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Background To date, the rare disease research community is largely fragmented in Ireland without a coherent programmatic focus. All too often, priorities for research are decided by one group of stakeholders. The James Lind Alliance (JLA) model allows us to challenge this dynamic through the Rare Disease Research Partnership (RAinDRoP) Workshop which will enable clinicians, patients and carers to work together to identify and prioritise uncertainties that could be answered by research. The RAinDRoP is a truly collaborative effort in which everybody has a voice, and it refocuses the research on the patients rather than the disease. Objectives To identify and prioritise topics and questions in the three research areas: (1) Route to Diagnosis (2) Living with rare diseases (3) Integrated care or Holistic care. Design A modified nominal group technique. Setting Republic of Ireland Participants Anyone with experience of care for patients with rare diseases including patients, carers and healthcare professionals. Results This workshop is scheduled to take place on the 04th of April 2019. The result is not available at the time of submission. Conclusions This study is the first national prioritisation exercise to identify patient and healthcare professional priorities for rare diseases research. The research priority partnership will identify a range of important gaps in the existing evidence to inform (1) Pathway to Diagnosis, focusing on facilitating early, accurate diagnosis and the communication/informational challenges associated with a rare disease diagnosis (2) Supporting management and self-management of rare disease and (3) Integrated care pathways.

Objective Chronic Kidney Disease (CKD) is a debilitating lifelong condition, which can impact many aspects of a person’s life. Experiencing CKD during adolescence is further complicated by the multitude of developmental changes that young people go through at this time period. There is limited research that examines the perspectives of adolescents living with CKD and how they make sense of their experiences. This poster presentation will display/illustrate how adolescents’ use metaphors to narrate their experiences of living with Chronic Kidney Disease. These findings were identified from a qualitative narrative study examining Irish adolescents’ embodied experience of living with CKD. Methods A narrative study using an ethnographic approach was used in this study. Multiple methods were used to engage with five adolescents (10–17 years) living with CKD over an 18-month timeframe in both hospital and home settings. Data was collected from participants through participant observation, informal interviews and participatory methods i.e. body mapping. The collective stories of the adolescents were analysed using Riesman’s approach to narrative analysis. Results The findings of this study reveal that adolescents use visual and textual metaphors as a strategy for communicating the complexities of living with CKD. Within their narratives, adolescents, used scientific metaphors (CKD as a‘black hole’ and ‘atom’), journey metaphors (Orbiting) and supernatural metaphors (alien or vampire) to portray themselves and their condition, and to articulate their experiences in ways that were meaningful to them. Discussion The findings of this study offer a unique contribution to knowledge by highlighting the fact that metaphors are essential to adolescents’ narrations about living with, and communicating about, CKD experiences. Understanding how adolescents communicate about and experience their chronic condition is critical to enable health care providers to appreciate CKD beyond its physical and medical context; thereby providing awareness of the personal implications of chronic disease management on young people’s psychological and social health and wellbeing. These finding have further implications for how health care providers might effectively communicate with adolescents about their personal experiences of living with CKD.

Background Vascular access is required for haemodialysis (HD), a form of renal replacement therapy required when a child has acute or end stage kidney disease (ESKD). Central venous catheter (CVC) line infections are the second most common cause of vascular access loss in the long term HD patient, commonly caused by poor hand hygiene practices, clinical environment or inadequate sterilisation procedures. In the literature the reported rates of infection range from 0.8–4.8 episodes/1000 catheter days in this patient group. Aim To audit CVC line related infection rates in our tertiary HD unit in Temple Street Children’s University Hospital (TSCUH) over a 5 year period. Methods A retrospective review was carried out on all patients who had HD from January 2012- January 2017 (inclusive) using a CVC. Results/Findings 34 patients required HD, of which 44% were female and 56% male. Twenty-three patients (68%) were aged between 5–10 years of age. Dysplastic kidneys was the most common reason for requiring HD (n=9, 26.2%). Eight patients required HD for 1–6 months, 5 patients for 6–12 months, 19 patients for 12–48 months, and 2 patients for >60 months. Five out of 34 children developed CVC line infections with an overall infection rate of 0.22 episodes per 1000 catheter days. Loss of protective caps was the main reason for infection (n=3). Staph-aureous, pseudomonas oryzihabitans, enterococcus faecalis and mixed coagulase negative staphylococci were the identified organisms causing infection. Conclusions CVC line infections in long-term HD patients attending TSCUH are maintained at a low rate in comparison to published data. Strict application of Aseptic Non Touch Technique shows favourable results without the need for prophylactic antibiotics locks. Future work includes a cost benefit analysis of this practice.

