Defining the Clinical, Emotional, Social, and Financial Burden of Congenital Athymia.

Introduction: Characterize the burden of illness in pediatric patients with congen̄ital athymia who were receiving supportive care.

Methods: This cross-sectional study of adult caregivers of patients with congenital athymia used both a quantitative survey and qualitative interviews. Caregivers of patients currently receiving supportive care responded to questions about the past 12 months and completed the parent proxy version of the Pediatric Quality of Life Inventory Generic instrument (PedsQL) for patients aged 2-4 years. For caregivers of patients who had received supportive care in the past, questions were asked about the period when they were receiving supportive care only.

Results: The sample included caregivers of 18 patients, 5 who were currently receiving supportive care and 13 who received investigational cultured human thymus tissue implantation before study enrollment and had received supportive care in the past. The impact of congenital athymia was substantial. Reports included the need to live in isolation (100% of respondents); caregiver emotional burden such as fear of death, infection, and worries about the future (100%); financial hardship (78%); and the inability to meet family/friends (72%). Patients had frequent and prolonged hospitalizations (78%) and had high utilization of procedures, medications, and home medical supplies. Caregiver-reported PedsQL scores for patients currently receiving supportive care (n = 4) indicated low health-related quality of life.

Conclusions: Caregivers of patients with congenital athymia reported high clinical, emotional, social, and financial burden on patients and their families.