The impact of COVID-19 on patients affected by rare diseases and congenital disorders in South Africa: A scoping review

Authors

  • M C M Gomes Department of Clinical Medicine, Nelson R Mandela School of Medicine, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa
  • H L Malherbe Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa; Rare Diseases South Africa, Bryanston, South Africa https://orcid.org/0000-0002-9566-6248

DOI:

https://doi.org/10.7196/

Keywords:

rare diseases, congenital disorders, COVID-19 pandemic, disability

Abstract

Rare diseases (RDs) are individually rare but collectively common, affecting an estimated 1 in 15 individuals in South Africa (SA). Patients with an RD often face a long diagnostic odyssey (>5 years on average) and many obstacles in accessing healthcare. A scoping review was conducted to assess the impact of the COVID-19 pandemic on the SA RD community. Fourteen studies met the inclusion criteria and were explored using thematic analysis, which showed that RD patients were further marginalised during the pandemic, particularly in access to healthcare. Increased inclusivity in policy creation and integrated community-based healthcare are recommended to ensure that RD patients are not an afterthought in future crises.

Author Biographies

  • M C M Gomes, Department of Clinical Medicine, Nelson R Mandela School of Medicine, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa

    PhD student, College of Health Sciences, University of Kwazulu-Natal, South Africa

    M Gomes research focuses on genetic counselling, particularly for rare diseases, and developing an evidence base to motivate for inclusion of genetic counselling services at all levels of healthcare in South Africa. 

  • H L Malherbe, Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa; Rare Diseases South Africa, Bryanston, South Africa

    Extraordinary Associate Professor, Centre for Metabolomics, North-West University. Potchefstroom, South Africa

    Director of Research and Epidemiology, Rare Diseases South Africa (NPC) Bryanston, South Africa.

    H. Malherbe research focuses on developing an evidence-base related to improving services for those impacted by rare diseases and congenital disorders in South Africa including modelling to quantify the associated burden of disease and comparing the cost of key interventions related to the care and management of those impacted.

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Published

2024-09-02

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How to Cite

1.
Gomes MCM, Malherbe HL. The impact of COVID-19 on patients affected by rare diseases and congenital disorders in South Africa: A scoping review. S Afr Med J [Internet]. 2024 Sep. 2 [cited 2024 Sep. 14];114(9):e1795. Available from: https://samajournals.co.za/index.php/samj/article/view/1795

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