Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals

doi:10.1186/s13023-023-02934-9

. 2023 Nov 23;18(1):364.

doi: 10.1186/s13023-023-02934-9.

Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals

Holly Walton¹, Pei Li Ng², Amy Simpson^{2

3}, Lara Bloom⁴, Lyn S Chitty^{5

6}, Naomi J Fulop², Amy Hunter³, Jennifer Jones³, Joe Kai⁷, Larissa Kerecuk^{8

9}, Maria Kokocinska⁸, Kerry Leeson-Beevers¹⁰, Sharon Parkes⁸, Angus I G Ramsay², Alastair Sutcliffe¹¹, Christine Taylor², Stephen Morris¹²

Affiliations

¹ Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK. holly.walton@ucl.ac.uk.
² Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK.
³ Genetic Alliance UK, Creative Works, 7 Blackhorse Lane, London, E17 6DS, UK.
⁴ The Ehlers-Danlos Society and Academic Affiliate Professor of Practice in Patient Engagement and Global Collaboration (Penn State College of Medicine), Hershey, USA.
⁵ North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.
⁶ UCL Great Ormond Street Institute of Child Health, London, UK.
⁷ Division of Primary Care, Centre for Academic Primary Care, NIHR School for Primary Care Research, University of Nottingham, Floors 13-15, Tower Building, University Park, Nottingham, NG7 2RD, UK.
⁸ Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
⁹ NIHR Clinical Research Network West Midlands, Birmingham, UK.
¹⁰ Alstrom Syndrome UK, 4 St Kitts Close, Torquay, TQ2 7GD, Devon, UK.
¹¹ UCL and Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
¹² Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

PMID: 37996938
PMCID: PMC10668407
DOI: 10.1186/s13023-023-02934-9

Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals

Holly Walton et al. Orphanet J Rare Dis. 2023.

. 2023 Nov 23;18(1):364.

doi: 10.1186/s13023-023-02934-9.

Authors

Affiliations

¹ Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK. holly.walton@ucl.ac.uk.
² Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK.
³ Genetic Alliance UK, Creative Works, 7 Blackhorse Lane, London, E17 6DS, UK.
⁴ The Ehlers-Danlos Society and Academic Affiliate Professor of Practice in Patient Engagement and Global Collaboration (Penn State College of Medicine), Hershey, USA.
⁵ North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.
⁶ UCL Great Ormond Street Institute of Child Health, London, UK.
⁷ Division of Primary Care, Centre for Academic Primary Care, NIHR School for Primary Care Research, University of Nottingham, Floors 13-15, Tower Building, University Park, Nottingham, NG7 2RD, UK.
⁸ Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
⁹ NIHR Clinical Research Network West Midlands, Birmingham, UK.
¹⁰ Alstrom Syndrome UK, 4 St Kitts Close, Torquay, TQ2 7GD, Devon, UK.
¹¹ UCL and Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
¹² Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

PMID: 37996938
PMCID: PMC10668407
DOI: 10.1186/s13023-023-02934-9

Abstract

Background: Poorly coordinated care can have major impacts on patients and families affected by rare conditions, with negative physical health, psychosocial and financial consequences. This study aimed to understand how care is coordinated for rare diseases in the United Kingdom.

Methods: We undertook a national survey in the UK involving 760 adults affected by rare diseases, 446 parents/carers of people affected by rare diseases, and 251 healthcare professionals who care for people affected by rare diseases.

Results: Findings suggested that a wide range of patients, parents and carers do not have coordinated care. For example, few participants reported having a care coordinator (12% patients, 14% parents/carers), attending a specialist centre (32% patients, 33% parents/carers) or having a care plan (10% patients, 44% parents/carers). A very small number of patients (2%) and parents/carers (5%) had access to all three-a care coordinator, specialist centre and care plan. Fifty four percent of patients and 33% of parents/carers reported access to none of these. On the other hand, a higher proportion of healthcare professionals reported that families with rare conditions had access to care coordinators (35%), specialist centres (60%) and care plans (40%).

