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. 2024 Feb 14:10:e48430.
doi: 10.2196/48430.

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

Maurizio Macaluso  1   2 , Marc E Rothenberg  2   3 , Thomas Ferkol  4 , Pierce Kuhnell  1 , Henry J Kaminski  5 , David W Kimberlin  6 , Michael Benatar  7 , Mirna Chehade  8 ; Principal Investigators of the Rare Diseases Clinical Research Network – Cycle 4  9
Collaborators, Affiliations

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

Maurizio Macaluso et al. JMIR Public Health Surveill. .

Abstract

Background: 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).

Objective: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Keywords: COVID-19; COVID-19 infection; SARS-CoV-2; access; access to care; accessibility; changes in symptoms and use of medications; chronic; comorbid; comorbidity; coronavirus; cross-sectional; cross-sectional survey; national; nationwide; psychological impact on self and family; rare; rare diseases; survey; surveys; vulnerable.

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Conflict of interest statement

Conflicts of Interest: MER is a consultant for Pulm One, Spoon Guru, ClostraBio, Serpin Pharm, Allakos, Celldex, Nextstone One, Bristol-Myers Squibb, Astra Zeneca, Ellodi Pharma, GlaxoSmith Kline, Regeneron or Sanofi, Revolo Biotherapeutics, and Guidepoint; has an equity interest in the first 7 organizations listed; and has received royalties from reslizumab (Teva Pharmaceuticals), PEESSv2 (Mapi Research Trust), and UpToDate. MER is an inventor of patents owned by Cincinnati Children’s Hospital. TF has National Institutes of Health (NIH) grant funding (HL096458, TR003860, AI146999, and HL125241) and received support from Parion Sciences and ReCode Therapeutics for clinical drug trial and observational study. He is a member of the ReCode Therapeutics Primary Ciliary Dyskinesia Clinical Steering Committee and has served as a consultant for TranslateBio and Arrowhead Pharmaceuticals. HJK is a consultant for Roche, Merck Serono, Cabeletta Bio, and UCB Pharmaceuticals and is the Chief Executive Officer and Chief Medical Officer of ARC Biotechnology, LLC, based on US Patent 8,961,98. HJK is the principal investigator of the Rare Disease Network for Myasthenia Gravis (MGNet), funded by National Institute of Neurological Disorders & Stroke (U54 NS115054) and of Targeted Therapy for myasthenia gravis (R41 NS110331). HJK is also coinvestigator for MV2C2 antibody as a new therapeutic for myasthenia gravis (R43NS124329). DWK is a site PI on a Gilead-sponsored study of remdesivir in pediatric patients. All money goes directly to his university (University of Alabama at Birmingham). MB is a consultant for Alector, Annexon, Arrowhead, Biogen, Denali, Novartis, Orphazyme, Roche, Sanofi, and UniQure. He has a provisional patent for determining the onset of amyotrophic lateral sclerosis. He has received research funding from the NIH and the Muscular Dystrophy Association and serves on the Board of Trustees for the Amyotrophic Lateral Sclerosis Association. MC is currently a consultant for Regeneron, Adare or Ellodi, Astra Zeneca, Sanofi, and Bristol-Myers Squibb. Previously, she was a consultant for Allakos, Shire or Takeda, and Phathom. She currently receives research funding from Regeneron, Allakos, Shire or Takeda, AstraZeneca, and Adare or Ellodi and has received funding from Danone. All other authors declare no other conflicts of interest.

Figures

Figure 1
Figure 1
National survey of the impact of the COVID-19 pandemic on people with rare diseases (May 2, 2020, to December 15, 2020; N=3413). Number of self-reported COVID-19 cases by month, compared with the numbers expected on the basis of the monthly incidence rates reported by the New York Times for the entire US population.
Figure 2
Figure 2
National survey of the impact of the COVID-19 pandemic on people with rare diseases (RDs; May 2, 2020, to December 15, 2020; N=3413). Heat map of pandemic-associated changes in the prevalence of COVID-19 symptoms. Statistical significance of item-specific changes based on an exact binomial test of the null hypothesis that positive changes (ie, symptom appearing or increasing in intensity and medication starting or dosage increasing during the pandemic) were equal in number to negative changes (ie, symptom disappearing or decreasing in intensity and medication discontinued or dosage decreasing during the pandemic). Respondents are categorized according to their answer to the question “Did you acquire COVID-19?”. Blue boxes indicate statistically significant decrease; grey boxes indicate statistically non-significant change; red boxes indicate statistically significant increase.
Figure 3
Figure 3
National survey of the impact of the COVID-19 pandemic on people with rare diseases (May 2, 2020, to December 15, 2020, N=3413). Heatmap of pandemic-associated changes in the prevalence and intensity of RD-associated symptoms. Statistical significance of symptom-specific changes based on an exact binomial test of the null hypothesis that positive changes (ie, symptom appearing or increasing in intensity during the pandemic) were equal in number to negative changes (ie, symptom disappearing or decreasing in intensity during the pandemic). Respondents are categorized according to their answer to the question “Did you acquire COVID-19?”. Blue boxes indicate statistically significant decrease; grey boxes indicate statistically non-significant change; red boxes indicate statistically significant increase; white boxes indicate inadequate data.
Figure 4
Figure 4
National survey of the impact of the COVID-19 pandemic on people with rare diseases (May 2, 2020, to December 15, 2020, N=3413). Heatmap of pandemic-associated changes in use and dosage of medications. Statistical significance of item-specific changes based on an exact binomial test of the null hypothesis that positive changes (ie, medication starting or dosage increasing during the pandemic) were equal in number to negative changes (ie, medication discontinued or dosage decreasing during the pandemic). Respondents are categorized according to their answer to the question “Did you acquire COVID-19?”. Blue boxes indicate statistically significant decrease; grey boxes indicate statistically non-significant change; red boxes indicate statistically significant increase; white boxes indicate inadequate data.
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