Aims

The aim of this participatory action research was to enable young women with 22q11.2 Deletion Syndrome (22q11.2DS) to express their lived experience of healthcare transitions. 22q11.2DS is a rare genetic disorder with a developmental trajectory of chronic, multiple and complex health difficulties (Swillen and McDonald-McGinn, 2015).

Methods

Ethical approval was granted from UCD Human Research Ethics Committee in 2017. Six young women aged 21 to 35 years old with 22q11.2DS were subsequently recruited to a ‘Young Experts by Experience Panel’ (YEEP). Participatory Action Research (PAR) was the overarching methodological framework (Bhana 2006). Qualitative themes were initially elicited using arts based, narrative methods (Leavy 2015) and participant’s feedback was subsequently explored in video-recorded focus group discussions. A modified form of digital story methodology was also employed to ensure participants with intellectual disability could engage in iterative steps to develop a video that represented their lived experience and synthesised research findings for dissemination.

Results

Young people with the rare genetic disorder 22q11.2DS in Ireland reported that their healthcare transitions have been dominantly characterised by negative emotions such as anxiety, fear and confusion as well as significant expressive and receptive communication challenges with healthcare providers. A key theme was participants’ frustration associated with attending multiple medical appointments in a range of hospital locations with different healthcare providers with little or no knowledge of the genetic disorder.

The participants suggested key solutions to their identified challenges of healthcare transitions, including the development of a 'transition tool' to support their communication with multiple healthcare providers, and a proposal for a multidisciplinary ‘integrated care clinic’ for rare diseases in Ireland. The transition tool was subsequently developed with participants as a patient held document to inform the healthcare provider about the patient’s unique symptoms of the genetic disorder 22q11.2DS and to record the healthcare provider’s observations, recommendations and future appointments for the patient. Positive feedback was received on this transition tool when reviewed for usability by participants and clinicians (Lynch, Kerin and McNicholas, 2017) and the participants proudly presented it at the 2017 European 22q Alliance conference in Dublin. Participants reported they found both the process and the availability of a patient held document ‘empowering’ as they engaged in the iterative development of both the transition tool and the video which synthesised findings for dissemination.

Additionally, an evidence-based business plan for an integrated care clinic to address the current service gap was collaboratively developed by the researchers, clinicians and patient advocacy organisation. This was submitted to the Health Services Executive (HSE) for funding consideration.

Conclusion

This participatory approach to conducting research ‘with’ rather than ‘on’ this group of seldom heard young participants with 22q11.2DS (Kerin, Lawlor and Mc Nicholas, 2017) resulted in the collaborative development of a communication tool for use during healthcare appointments and transitions, the identification of a significant health service gap for the rare disease population in Ireland and a subsequent funding proposal to the national health service as to how to effectively address this. The PAR methodology and process was empowering for the participants in terms of the opportunity to ‘meaningfully participate and exert control in the research process’ (Povee, Bishop and Roberts, 2014, p. 893) and their development and subsequent use of a patient-clinician tool to enhance communication during healthcare transitions.

Header photo used with participants' permission.

Above photo: Prof Fiona McNicholas, Anne Lawlor, Lorna Kerin and participant Emma who presented together at the 2017 Children's Research Network conference. 

Acknowledgments

The project was funded by the Irish Research Council 'New Foundations' scheme which supports collaboration between academic researchers and community/voluntary organisations and the research was actively supported by the patient organisation 22q11 Ireland.