Conclusions: Care for families with rare conditions is generally not well coordinated in the UK, with findings indicating limited access to care coordinators, specialist centres and care plans. Better understanding of these issues can inform how care coordination might be improved and embrace the needs and preferences of patients and families affected by rare conditions.

Keywords: Care coordination; Care coordinator; Care plan; Rare conditions; Rare diseases; Specialist centre; Survey.

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Conflict of interest statement

HW, PLN, LSC, NJF, JK, LK, MK, KLB, SP, AIGR, A Sutcliffe, CT, SM authors declare that they have no competing interests. A Simpson, JJ and AH are employees of Genetic Alliance UK. Genetic Alliance UK runs Rare Disease UK—a campaign for people with rare diseases and all who support them.

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References

1. Rare Disease UK. What is a Rare Disease? www.raredisease.org.uk/what-is-a-rare-disease/. Accessed 17 Jan 2021.
1. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–173. doi: 10.1038/s41431-019-0508-0. - DOI - PMC - PubMed
1. European Commission. EU Research on Rare Diseases. https://ec.europa.eu/info/researchand-innovation/research-area/health-re.... Accessed 17 Jan 2021.
1. Walton H, Hudson ME, Simpson A, Ramsay AI, Kai J, Morris S, Sutcliffe AG, Fulop NJ. Defining coordinated care for people with rare conditions: a scoping review. Int J Integr Care. 2020;20(2):14. doi: 10.5334/ijic.5464. - DOI - PMC - PubMed
1. Rare Disease UK. The rare reality—an insight into the patient and family experience of rare disease. 2016. www.raredisease.org.uk/media/2361/patient-experiences-2015.pdf. Accessed 22 Oct 2021.

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[1] Rare Disease UK. What is a Rare Disease? www.raredisease.org.uk/what-is-a-rare-disease/. Accessed 17 Jan 2021.

[2] Rare Disease UK. What is a Rare Disease? www.raredisease.org.uk/what-is-a-rare-disease/. Accessed 17 Jan 2021.

[3] Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–173. doi: 10.1038/s41431-019-0508-0. - DOI - PMC - PubMed

[4] Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–173. doi: 10.1038/s41431-019-0508-0. - DOI - PMC - PubMed

[5] European Commission. EU Research on Rare Diseases. https://ec.europa.eu/info/researchand-innovation/research-area/health-re.... Accessed 17 Jan 2021.

[6] European Commission. EU Research on Rare Diseases. https://ec.europa.eu/info/researchand-innovation/research-area/health-re.... Accessed 17 Jan 2021.

[7] Walton H, Hudson ME, Simpson A, Ramsay AI, Kai J, Morris S, Sutcliffe AG, Fulop NJ. Defining coordinated care for people with rare conditions: a scoping review. Int J Integr Care. 2020;20(2):14. doi: 10.5334/ijic.5464. - DOI - PMC - PubMed

[8] Walton H, Hudson ME, Simpson A, Ramsay AI, Kai J, Morris S, Sutcliffe AG, Fulop NJ. Defining coordinated care for people with rare conditions: a scoping review. Int J Integr Care. 2020;20(2):14. doi: 10.5334/ijic.5464. - DOI - PMC - PubMed

[9] Rare Disease UK. The rare reality—an insight into the patient and family experience of rare disease. 2016. www.raredisease.org.uk/media/2361/patient-experiences-2015.pdf. Accessed 22 Oct 2021.

[10] Rare Disease UK. The rare reality—an insight into the patient and family experience of rare disease. 2016. www.raredisease.org.uk/media/2361/patient-experiences-2015.pdf. Accessed 22 Oct 2021.

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Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals

Affiliations

Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals

Authors

Affiliations

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Conflict of interest statement

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