Rare Disease Day 2016

Michael Ingleston, our PID UK patient representative for Northern Ireland, attended two events on Rare Disease Day.

The Northern Ireland Rare Disease Partnership (NIRDP) conference took place at Riddel Hall, Queen’s University Belfast. The theme of this year’s conference was ‘Patient voice: join us in making the voice of rare diseases heard’.

Need for collaborative working

The conference began with the keynote address by Dr Michael McBride, Northern Ireland Chief Medical Officer. Dr McBride said that work has begun following the launch, in October 2015, of the Northern Ireland Implementation Plan for Rare Diseases. He emphasised the need for collaborative working in relation to rare diseases.

Voice of patients

For the remainder of the morning, ten different speakers gave their perspective on how to make the voice of patients heard through the aims of the NIRDP, which are educating, advocating and innovating. The topics included the education of medical undergraduates in patient experience, the use of the European Patients’ Academy on Therapeutic Innovation ‘educational toolbox’ for patient advocacy and the innovation of new services, such as multidisciplinary clinics and the Northern Ireland Neurological Care Advice Service.

Genomic medicine

In the afternoon, Dr AJ McKnight gave a presentation on the Northern Ireland Genomic Medicine Centre, which has recently been funded with £3.3m from the Northern Ireland Executive and the Medical Research Council.

After the conference, many of the delegates moved on to the second local Rare Disease Day event – a reception hosted by Kieran McCarthy MLA in the parliament building at Stormont. Mr McCarthy spoke of the Data Processing Bill that has recently passed through the executive and which will assist the work of the new Genomic Medicine Centre. Next, Alistair Kent OBE, Chair of the UK Rare Disease Forum, presented the progress report on the implementation of the UK Strategy for Rare Diseases. The final speaker of the evening, Health Minister Simon Hamilton MBA, announced some more good news – a further £190,000 of funding to increase access to genetic testing.

Posted March 2016