Objective Chronic Kidney Disease (CKD) is a complex disease that requires lifelong treatment. Transplantation is the goal standard treatment, however; it is not without its challenges. While previous research has demonstrated that transplantation increases survival rates and enhances young people’s quality of life, little is known about the impact of kidney transplantation on adolescents’ self-identity development. This presentation will discuss the struggles that adolescent transplant recipients experience as they endeavour to incorporate a new kidney into their embodied self. These findings were identified as a predominant theme from a narrative inquiry of embodiment experiences among young people living with CKD in Ireland. Methods This study employed a narrative inquiry research design. Using an ethnographic approach data were gathered through multi-media approaches including: visual body maps (i.e. life-size human body images), oral informal conversations and observational field notes. Five adolescents (10–17 years) participated in the study, which took place over a period of 18 months as adolescents experienced living with CKD in both hospital and home settings. Results A nuanced finding identified from this study was a disrupted sense of self and identity arising from adolescents’ encounters with a foreign body part (i.e. kidney). Adolescent participants experienced a tension between their body, self and identity as a consequence of transplant surgery. They struggled to adjust to the presence of a foreign organ from a deceased donor and they were concerned about developing personality characteristics of the donor As one participant described, the kidney was not viewed as her own but was conceptualized as ‘a dead persons kidney’. Another participant described the prospective of acquiring the personal qualities or characteristics of the donor as ‘disgusting’. Findings also revealed that adolescents engaged in different individualised ways to cope with the transplanted organ. Discussion The findings from this study provide an understanding of the struggles adolescents endure as they attempt to incorporate a foreign organ within their bodies and the potential impact on their self-identity. Clinicians need to be aware that substituting kidneys with donor organs is much more than a complex technical procedure; it requires an amalgamation of ‘other’ and ‘self’. From a clinical perspective, a multifaceted and holistic person-centred care approach is needed to equip adolescents with the individual skills required to adapt to a new kidney.

Background and aims Our aim is to report the rare Alport syndrome in a mother and daughter. We also wish to highlight the difficulties experienced by Citizens of Ireland when trying to trace birth families in an attempt to obtain medical information necessary for optimum care of their own biological children. Methods We describe the clinical presentation, results of laboratory and radiological investigations and outcome to date of both patients. Results A 6 ½ year-old Irish female presented to our Paediatric Emergency Department with pyrexia, and dysuria. This was on a background history of recurrent urinary tract infections and bilateral sensorineural deafness with cochlear implants placed at 6 months of age by the National Cochlear Implant Programme. Microscopic haematuria and proteinuria were noted on urinary dipstick to which Mum remarked ‘I am also being investigated for blood in my urine’ however, ‘I was adopted and have been unable to find my biological family ‘. Our patient had one older brother. On examination, right sided flank pain and coke coloured urine were noted. Renal ultrasound confirmed right focal pyelonephritis. She was hospitalised and received appropriate antimicrobial therapy with a satisfactory clinical response apart from persistence of hematuria. The context of bilateral sensorineural deafness and associated renal issues with the limited family history cast suspicion of Alport Syndrome. Renal biopsy and genetic testing confirmed this diagnosis. Conclusion This child presented with expressive speech and language delay as an infant. An extensive family history would have facilitated an earlier diagnosis of Alport Syndrome thus improving patient care. Maternal guilt due to limited family knowledge and management of patient and parental anxiety were apparent. Finally, this case demonstrates the limited services available in Ireland for tracing lineage for adoptees such as the Adoption Authority and Private Investigators, bridging on the conversation of the right to privacy verses patient care.