key: cord-0741179-3ufxe1pw authors: Schwartz, Ida Vanessa Doederlein; Randon, Dévora Natalia; Monsores, Natan; Moura de Souza, Carolina Fischinger; Horovitz, Dafne Dain Gandelman; Wilke, Matheus Vernet Machado Bressan; Brunoni, Decio title: SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey date: 2021-01-20 journal: Am J Med Genet C Semin Med Genet DOI: 10.1002/ajmg.c.31883 sha: 72301248a5d931f41c372d218c199d979a3641df doc_id: 741179 cord_uid: 3ufxe1pw The COVID‐19 pandemic has led to a reorganization of health systems to prioritize the fight against the virus. The adoption of social distancing interfered with the flow of existing policies, and may thus negatively affect the most vulnerable groups, such as the rare disease community. Aimming at characterizing the perception of the impact of COVID‐19 on the health care of the Brazilian rare disease community, an online questionnaire addressed to patients with rare diseases and their caregivers was disseminated in the Brazilian territory between June 1st to July 5th, 2020. The questions dealt with the sanitary measures adopted; access to medical services; and mental suffering during the pandemic. The survey was answered by 1,466 participants (<18 yo = 53.3%) representing 192 rare diseases. Regarding physical distancing, 1,372 (93.6%) participants did not leave their residence, or did so only when essential; 1,321 (90.1%) always wore masks when leaving home. 1,042 (71.1%) and 995 (67.9%) participants, respectively, referred medical genetics appointments and rehabilitation therapies were postponed/canceled. Telemedicine was experienced by 1,026 (70%), and 68.3% agreed this is a good strategy for health care. Patients with Inborn Errors of Metabolism (IEM, n = 624, 42.5%) appear to have more access to information and ability to overcome difficulties, and feel less threatened, lonely and depressed than the non‐IEM group (p < .05). There was an increment of the rare disease patients' vulnerability in the pandemic scenario. The cooperation of patients/caregivers along with adaptation of the health system is crucial and may be so even post‐pandemic. The COVID-19 pandemic, in addition to transforming people's daily lives and shaking the world economy, brought new challenges for various sectors, including education and health. Concerns about the effect of the pandemic in the rare disease community have also been expressed. As an example, there is the statement "31 March, Paris-EURORDIS-Rare Diseases Europe is alarmed by reports from member organizations and individuals that people living with a rare disease are being discriminated against in critical care guidelines" (EURORDIS, 2020a) . Some papers highlighted health-care concerns for individuals with rare or uncommon genetic diseases such as deaf children (Pattisapu et al., 2020) ; care of patients with Duchenne, Becker, and other muscular dystrophies (Veerapandiyan et al., 2020) ; Down Syndrome (Cammarata-Scalisi, Tadich, Medina, & Callea, 2020); Epidermolysis Bullosa (Murrell et al., 2020) . The French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) has established guidance in an attempt to homogenize the management of neuromuscular (NM) patients within the French territory; the main concern was with management of the interruption of physical therapy support (Solé et al., 2020) . Guidelines for patients with inherited cardiomyopathies and channelopathies were detailed by Limongelli and Crotti (2020) . Some publications were made available also in Brazil to educate rare disease patients and caregivers about COVID-19 (BRASIL, 2020a; FEBRARAS & Observatório de Doenças Raras, 2020; SBGM, 2020). The first notification of a confirmed case of COVID-19 in Brazil was on February 26, 2020. Between March and July 2020, the conduct of the fight against COVID-19 was intensely politicized (Campos, 2020) . The Minister of Health was replaced three times. Disagreements between state governors and the federal government have become public. There was no adequate understanding about protocols or the impact of social distancing measures on schools and commercial or industrial activity. And the spread of fake news, the use of drugs without evidence for the treatment of COVID-19 and scientific denialism contributed to the population's doubts, fears and uncertainties (Campos, 2020) . In order to provide a panorama about the actions taken to face the COVID-19 epidemic in Brazil, we highlight that the Brazilian health system has peculiar characteristics: it is a public, regionalized and hierarchical system. This means there are significant differences in public health actions between the three levels of government in the country. Social distancing measures, interruption of services and testing