare disorders) those offered overseas. Ideally, funding would develop high through put sequencing locally, building Northern Ireland’s Knowledge Economy, improving population health, and providing high quality careers for our young people, and opportunities for our local industry.

Better understanding of rare disease is not only important to the very significant group of people in Northern Ireland living with rare conditions. It is the key to understanding more common conditions. A growing body of evidence shows that rare disease research can yield important insight into more common conditions. Rare diseases are often more extreme and have a more straightforward aetiology than their common counterparts, and therefore provide models of disease that are easier to study. Research on fundamental diseases can yield important insight into the pathogenesis of more common diseases, lead to the development of block-buster drugs, and can even explain how certain genetic mutations have become so common in today’s population.

The value of truly understanding how rare diseases affect our population is tremendous. The Health and Social Care (Control of Data Processing) Bill is essential to allow data collection and analysis, and to enable that understanding to be developed.

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NIRDP’s Newry Mourne and South Down Group Meeting 24 September

NIRDP’s Newry Mourne and South Down Group will meet this Thursday, 24 September, from 7pm to 9pm in the Mourne Country Hotel.

The Guest Speaker will be Geraldine Maguire, Assistant Director  from the Southern Trust; and we hope that it will be an informative and constructive meeting..we are stronger together!

Please contact Fionnuala, (e mail: for details..

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Rare Disease and Research Seminar Programme: Understanding and Managing Behavioural Changes in Huntington’s Disease

The Programme of Rare Disease and Research mini Seminars, bringing internationally recognised experts and senior NI Clinicians together to improve practice, kicks off on 17 September at 5.30 pm in the Postgraduate Medical Lecture Theatre at Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB.

Errol Walsh from HDANI, whose step daughter Rachel suffered from HD, will give the family perspective; and Prof. Jane Paulsen, from the University of Iowa, will give the keynote address on what her research has shown about understanding the behavioural changes in HD, and how best to manage these.

Dr Seamus Kearney, Consultant Neurologist at the Belfast Trust, will be setting the Northern Ireland scene, and Sorcha McGuinness, Executive Director of HDANI, will set out the Patient Organisation contribution, leading to a Panel discussion about how research findings on HD can be used to change clinical and social care practice, improving outcomes for all those affected by HD.

There’s a food and drink reception at 5.30; so please use the link below to Registerincluding giving any dietary or access requirements – so that we can make sure everyone is catered for!

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