Article ; Online: The patient journey to diagnosis and treatment of autoinflammatory diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-
2018 Volume 7
Abstract: Abstract Background 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 ... ...
| Abstract | Abstract Background 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). Methods 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. Results 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. Conclusions 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 ... |
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| Keywords | Autoinflammatory diseases ; Patient journey ; Disease experience ; Psycho-social dynamics ; Parent experience ; Medicine ; R |
| Subject code | 610 ; 360 |
| Language | English |
| Publishing date | 2018-09-01T00:00:00Z |
| Publisher | BMC |
| Document type | Article ; Online |
| Database | BASE - Bielefeld Academic Search Engine (life sciences selection) |
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