# A shock to the (health) system: experiences of adults with rare disorders during the first COVID-19 wave

## TL;DR

This study explores how adults with rare diseases in the U.S. experienced healthcare and life changes during the first wave of the COVID-19 pandemic.

## Contribution

The paper provides new qualitative insights into the challenges and adaptations of a historically underserved group during the pandemic.

## Key findings

- Healthcare access and quality issues were the most frequently reported negative impacts.
- Telehealth expansion helped some participants access medical and mental health care more easily.
- Participants expressed hope that the pandemic would raise awareness of health inequities for people with rare diseases.

## Abstract

Before COVID-19, people with rare diseases (RD) experienced numerous disparities in quality of life and healthcare access and quality, yet little is known about the experiences of this underserved group during the pandemic.

During the first wave of the COVID-19 pandemic in the United States, spring and summer of 2020, 759 participants representing 231 unique RDs responded to open-ended questions about the impact of the pandemic on life with a RD, healthcare access, and coping. Qualitative conventional content analysis was used to analyze responses. Identified themes represented positive and negative dimensions of change, including a shock to the (health) system, coping with uncertainty, and the value of social support while isolated.

Limitations in healthcare access and quality were the most frequently described as impacts of COVID-19. Other major negative impacts included exacerbation of symptoms, psychological distress, and a lack of usual social support and reliable information. However, participants also noted silver linings, especially in healthcare. For some, expanded telehealth enhanced their ability to access medical and mental health providers and RD specialists. Finally, many participants hoped that, by highlighting social and health inequities faced by people with RDs and other minorities, the pandemic would prompt greater understanding and policies that could improve the quality of life of the RD community.

The online version contains supplementary material available at 10.1186/s13023-024-03033-z.