The burden of severe leukocyte adhesion deficiency, type I (LAD-I): A multiple-case study from the caregiver’s perspective

Leukocyte adhesion deficiency, type I (LAD-I) is a rare inborn error of immunity characterized by recurrent, severe infections/inflammation and poor wound healing. Little is known about the patient/family experience of severe LAD-I. We conducted a multiple-case study exploring the burdens of illness, caregiving, and treatment in severe LAD-I. Nine caregivers (parents) representing five families with ≥1 child with severe LAD-I participated in individual, in-depth interviews. Memoing and inductive/deductive coding were used to analyze and compare each family’s experience. The caregivers described frequent and severe infections, physical and social restrictions, a complex journey to diagnosis, rearranging life around severe LAD-I, financial strain, isolation, and uncertainty. Treatment burden varied by treatment type. This multiple-case study highlights how severe LAD-I affects patients and families. As the first study to address the humanistic burden of LAD-I in patients and caregivers, it is an important contribution to the literature on LAD-I and qualitative methods for investigating the burden of rare disease on families.