Co-developing an Online Rare Disease Carer Support Tool in Northern Ireland (RD-CaST-NI)

Background: Rare diseases are serious, lifelong conditions that have no cure. Rare diseases affect one in every 17 persons. Approximately one-third of children with a rare disease will die before their 5th birthday. In the UK and Ireland as many people live with rare diseases as live with diabetes, yet rare diseases receive much less recognition and support. More than 110,000 people across Northern Ireland are affected by a rare disease.

Helping people living with a rare disease is an urgent priority for policymakers in the UK. However, less focus has been placed on people who provide care for those diagnosed with a rare disease. Many carers look after someone(s) 24/7 with little or no respite. Rare diseases can run in families so carers may be supporting more than one person. Unnecessary stress on carers can lead to poor mental and physical health, making it harder for them to help others. Patients and carers face difficulties when:

a) seeking a rare disease diagnosis (in NI the average wait time for an accurate diagnosis is 5 years);

b) looking for an effective treatment (90% or more rare diseases have no approved therapy or medication); or

c) searching for information (many doctors do not know about individual rare diseases and say that finding accurate information is problematic).

Carers for people with a rare disease may experience high out-of-pocket costs for heating or medical equipment etc. Some carers cannot regularly work beyond their caring role. Carers often report geographical and / or social isolation.

Meeting other carers can provide support and facilitate sharing experiences and information, but meeting in person can be challenging. While online resources can help, few are developed from strong evidence or with input from carers. Rare disease support groups can help, but they are underfunded and typically focus on people diagnosed with a rare disease. In response to requests from our local rare disease community, we will work with carers to develop an online support tool for NI.

Project Overview: Working with carers of people with a rare disease, we will co-develop an online Rare Disease Carer Support Tool in Northern Ireland (RD-CaST-NI). This will help support carers, increasing their well-being and resilience. RD_CaST-NI will signpost carers to relevant services and help strengthen their voice, highlighting good practices and unmet needs. Together we will provide robust evidence to support changes to policy and practice to better support carers across NI.

We will partner with a wide range of rare disease carers to ensure this RD_CaST-NI tool meets the needs of carers of children, adults, and / or multiple family members with rare disease(s). Building on previous research, we will work with carers to help design the resource and host a workshop to learn what carers would find helpful within this RD_CaST-NI tool. We will interview carers to hear relevant stories about their lives and what they want in this online resource to refine the tool. A range of videos with carers sharing their lived experiences about requested topics will be included. We will also create additional videos providing advice and signposting carers to supports and services. Different groups of carers will evaluate the tool as it develops and provide feedback to improve the next version.

What we learn in this project will help inform the development of a dedicated carer element for the information hub proposed in the NI Department of Health rare disease action plan 22/23. We hope, if the tool proves useful, RD_CaST-NI will become a sustainable go-to resource to support carers of people with a rare disease across NI.

Underlying Framework: The RD_CaST-NI project is guided by the updated MRC framework for complex interventions, the Carer Resilience Model of Parkinson and the co-development model of Santin, one of the project co-investigators. The MRC model outlines expectations for the development phase of our project. Parkinson's model posits that carer resilience, or the ability to bounce back from adversity, depends in part on maintaining carers' psychological well-being and access to key resources. Santin's model is outlined below.
Method: Early in the project we will collect information in a Theory of Change workshop with stakeholders from across NI to tailor the Carer Resilience Model to fit the NI context. As per the co-development model, we will first develop the initial prototype (Phase 1) by

finalising the evidence base and programme theory

identifying RD_CaST-NI content with our Development/PPI Group and videographer/website developer

holding focus groups with RD carers in NI to specify relevant video content and relatable speakers to deliver the information on the RD_CaST-NI website

producing the videos with carers plus specialists for the initial prototype and

refining the initial prototype through individual usability testing/Think Aloud interviews.

We will finalise the prototype (Phase 2) through

2.1) gathering feedback from NI carers testing the resource at home

2.2) incorporating findings from the home testing and carer-identified progression criteria to produce an end-of-project prototype for feasibility/pilot testing in the next study and

2.3) hosting a dissemination meeting to provide members of the RD community an overview of the research process and findings, plus discuss next steps.

We will also disseminate results in reports, publications and conference presentations.