of the population varied widely, depending on the region (Baqui, Bica, Marra, Ercole, & van der Schaar, 2020) . It is also important to remember that the Brazilian epidemiological scenario is complex. In addition to public health management issues, the country has other An online survey addressed to patients/caregivers with rare diseases was widely disseminated through social media in Brazil between June first to July fifth, 2020. Caregivers were so considered when living in the same house as the patient. The questionnaire was adapted from the EURORDIS English (2) sanitary measures adopted and perception of the level of health threat; (3) access to services and support; (4) infection by SARS-CoV2; (5) mental and social status. The questionnaire is available for consultation upon request. The sample size was calculated to take in account the estimate that between 3.5% and 5.9% of the population is affected by rare diseases (Nguengang Wakap et al., 2020) . Brazil has about 212 million inhabitants, which means between 7.4 and 12.5 million Brazilians may have some rare disease. We estimated a minimum of 384 individuals for confidence level 95% and a margin of error of 5%. To get a higher number of answers, national rare diseases patient and family associations were contacted and asked to help in the dissemination of the questionnaire. Physicians from all over the country, who were known to deal with rare diseases, were also contacted. One thousand six hundred and five (n = 1,605) replies were obtained. Out of them, 139 (8.7%) were excluded for different reasons: (1) the patient was mentioned as not having a rare disease (n = 45); (2) the same participant answering more than one form (n = 35); (3) the patient had no diagnosis (n = 15); (4) other reasons (n = 44). Hence, a total of 1,466 participants from the five different Brazilian Regions were included (North, Northeast, Center-West, Southeast and South) ( Figure 1 ). The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. A descriptive statistical analysis was carried out and categorical variables were presented as counts and percentages. To analyze the answers, we cross-tabulated the recorded data, grouping the answers according to etiology of the rare disease (genetic or non-genetic), type (Table 3) . When comparing patients with IEM and non-IEM, there were no significant differences regarding the perception of individual threat (p = .300) or familial threat (p = .760). But for the questions that assessed the parent's threat level (if the patient feels responsible for some level of risk for his parents) and access to information, there is a significant difference between populations (p = .019 and p = .002, respectively), i.e., non-IEM patients experience higher levels of menace to their parents and a lack of access to information (Figure 2 ). Disease groups corresponding to a minimum of 30 participants were cited individually. Almost all participants (98.8%) answered there was some interruption of the public health services they needed during the pandemic. Only 159/1,322 (12.0%) of the survey participants were tested for COVID-19-PCR and/or antibodies testing (due to symptoms = 65, or to exposure to the virus = 47; for being in the high-risk group = 47). Among the non-tested (n = 1,163/1,322, 88.0%), 467 (40.1%) believe they should have been tested. When data are aggregated by region and by disease group (IEM vs. non-IEM), there were no significant differences between regions, but there were some differences between groups. Non-IEM had worse results in terms of "quality of life", reporting not being able to overcome the difficulties (p = .029), more feelings of loneliness or isolation (p = .018), unhappiness or depression (p = .001) and tension between family members (p = .005) (Figure 2 ). At the end of April, Brazil performed only 0.63 tests per 1,000 inhabitants, while Italy, for example, tested 23.64 (Barrucho, 2020) . In this survey, 12.0% (1.2/1,000) of participants were tested for COVID-19, that is, the testing rate in the population of people with rare diseases may be higher than the population in general. And about 1.2% (1,200/100,000) were hospitalized, a value similar to the estimated incidence for COVID-19 in Brazil during the survey period. Unfortunately, this study did not collect data on the number of positive tests for COVID-19, nor on the mortality rate for COVID-19 in the rare disease community. In addition to the epidemiological variables, some of the socioeconomic aspects assessed in the research can be highlighted. Worldwide, unemployment rates increased due to the closure of several productive sectors and the necessary measures of social distancing. According to IBGE (2020b), in July 2020, the