Joint North-South Rare Disease Conference 2018

Our Northern Ireland patient representative, Michael Ingleston, attended the Joint North-South Rare Disease Conference on the 5th March 2018. The majority of Primary Immunodeficiencies are classified as rare diseases so PID patients, along with many others, will benefit from improved care for rare diseases.

The event was held in the historic Riddell Hall, Queen’s University Belfast and featured a packed programme of  interesting and informative talks. Staff from the Northern Ireland Department of Health assisted the Northern Ireland Rare Disease Partnership (NIRDP) with the organisation of this year’s event and it was encouraging to see influential figures in attendance including Dr Michael McBride, the Chief Medical Officer of the Northern Ireland Department of Health.

The conference was opened jointly by Fiona McLaughlin of NIRDP and Philip Watt of the Rare Disease Task Force Ireland.  They both expressed a determination to continue the collaborative cross-border approach to the management of rare diseases despite the challenges created by Brexit.

Les Allamby from the Northern Ireland Human Rights Commission gave the next talk entitled “ Nothing About Us Without Us”. Les explained that under section 4.3 of the United Nations Convention on Rights for people with Disabilities (UNCRD) there is an obligation on governments to consult with and work with people with disabilities on issues that affect them.

Dr Michael McBride then gave an update on the progress made on implementation of the Rare Disease strategy. Work is ongoing on creating a registry of rare diseases in Northern Ireland and on addressing the educational and training needs of the medical profession in relation to rare diseases. He also informed the conference that two regional rare disease support officers have been appointed.

In the final section before lunch, Participating in Research, Dr Maurice O’Kane explained the role of the NI Clinical Research Network in facilitating medical research and their improved patient screening and recruitment capabilities. Tiago Magalhaes from Genomics Medicines Ireland gave a passionate address on the expanding possibilities in the field of genomic medicine.

The session after lunch began with a section entitled Building Capacity which was essentially about making the voices of patients heard within the healthcare system. Martin Quinn from the Public Health Agency talked about how Personal and Public Involvement (PPI) can help improve health and social care. He directed attendees to the website engage.hscbi.net which contains useful resources to support PPI.

This was followed by a section entitled What Does Success Look Like which described how services have been improved for some rare diseases such as 22q11 deletion syndrome. Dr AJ McKnight updated delegates on the progress made by the Northern Ireland Genomic Medicine Centre.

The final panel discussion – Beyond the 2016 to 2020 Strategies: Next Steps - included a tantalising glimpse of an ambitious project entitled Encompass which aims to deliver an integrated digital healthcare record across acute and community care in Northern Ireland. This would be a major advance for patients with PIDs and other rare diseases who have to attend many different specialties in different hospitals as all their information could be accessed from a single source. It is hoped Encompass will be rolled out in 2022, resources permitting!

The conference was closed by Joe McHugh TD, an Irish Government minister at the Department of the Taoiseach, who captured the mood of the conference well with a speech that was upbeat and optimistic despite the uncertainties caused by the absence of a functioning NI assembly and the ongoing Brexit negotiations.

Posted April 2018