Who knows what in rare disease? Engagement, information and communication

As part of the work on the NI Rare Disease Plan, NIRDP has been running a series of Workshops across Northern Ireland, and an Online Survey, to identify information needs in relation to rare disease issues; what information is currently available and what information people would like to help them live or work with rare conditions.

On 7 June, a workshop chaired by Professor Ian Young, the Chief Scientific Officer and Chair of the NI Rare Disease Implementation Group,  heard about progress in genetics, presented by Dr Tabib Dabir, Clinical Lead, NI Regional Medical Genetics Service (and member of NIRDP’s Board)  and in metabolics, presented by Dr Clodagh Loughrey, Consultant Chemical Pathologist and Clinical Director Laboratories, BHSCT.

It’s clear from these presentations that the pathway to diagnosis, and the options available for management and treatment of complex and rare conditions, will soon alter dramatically.  Indeed some changes are already happening, with an individual’s genetic make up helping to determine the best course of treatment in some cases. It’s essential that we think through how to make best use of these advances!

Participants then considered the emerging findings from the Workshops and the Survey, presented by Dr Jane Miller, Research Fellow at the NI Genomic Medicine Centre  and NIRDP Chair Fiona McLaughlin, before working in five groups to validate and  consider how progress could be made on the key areas identified in the Workshops and in the Survey.

Suggestions for improving information and communications

  • Develop care pathways / flow charts / support plans / signposting.
  • Have one ‘go to person’ who co-ordinates care and information sharing between those involved in care:  “Care navigators” to support patients, families, and clinicians.
  • Develop a hub / portal for accessing information for medics, other professionals and people with a rare condition/disease.
  • Develop referral routes to support groups, or to other people with the same condition, from the point of diagnosis.
  • Look and take learning from other models e.g. Cancer Care; Maternity Care (where mothers hold information in The Red Book) Downs Syndrome etc.

There were many valuable suggestions, and much learning across the whole group- for example, about the proposed introduction of the SNOMED coding system across both primary and secondary care; and planned technological developments within Health & Social Care.  Also, locally based training for patients, along the lines of the EUPATI modules some of our members are already familiar with, is hopefully to become available.

We are still processing all the information that emerged; and planning follow up through a virtual working group to take forward the ideas in more detail.

Further details to follow- watch this space!

And if you haven’t already done so, please complete the Survey and get your family and health care colleagues to do so too …

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