Rare disease is a disastrous hit to the suffering children and their families as well as a cause of disability, which should be paid more attention to handle. Based on questionnaire of rare disease patients’ living conditions and interviews with families with rare disease children, this paper found out that many complicated and heavy burdens were faced by these families. Pressures were from multiple ecological systems including disease itself, early treatment, rehabilitation, physical and emotional burdens of cares, family economic conditions, relation between doctor and patient, medical security, attending school and employment and social participation, which covered disease diagnosing, crisis dealing, chronic persistent period, terminal stage. Therefore, more targeted professional support and service measures should be studied and implemented.%儿童罕见病对患儿和家庭带来了灾难性的冲击，也是致残的原因之一，应当引起有关方面的充分关注并予以有效应对。通过罕见病患者生存状况问卷调查及对罕见病儿童家庭进行的深度访谈可知，罕见病儿童家庭面临着诸多复杂且沉重的压力，包括来自疾病本身、早期疗育、康复、照顾者身心负荷、家庭经济状况、医护关系、医疗保障、就学就业、社会参与等多生态系统在内，涵盖疾病诊断、危机应对、慢性持续期及临终等各个方面，需要研究制定针对性的专业化支持与服务措施。
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