Experience of health care at a reference centre as reported by patients and parents of children with rare conditions

Abstract

Background Whilst diagnostic pathways for children with rare conditions have shown marked improvement, concerns remain about the care children with rare conditions receive at the level of the health care provider. There is, therefore, a need to improve our understanding of the health care received and explore the development of benchmarks that can be regularly monitored. Methods Patients and parents with rare conditions at a tertiary children’s hospital were approached to complete a questionnaire-based survey that enquired on their experience of clinical care. The survey explored six key themes: diagnosis; provision of information; availability of support; satisfaction with healthcare team; awareness and support for life-limiting conditions; and participation in research. Results 130 questionnaires were completed on behalf of 134 patients between 2018 and 2020. Of these, 114 (85%) had received a formal diagnosis, 5 (4%) had a suspected diagnosis and 15 (11%) were undiagnosed. Of the 114 who had received a diagnosis, 24 (20%) were diagnosed within 6 months of developing symptoms, and 22 (20%) within 1–3 years. Seventy patients (53%) reported that they were given little or no information around the time of diagnosis, whilst 81 (63%) felt they were currently well supported, mostly from family members, followed by friends, hospital services, school, other community based healthcare services and lastly, primary care. Of the 127 who were asked, 88 (69%) reported a consistent team of healthcare professionals taking overall responsibility for their care, 86 (67%) felt part of the team, 74 (58%) were satisfied with the level of knowledge of the professionals, and 86 (68%) knew who to contact regarding their condition. Of the 91 who were asked, 23 (25%) were aware their child had a life limiting condition, but only 4 (17%) were receiving specialist support for this. Of 17 who were asked about research, 4 (24%) were actively participating in research, whilst the remainder were all willing to participate in future research. Conclusions The survey provides a unique insight into the experience of patients and parents within a specialist centre and the benchmarks that it has revealed can be used for future improvement in services.

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

“…An unprecedented proportion of the patients in our study were diagnosed at the time of the first symptoms, but this can be explained by the fact that most participants were affected by well-described diseases, such as albinism, DMD/BMD, cystic fibrosis (CF), which are relatively easy to diagnose by first symptoms and/or newborn screening tests. In our respondents, almost 10% of the patients remained undiagnosed, around the same range as previous findings ( 6 )( 25 ). Recently, we have received the approval of the continuation project of ISTisNA by Istanbul Development Agency.…”

Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings

“…Considering that rare diseases can have a major effect on patients and families, it is emphasized that decisions made by health care providers should be grounded on data that come from the affected individuals themselves [42]. Assessing the HRQoL and mental health of affected children and adolescents is therefore especially valuable in tailoring support for this highly stressed group.…”

Patient-reported experience of clinical care of osteogenesis imperfecta (OI) during the COVID-19 pandemic

“…Rare conditions or rare diseases are defined in Europe as those conditions that affect less than 1 in 2000 people ( 4 ), with the majority being chronic, debilitating or even life-threatening ( 4 ). From an organizational point of view, lockdown pressures during the recent pandemic have resulted in delays in treatment and difficulties in accessing treatment ( 3 , 5 , 6 ), and additional pressures have been exerted on charities and support groups who frequently provide information and support ( 7 ). With new rules on public gatherings and social distancing, fundraising events have been canceled resulting in financial hardships for charities ( 1 ).…”