Boston Children's Hospital, Boston, MA, 02115, USA.
Beth Israel Deaconess Medical Center, Boston, MA, 02215, USA.
Orphanet J Rare Dis. 2018 Sep 6;13(1):156. doi: 10.1186/s13023-018-0902-7.
Limited data are available on the experiences of patients with autoinflammatory diseases (AIDs) and their families along the path to diagnosis and treatment. We sought to describe these experiences in patients with AIDs including tumor necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS), and familial Mediterranean fever (FMF).
Ninety-minute, semi-structured qualitative interviews and 5-day written/video diaries were used to gather information on the experiences of patients with AIDs and their families.
Twelve families of patients from the US (TRAPS [n = 4], MKD/HIDS [n = 5], FMF [n = 5]) participated in this study from August to November 2015. The study included two families with multiple afflicted siblings. Patients' ages ranged from 1 to 28 years. Most parents reported realizing that something was seriously wrong with their child after medical emergencies and/or hospitalizations, which initiated the difficult path to diagnosis. For most, the process included multiple specialist visits, extensive and repeated testing, and many misdiagnoses. Over time, 92% of parents reported losing confidence in the healthcare system's ability to find an answer to their child's symptoms, while they also struggled with unsupportive school personnel and dismissive friends and relatives. Patients and their parents reported holding on to memories of "what life was like" before the onset of symptoms and mourning their subsequent loss of "normalcy." Even after diagnosis, patients and parents continued to feel uncertain about what to expect in the future.
All families emphasized the need for efficient early diagnosis of AIDs. Initiatives that improve the speed and accuracy of diagnosis, provide more comprehensive patient education, and support patients and families through the illness have the potential to significantly improve the quality of life of patients with AIDs and their families. Healthcare providers should be aware of the impact of the long diagnostic journey on families and work to create an environment of trust and collaboration in the face of a difficult and prolonged diagnostic process.
关于自身炎症性疾病（AIDs）患者及其家庭在诊断和治疗过程中的经历，相关数据有限。我们旨在描述包括肿瘤坏死因子受体相关周期性综合征（TRAPS）、甲羟戊酸激酶缺乏/高免疫球蛋白 D 综合征（MKD/HIDS）和家族性地中海热（FMF）在内的 AIDs 患者的这些经历。
采用 90 分钟半结构式定性访谈和 5 天书面/视频日记的方式，收集 AIDs 患者及其家庭的经历信息。
2015 年 8 月至 11 月，美国共有 12 个 AIDs 患者家庭（TRAPS[4 例]、MKD/HIDS[5 例]、FMF[5 例]）参与了这项研究，患者年龄 1 至 28 岁，其中 2 个家庭有多个患病的兄弟姐妹。大多数父母表示，他们在孩子经历医疗紧急情况和/或住院后，意识到孩子的身体出了大问题，这才开始了艰难的诊断之路。对大多数人来说，这个过程包括多次专科就诊、广泛且重复的检查以及多次误诊。随着时间的推移，92%的父母表示对医疗保健系统找到孩子症状答案的能力失去了信心，同时他们还面临着不支持的学校人员和冷漠的朋友和亲戚。患者及其父母表示，他们会一直记得发病前的“生活是什么样的”，并为随后失去“正常生活”而感到悲痛。即使在确诊后，患者及其父母仍对未来感到不确定。
所有家庭都强调需要高效的早期 AIDs 诊断。能够提高诊断速度和准确性、提供更全面的患者教育以及在疾病过程中为患者及其家庭提供支持的举措，有可能显著提高 AIDs 患者及其家庭的生活质量。医疗保健提供者应意识到漫长诊断过程对家庭的影响，并努力在面临困难和漫长的诊断过程时营造信任和合作的环境。
