We conducted six focus groups averaging approximately four participants per group (26 participants in total) and ranging in duration from 1 h and 20 min to 2 h and 8 min (Table 1). The mean participant age was 53.5 years, and the majority were men (61.5%) and non-Hispanic White (77%). All participants had attended a college and 31% had graduate degrees. The average diagnostic delay was 12 years (appearance of first symptoms to diagnosis) (Table 2). Data saturation was attained as no new concepts were revealed in the final focus groups. With saturation, the sample size we achieved was determined to be sufficient.
Table 3 shows themes and representative quotes of the participants’ experiences organized across five topic areas: 1—experiences with clinicians; 2—symptoms of early disease; 3—common misdiagnoses; 4—self-advocacy; 5—human leukocyte antigen B27 (HLA-B27). In Table 3, participant quotes are identified by gender and age, and themes are italicized. Due to word limitations divergent cases are not provided.
Experiences with Clinicians
Many participants described long, circuitous diagnostic journeys. These journeys involved multiple clinicians, including primary care and specialist physicians, physical therapists, and chiropractors; however, most explicit comments about participant experiences focused on physicians. Some physicians used a trial-and-error approach to see if treatment with various medications might help in the absence of a clear diagnosis. Many participants described a variety of difficult experiences with doctors, ranging from minimizing or dismissing pain complaints to concluding that symptoms were “psychosomatic” or imaginary. Some physicians seemed to imply that the participant was trying to obtain narcotics or was “crazy.”
With a slowly progressing disease with symptoms that have no easily identifiable source patients strove to impress upon clinicians that something is genuinely wrong. Thus patients waited for a serious flare-up or used dramatic language to convey their distress (e.g., using a 1–10 pain scale, calling 10 “suicidal” [male aged 46]). Some participants reported an under-appreciation by physicians for symptoms that would come and go. These intermittent symptoms appeared to confuse some of their physicians and caused some patients to delay seeking care.
Participants repeatedly reported feeling neither “heard” nor believed. Their advice to physicians was straight-forward: allow patients to explain their symptoms, hear them, and believe them. Participants desired clinicians who were present and persistent, and who followed through to find an answer. Some participants described a fatigue after trying unsuccessfully to express concern about their symptoms or receive treatment. When doctors gave up on a patient’s diagnostic quest, it was experienced as profoundly negative.
Symptoms of Early Disease
Participants described a variety of early symptoms, primarily pain, that caused them to seek medical care. For some the onset of symptoms was gradual (a “pulled muscle” or what was assumed to be a sports injury that never got better). For others the initial onset was more dramatic (“I would just wake up at night screaming in pain.” [Female age 41 years]). Back pain was a common presenting symptom. Other early pain locations included buttocks, neck, knees, legs, ankles, feet, hands, chest/sternum, clavicle, “weird shoulder pain,” sciatic pain, and migratory pain. Pain was described as shooting, stabbing, aching, soreness, constant or “on and off,” and ranged in intensity from relatively minor to so bad that the participant was “in tears.” One participant reported, “the doctor told me I had strange aches and pains.” [Female age 65 years]. With younger patients, clinicians sometimes attributed pains to “growing pains.” Severe pain was described as “in so much pain I couldn’t move” or “When I find that I breathe in, I feel like I have icepicks sticking through my ribs.” [Male age 53 years]. Some participants experienced pain after remaining in one position for a long time. Others experienced very painful spasms in their neck, back, or hips.
Participants also described a noticeable unusual gait or “funny gait,” or a “bending over” posture. Many participants described a need to curtail normal physical activities or sports. Other early symptoms included an inability to lift their leg (e.g., to get out of the car), pain at night disturbing sleep, an inability to sleep flat or sleep in a bed, morning stiffness relieved after long shower, and severe eye pain.
Participants discussed early disease experiences as they started seeking answers and relief from their doctors. Early symptom experiences were varied, and some patterns of symptoms made estimating duration of symptoms difficult. Many participants experienced frustration and mental suffering during the journey toward a diagnosis.
