Patient and family characteristics
Twelve families of patients with autoinflammatory diseases participated in this study from August to November 2015. Families included 4 patients with TRAPS, 5 with MKD/HIDS, and 5 with FMF (n = 5); two families had multiple afflicted siblings. Patients’ ages ranged from 1 to 28 years and all were from the United States. The time to diagnosis varied from 2.5–24 years; in patients whose siblings or other family members had already been diagnosed, the time to diagnosis was shorter. The age (median [min- max]) at diagnosis was 4 (3–10), 4.5 (1–15) and 3 (2–16) years for TRAPS, FMF and HIDS patients, respectively. Patients were currently receiving or had previously been treated with one or more of the following medications: colchicine, anakinra, canakinumab, tocilizumab, and anti-TNF agents (etanercept, adalimumab, and certolizumab).
Parents’ perceptions pre-diagnosis
Children with AIDs in this study appeared healthy during their early childhood, with most meeting early developmental milestones. Childhood illnesses emerged but rarely raised the alarm for the parents (Fig. 1a). Owing to the nonspecific nature of the symptoms, physicians tended to look for easily explainable causes such as recurrent viral illnesses. Many parents reported receiving simple explanations from their physicians that later turned out to be misdiagnoses (Fig. 1b). Worsening patterns of illness over time increased parents’ anxiety, and they became increasingly fearful and confused. Figure 1c provides an example of one such parent who stopped accepting her pediatrician’s explanations and began looking for her own answers to her child’s symptoms. First-time parents indicated that they had an especially difficult time recognizing that their child’s symptoms could be more than a common viral illness. Most parents (86%) reported that they only realized that something was seriously wrong with the health of their child after a severe medical emergency and/or hospitalization (Fig. 1d). Furthermore, many patients and their parents reported that they held on to their memories of what life was like before the onset of symptoms and mourned their subsequent loss of “normalcy.”
Difficulties in establishing the diagnosis of AIDs
Parents encountered medical “merry-go-rounds” involving many specialist visits and diagnostic tests (Fig. 2a). For many, the diagnostic path included several specialist visits, long wait times for appointments, extensive testing, and 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. The most common misdiagnoses by general pediatricians included common cold, food allergy, hay fever, and varicella. Payors and health plans for several patients limited specialist visits, explaining that fevers are not notable causes of long-term damage, as well as the absence of confirmed diagnoses. Most parents (92%) 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. Many parents stated that they lost self-confidence and began doubting their own judgment as it pertained to their child’s health (Fig. 2b). The feeling of lost confidence was further compounded by frustrations caused by an arduous and inconclusive diagnostic process. Many parents (generally mothers) began to question their own mental health and wondered if the symptoms were indeed real or if they were imagining things. As shown in Fig. 2c, some parents had to become their own advocate, and most parents felt that a physician advocate (a particularly engaged and proactive pediatrician, pediatric nurse, or pediatric rheumatologist) helped them to arrive at a diagnosis.
The emotional impact of AIDs on children and their families
While an accurate diagnosis provided vindication and relief, parents reported that it also led to further unanswered questions (Fig. 3a). Figure 3b shows that some parents had difficulties explaining the disease to their children in an age-appropriate manner. Some children with AIDs drew monsters when asked to depict how they felt about their disease (Fig. 3c, d).
Children with AIDs and their families experienced isolation (Fig. 3e). Parents reported that they remained hypervigilant (Fig. 3f) regarding their child’s health and lived in constant anticipation of the next flare, irrespective of the success of their current therapy. Parents perceived the next flare as being “always around the corner.”
Parents’ and patients’ experiences of daily symptoms
Many patients (64%) reported the presence of disease symptoms between flares (Fig. 4a) despite receiving medications. These included myalgias, lymphadenopathy, aphthous ulcers, fatigue, and gastrointestinal symptoms. Daily symptoms persisted in some patients irrespective of flares and independent of fevers. Parents expressed little hope of improving these daily symptoms and reported that they were frustrated with physicians’ inability to acknowledge symptoms between disease flares, which the parents considered to be related to the disease. Also, children with AIDs continued to suffer from common childhood illnesses, and many parents struggled to differentiate these from AID flares (Fig. 4b). Parents also commented that physicians in the emergency department, primary care providers, and other specialists also struggled to assess the condition of their children. Many parents developed an aversion to seeking medical care from providers who lacked education around AIDs and their management.
Uncertainty post-diagnosis
Parents reported the need to coordinate the process of care between their child’s pediatrician, specialists, school nurses, and others (Fig. 5). After diagnosis, many parents concluded that the feelings of uncertainty was a hallmark of AIDs, which was one of the most emotionally challenging factors for them and their children (Fig. 6).
