JMIR Publications

ABSTRACT

Background:

People who live with rare diseases (RDs) comprise a large vulnerable population. The impact of COVID-19 on this population is largely unknown.

Objective:

To describe COVID-19 infection and its variation across RD subgroups, determine whether COVID-19 changed RD symptoms and treatment, and understand the impact of the pandemic on respondents and their families.

Methods:

We conducted an online cross-sectional survey of eligible individuals (who live in the USA, have a RD, and are <90 years old) between May 2 and December 15, 2020. The survey investigated pandemic-related changes in COVID-19 symptoms, self-reported COVID-19 infection, RD symptoms and medications, access to care, psychological impact on self and family. We analyzed these changes by RD subgroup, RD comorbidity, self-reported COVID-19 infection.

Results:

The respondents were largely female (N=2,212, 65%), White (N=3,038, 91%), >=25-year-old (N=2,646, 78%). Overall, 2,751 (81%) did not acquire COVID-19, 71 (2%) acquired it, and 566 (17%) did not know. COVID-19 cases were twice the number expected from population incidence rates (71 vs. 36, P<.0001). COVID-19 was associated with specific symptoms (strongest: loss of taste OR=38.9, CI=22.4-67.6, loss of smell: OR=30.6, CI=17.7-53.1) and multiple symptoms (>9 symptoms vs. none: OR=82.5, CI=29-234; 5-9: OR=44.8, CI=18.7-107). COVID-19 cases more often reported RD comorbidities (OR=1.60, CI=1.00-2.50). COVID-related symptoms lasted on average <30 days. Hospitalization (N=7, 10%) and mechanical ventilator support (N=4, 6%) were uncommon. They reported increased occurrence/severity of RD symptoms and use/dosage of select medications from before the beginning of the pandemic. Those who did not acquire COVID-19 reported decreases in occurrence/severity of RD symptoms and use of medications. Those who did not know their COVID-19 status reported intermediate outcomes. The pandemic made more difficult to access care, RD treatment and hospitalization, and caused mood changes for respondents and their family, requiring medical attention for some.

Conclusions:

Self-reported COVID-19 was more frequent than expected, and was associated with RD comorbidities, increased prevalence/severity of RD symptoms and greater use of certain medications. The pandemic negatively affected access to care and caused mood changes for respondents and family members. Continued surveillance is warranted.