unemployment rate in Brazil was 13.8%. Only 43.3% participants of the survey made reference to being employed, 9.3% retired, and 5.3% students, which means that 42.1% of the participants have no formal income. This can be an important indicator and it can point to the need for socioeconomic support mechanisms to be directed to these families. The impoverishment of these families becomes an important factor of vulnerability in a country that presents great social inequalities. In Brazil, health care is public, universal and free, but it will be necessary to develop strategies that can mitigate the effects of the COVID-19 pandemic, in a syndemic approach (Horton, 2020) . Our data regarding interruption of treatment in rare diseases showed a lot of similarity to the data found in the EURORDIS study. Virtually all patients reported interruption of treatment and a sense of threat to their health associated with a pandemic. On the other hand, the telemedicine strategy adopted by some regions reduced the difficulties in accessing information and health care, having been a positive aspect and was well accepted by patients and caregivers. T A B L E 4 Summary of participants (patients with rare diseases and their family members) who were hospitalized with COVID-19 (n = 17) a A look at some aspects of quality of life and mental health of the participants shows that a certain degree of pessimism and mental suffering affected the patients, and this situation has been reported for other forms of chronic illness worldwide (Chudasama et al., 2020) . Despite the relative access to information and care mediated by tele- Union, found that the rate of infection in this population was lower than that of general European population; they pointed out that IEM health-care providers and organization of patients were able to work quickly and effectively together to support and protect this group of patients. We believe that this may have also happened in Brazil, explaining the differences found among the IEM and non-IEM group. Although there are many organizations for rare disorders in the country, those ones dealing with IEM are still the majority and the betterorganized ones. All the collected information consisted of self-reported data from the survey participants and may contain potential sources of bias. The Our data is in accordance with the findings of a similar research conducted in Europe, and confirms that policy makers and authorities around the world cannot leave behind people living with rare diseases, especially during the pandemic and the post-pandemic periods. We also believe that our data reflect the characteristics of the health system inequality in different regions of Brazil. It also surprisingly demonstrated how people and their caregivers managed to remain in social isolation and follow health recommendations as a natural mechanism of self-protection. This certainly helped prevent more cases and higher mortality in the group. The fact that there is no precedent for a pandemic in contemporary times has left the health system more fragile and with difficulties of immediate reaction. This fact contributed to the delay in effective measures such as tele-attendance, tele consults, home visits by the health-care team. Such measures will remain an important tool in health care in the present and the future, especially for people affected by rare disorders. We acknowledge all the participants of the study, the health professionals who kindly helped us in disseminating the questionnaire, and EURORDIS for allowing translation and adaptation of the original questionnaire to Portuguese. We especially thank Dr. Taiane All authors declare that they have no conflict of interest. The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. Ida Vanessa Doederlein Schwartz https://orcid.org/0000-0002-7933-6687 Ethnic and regional variations in hospital mortality from COVID-19 in Brazil: A cross-sectional observational study. The Lancet Global Health Brasil é um dos países que menos realiza testes para covid-19, abaixo de Cuba e Chile. BBC News Brasil Ministério da Saúde. Portaria GM/MS n 199, de 30 de janeiro de 2014. Diretrizes para Atenção Integral às Pessoas com Doenças Raras no Sistema Único de Saúde -SUS Conselho Nacional de Desenvolvimento Científico e Tecnológico. Chamada CNPq/MS/SCTIE/DECIT N 25/2019 -Inquérito sobre Perfil de Doenças Raras no Brasil Ministério da Mulher, da Família e dos Direitos Humanos Ministério da saúde -Painel Coronavírus Ministério da Saúde. SVS Coronavirus Disease Boletim Epidemiológico Especial -Doença pelo Coronavírus COVID-19 -Semana Epidemiológica 30 (19 a 25/07 Recomendação n 031, de 30 de abril de 2020. 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