Background/Purpose: Auto-inflammatory diseases (AIDs) are rare disorders that usually present in young children. Disease episodes, characterized by recurrent inflammation, are often frequent and unpredictable, and long-term outcomes are variable.  AIDs are not easily recognized by community health professionals, thus diagnosis may be delayed.  Our objective is to understand the challenges families experience prior to and after their child is diagnosed with an AID.

Methods: Parents of children followed in the AID clinic at BC Children’s Hospital (BCCH) between May-August 2019 were asked to participate. Parents completed a survey aimed to identify challenges faced prior to their child’s diagnosis, and resources families found helpful after diagnosis.  Likert scale and open-ended questions were included. Open-ended question results were grouped into themes for reporting. Summary descriptive statistics were applied as appropriate.  General demographic and clinical information (child’s current age, diagnosis, and age at diagnosis) were also collected.

Results: Fifty families completed the survey.  Their respective children with an AID had a median age of 11 y (range 4-18 y), 56% male.  Time from onset of AID symptoms to diagnosis was median 2 y (range 0.5-12 y).  Other family members with an AID were reported in 16% of families.  The most frequent diagnoses were PFAPA (n=17), CRMO (n=11), unclassified (n=6), and FMF (n=6).  At the time of their child’s diagnosis, 7-% of parents reported difficulty getting medical attention for their child’s illness, 78% worry about their child’s daily functioning and future, and the majority of parents noted a negative impact on their work (58% missing time from work, 62% changing work schedule), and significant parental stress, anxiety, and fatigue.  Open-ended questions revealed (i) parents feelings were not taken seriously by medical providers when seeking care, (ii) anxiety regarding diagnostic uncertainty, (iii) lack of confidence caring for their sick child, (iv) child missing school and activities, and (v) parents missing work to care for their ill child.   The most common resources parents used for support and information were health care professionals in the BCCH AID Clinic and online parent support groups.

Conclusion: Parents of children with AIDs share common challenges prior to their child’s diagnosis, including a substantial impact on their work and personal wellness.  Access to expertise in a specialty AID clinic provides important support to parents.  This needs assessment provides guidance for the development of education in the area of AIDs and parent support services that will improve coping for families of newly diagnosed children with AID.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/challenges-faced-by-families-of-children-with-an-auto-inflammatory-disease/