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Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey.

  • Macaluso, Maurizio1, 2
  • Rothenberg, Marc E2, 3
  • Ferkol, Thomas4
  • Kuhnell, Pierce1
  • Kaminski, Henry J5
  • Kimberlin, David W6
  • Benatar, Michael7
  • Chehade, Mirna8
  • 1 Division of Biostatistics and Epidemiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States. , (United States)
  • 2 Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, United States. , (United States)
  • 3 Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States. , (United States)
  • 4 Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States. , (United States)
  • 5 Department of Neurology and Rehabilitation Medicine, George Washington University, Washington, DC, United States. , (United States)
  • 6 Division of Pediatric Infectious Diseases, University of Alabama at Birmingham, Birmingham, AL, United States. , (United States)
  • 7 Department of Neurology, University of Miami, Miami, FL, United States. , (United States)
  • 8 Mount Sinai Center for Eosinophilic Disorders, Departments of Pediatrics and Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States. , (United States)
Published Article
JMIR public health and surveillance
Publication Date
Feb 14, 2024
DOI: 10.2196/48430
PMID: 38354030


With more than 103 million cases and 1.1 million deaths, the COVID-19 pandemic has had devastating consequences for the health system and the well-being of the entire US population. The Rare Diseases Clinical Research Network funded by the National Institutes of Health was strategically positioned to study the impact of the pandemic on the large, vulnerable population of people living with rare diseases (RDs). This study was designed to describe the characteristics of COVID-19 in the RD population, determine whether patient subgroups experienced increased occurrence or severity of infection and whether the pandemic changed RD symptoms and treatment, and understand the broader impact on respondents and their families. US residents who had an RD and were <90 years old completed a web-based survey investigating self-reported COVID-19 infection, pandemic-related changes in RD symptoms and medications, access to care, and psychological impact on self and family. We estimated the incidence of self-reported COVID-19 and compared it with that in the US population; evaluated the frequency of COVID-19 symptoms according to self-reported infection; assessed infection duration, complications and need for hospitalization; assessed the influence of the COVID-19 pandemic on RD symptoms and treatment, and whether the pandemic influenced access to care, special food and nutrition, or demand for professional psychological assistance. Between May 2, 2020, and December 15, 2020, in total, 3413 individuals completed the survey. Most were female (2212/3413, 64.81%), White (3038/3413, 89.01%), and aged ≥25 years (2646/3413, 77.53%). Overall, 80.6% (2751/3413) did not acquire COVID-19, 2.08% (71/3413) acquired it, and 16.58% (566/3413) did not know. Self-reported cases represented an annual incidence rate of 2.2% (95% CI 1.7%-2.8%). COVID-19 cases were more than twice the expected (71 vs 30.3; P<.001). COVID-19 was associated with specific symptoms (loss of taste: odds ratio [OR] 38.9, 95% CI 22.4-67.6, loss of smell: OR 30.6, 95% CI 17.7-53.1) and multiple symptoms (>9 symptoms vs none: OR 82.5, 95% CI 29-234 and 5-9: OR 44.8, 95% CI 18.7-107). Median symptom duration was 16 (IQR 9-30) days. Hospitalization (7/71, 10%) and ventilator support (4/71, 6%) were uncommon. Respondents who acquired COVID-19 reported increased occurrence and severity of RD symptoms and use or dosage of select medications; those who did not acquire COVID-19 reported decreased occurrence and severity of RD symptoms and use of medications; those who did not know had an intermediate pattern. The pandemic made it difficult to access care, receive treatment, get hospitalized, and caused mood changes for respondents and their families. Self-reported COVID-19 was more frequent than expected and was associated with increased prevalence and severity of RD symptoms and greater use of medications. The pandemic negatively affected access to care and caused mood changes in the respondents and family members. Continued surveillance is necessary. ©Maurizio Macaluso, Marc E Rothenberg, Thomas Ferkol, Pierce Kuhnell, Henry J Kaminski, David W Kimberlin, Michael Benatar, Mirna Chehade, The Principal Investigators of the Rare Diseases Clinical Research Network – Cycle 4. Originally published in JMIR Public Health and Surveillance (, 14.02.2024.

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