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.

中文翻译：

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巴西罕见病社​​区的 SARS-CoV-2 大流行：患者报告调查

COVID-19 大流行导致卫生系统重组，以优先抗击病毒。保持社交距离的做法干扰了现有政策的实施，因此可能对最脆弱的群体产生负面影响，例如罕见病社区。为了描述对 COVID-19 对巴西罕见病社​​区医疗保健影响的看法，一份针对罕见病患者及其护理人员的在线问卷于 2020 年 6 月 1 日至 7 月 5 日在巴西境内分发。这些问题涉及所采取的卫生措施；获得医疗服务；以及疫情期间的精神痛苦。该调查由代表 192 种罕见疾病的 1,466 名参与者（<18 岁 = 53.3%）回答。关于身体距离，1,372 (93. 6%) 参与者没有离开住所，或仅在必要时才离开；1,321 (90.1%) 人离开家时总是戴口罩。分别有 1,042 名 (71.1%) 和 995 名 (67.9%) 参与者推迟/取消了转诊的医学遗传学预约和康复治疗。1,026 (70%) 人体验了远程医疗，68.3% 的人同意这是一个很好的医疗保健策略。先天性代谢错误（IEM，n  = 624, 42.5%) 似乎比非 IEM 组更容易获得信息和克服困难的能力，并且感觉更少的威胁、孤独和沮丧 ( p  < .05)。在大流行情况下，罕见病患者的脆弱性有所增加。患者/护理人员的合作以及卫生系统的适应至关重要，甚至在大流行后也可能如此。