Background Patients with the rare autoinflammatory diseases of Familial Mediterranean Fever (FMF), mevalonate kinase deficiency (MKD)/Hyperimmunoglobulin D syndrome (HIDS), and tumor necrosis factor receptor-associated periodic syndrome (TRAPS) often have long diagnostic journeys. Patient and family experiences along this path to diagnosis are poorly understood.
Objectives To understand the experiences of patients and families with autoinflammatory diseases through diagnosis and treatment.
Methods We employed 90-minute semi-structured qualitative interviews and 5-day written/video diaries of patients and families with autoinflammatory diseases.
Results Twelve US families participated in the fall of 2015 including 4 TRAPS patients, 5 MKD/HIDS patients, and 5 FMF patients. The patients' ages ranged from 1–28 years. Caregivers reported an insidious onset of symptoms, but were initially reassured by their healthcare providers (HCPs) that symptoms were related to normal childhood illnesses. Most parents in this study (86%) realized that something was seriously wrong only after medical crises and hospitalizations. The diagnostic path began in earnest then, including many specialist visits (often with long waits for appointments), extensive testing, and many misdiagnoses including Lyme disease, meningitis, H1N1 influenza, systemic lupus erythematosus, systemic juvenile idiopathic arthritis, atypical Kawasaki's disease, leukemia, lymphoma, bone cancer, and Crohn's disease. Most parents (92%) lost faith in the medical system's ability to find an answer to their children's symptoms, while they also struggled with unsupportive school officials and dismissive friends and relatives. Parents and patients frequently felt a loss of self-confidence and increasing alienation in the face of criticism and disbelief. Patients and caregivers report holding onto a memory of what normal life was like prior to the onset of symptoms, and mourning their subsequent loss of normalcy. Receiving the diagnosis of an autoinflammatory disease provided vindication and relief, as well as a focus for further education and treatment. Even after diagnosis, patients and caregivers reported continuing confusion about what to expect in the future. Many (64%) reported disease symptoms between flares that were rarely recognized as such by their HCPs. Uncertainties about their diseases led patients and caregivers to seek online support communities, but struggled finding patients whose symptoms mirrored their own.
Conclusions Patients with autoinflammatory diseases often encounter long diagnostic delays, causing significant stress and confusion for the patient and their families. Distrust of the medical establishment may persist even after diagnosis. Loss of normalcy is a core tragedy for many families. Confusion and uncertainty continue to mark these families' lives, even after diagnosis. Initiatives that improve the speed and accuracy of diagnosis, provide more comprehensive patient education, and support patients and their families through their illness have the potential to greatly improve the lives of patients with autoinflammatory diseases.
Disclosure of Interest J. Hausmann Consultant for: Novartis, K. Lomax Employee of: Novartis, A. Shapiro Consultant for: Novartis, K. Durrant: None declared