Table 3 shows representative quotes for early symptom stories organized into five themes: (1) pain; (2) stiffness; (3) sleep; (4) daily activities; and (5) changes with weather. With respect to pain (frequency, timing, intermittent patterns), some participants had constant pain that flared up, whereas others had short bouts of pain that subsided and re-emerged. For some, pain was localized in one or only a few locations, while others experienced waxing and waning pain that migrated around their body, making it difficult to describe location or duration. Participants described pain intensity either by its life impact or by using a numeric pain scale. The numeric scale had limitations, as some patients reported baseline pain levels above 5 on the scale, and other patients describe their pain at times as “off the charts.” Stiffness was described in a variety of ways, mostly by which activities it prevented participants from performing—like getting out of bed or cutting their toenails. They also described strategies to deal with stiffness by “breaking through” the stiffness regardless of pain. Impact on sleep was mentioned by some as among their earliest complaints (“[waking] up at night screaming in pain” [female age 41 years]) and later in disease progression when it was impossible to find a comfortable position for sleep. Impacts on sleep were some of the most upsetting issues for participants. Participants described how symptoms affected their ability to continue daily activities, including work, driving, caring for children, shopping, personal hygiene, and sports or other recreational activities. Many but not all participants described dramatic changes in symptoms concurrent with changes in weather, particularly with an approaching storm. Some participants attributed flare-ups to changes in barometric pressure, or to increased humidity. Two participants also mentioned worsening of their symptoms precipitated by a change in altitude (i.e., returning to a high-altitude location).
Some participants, especially women, reported misdiagnosis because they didn’t fit the “typical” axSpA profile (i.e., male, predominantly axial skeletal involvement, aged in their 30's). This resulted in further diagnostic delay and frustration. Several participants had been told that their symptoms were due to growing pains or the result of sports injuries. The sports injury most commonly implicated was a “pulled muscle.” Other presumed sports injuries included a “sprained ligament,” “bruising of the bone,” dehydration, and “chronic groin pull.” A few participants reported that their doctor had attributed their symptoms to one leg being shorter than the other and advised them to wear a wedge in their shoe. Other orthopedic misdiagnoses included “flat feet,” “toe walking,” frozen shoulder, and back problems such as a bulging disk, “slipped disk,” “pinched nerve,” or sciatica. Participants mentioned a variety of different rheumatologic misdiagnoses, including rheumatoid arthritis, juvenile rheumatoid arthritis, psoriatic arthritis, “some form of arthritis,” or a “mild case of arthritis.” One participant was appropriately diagnosed with inflammation of the sacroiliac joints—with the caveat “but we don’t know why.” Other misdiagnoses included osteomyelitis, Duchenne muscular dystrophy, cancer, and a sleep disorder.
Several participants had multiple misdiagnoses. “They would do tests on me all the time and it was always something new [new disease]… It took a few years before it came up, the AS.” [Male age 46 years]. Other participants had no diagnosis for a prolonged period of time: “They would ask questions, but nothing would emerge as a potential diagnosis.” [Female age 33 years]. To help participants cope with symptoms, physicians sometimes advised patients to change their jobs or career, reduce their activities (“You’re doing too much”), go to a physical therapist or chiropractor, or simply warm-up before exercising.
All participants ultimately received a verified diagnosis of axSpA. For many, this was due to their own and/or their family’s tenacity to find answers. Some participants had the confidence to challenge their physicians about their initial diagnosis. During their prolonged diagnostic journey, most participants felt widely misunderstood by physicians. Advocacy was seen by most participants as essential to advancing the diagnostic process often over years. Some resorted to their own research and self-diagnosis, often confirmed when they convinced a doctor to obtain HLA-B27 testing or a rheumatology referral. This level of advocacy was viewed as challenging but necessary to sustain over time. Some patients resented having to do their own research, and self-advocacy was considered particularly challenging when patients were sick.
Human leukocyte antigen B27
Most participants were HLA-B27  positive. Although many understood that this test was not by itself diagnostic for axSpA, it often was a key factor in their receiving a definitive diagnosis. Some reported having other family members who also carried the gene, some of whom were asymptomatic. A few participants were unsure if they had been tested for HLA-B27. None reported a negative test. In general, participants would have preferred to have been tested for the HLA-B27 antigen earlier. Some participants advocated for wider use of HLA-B27. One participant suggested adding HLA-B27 to routine “arthritis panels”. Participants believed that early administration of a definitive diagnostic test for axSpA would have alleviated both their physical and emotional suffering. One participant explicitly stated the need to develop a definitive diagnostic test for axSpA.