Background/Purpose:

Chronic Nonbacterial Osteomyelitis (CNO) is a rare autoinflammatory bone disorder that can result in bone destruction, persistent bone pain, growth disturbances and pathological fractures. CNO is a diagnosis of exclusion; as such, families may experience obstacles before being diagnosed. Little is known about the impact of CNO on the daily lives of patients and their families. The objective of this study is to understand the disease burden and socioeconomic and psychological impact of CNO from the patients’ and families’ perspectives, with the goal of identifying areas of improvement for patient care and reduced disease burden.

Methods:

Population targeted were patients with a diagnosis of CNO made at <22 yrs of age and/or their parent/guardian if patient’s age at time of study was <18 yrs. Participants were invited through the Facebook CNO support group and at clinic visits at Stanford Children’s Health. The survey was administered and completed online through RedCap. Descriptive statistics were conducted with continuous variables reported as means/medians (SD/range) and categorical variables as frequencies and percentages.

Results:

A total of 284 consented and completed the survey. The median age at CNO diagnosis was 10 yrs (range 2-22+). Median time from first CNO symptom to diagnosis was 2 yrs with 48% first seeing a pediatric rheumatologist after 12 months of symptoms. Antibiotics, which are not an effective treatment for CNO, were used in 34.5% of patients prior to CNO diagnosis; of these, 24% received antibiotics for greater than 6 months (Table 1). Difficulty with obtaining MRI studies occurred in 26.7%. Between 25% and 61% reported a negative effect on relationships, school/work or finances; and 19% to 50% reported effects on psychosocial well-being. The majority agreed patients’ performance with daily tasks and hobbies was challenged due to pain, fatigue and physical limitation related to CNO (Figure 1).

Conclusion:

This is the first study to understand the burden of CNO from the patients’ and families’ perspectives. Many experienced delays in diagnosis and seeing a pediatric rheumatologist, ineffective treatments, and problems with relationships, school, work, finances and well-being. Our findings emphasize the importance of educating the medical community about CNO, facilitating earlier referrals to rheumatology and assisting patients/families to cope with socioeconomic stressors and mental health issues. The findings will help develop specific patient reported outcome measures to be used for future clinical trials or comparative effectiveness studies.