The patient journey to diagnosis and treatment of autoinflammatory diseases

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 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.

Keywords: Autoinflammatory diseases; Disease experience; Parent experience; Patient journey; Psycho-social dynamics.

Fig. 1

Quotes from parents of children with AIDs on difficulties experienced prior to receiving a diagnosis. Parent perceptions included: a Their child had an intermittent illness; b They were given simple explanations from doctors that were misdiagnoses; c They suffered from increased anxiety with worsening of their child’s illness; d They struggled to find answers. AIDs, autoinflammatory diseases

Fig. 2

Quotes from parents of children with AIDs on the difficulties experienced during diagnosis. Challenges experienced during diagnosis included: a Parents encounter the medical “merry-go-round”; b Parents encounter unsympathetic voices on the path to diagnosis; c Families required a physician advocate to get their child diagnosed. AIDs, autoinflammatory diseases

Fig. 3

Quotes from parents of children and drawing from patients with AIDs on emotional aspects. Emotional impact on the patients and their parents included: a After diagnosis, several questions remained unanswered from the parents’ perspective; b Parents had difficulty in explaining the disease to their children; c Patient’s perception of their mother’s explanation of HIDS: “Soldiers in your body fight imaginary germs;” d Drawings by patients with AIDs in response to how they perceive their disease; e Children with AIDs and their families experienced overwhelming isolation; f Parents remained hypervigilant about their child’s health. HIDS, hyperimmunoglobulin D syndrome; AIDs, autoinflammatory diseases

Fig. 4

Quotes from parents of children and patients with AIDs on the difficulties experienced post-diagnosis. Difficulties encountered by parents and patients included: a Some patients experienced daily symptoms; b Parents struggled to differentiate routine childhood illnesses from AIDs. FMF, familial Mediterranean fever; HIDS, hyperimmunoglobulin D syndrome; AIDs, autoinflammatory diseases

Fig. 5

Quotes from mothers of children with AIDs on the responsibilities taken for their child’s care. AIDs, autoinflammatory diseases

Fig. 6

Quotes from children with AIDs and their parents on the uncertainty that pervades their lives. AIDs, autoinflammatory diseases