Journal of Clinical and Translational Science · Published 2026-07-27 · DOI 10.1017/cts.2026.10798
Blake Vuocolo, Roberta Sierra, Seema R. Lalani, Amanda M. Gutierrez
Abstract Background: Families’ experiences navigating access to comprehensive pediatric care for children with diagnosed or suspected rare disease (RD) in the Texas Rio Grande Valley (RGV) remain unexamined. We explored factors influencing access to specialty medical care, social services, and community support for families of children with RD in the RGV. Methods: We conducted 25 semi-structured qualitative interviews (n = 17 English, n = 8 Spanish) with parents of children up to age 18 with undiagnosed RD enrolled in Project GIVE, which provided genetic evaluation and testing to families in the RGV. We generated themes through an iterative inductive coding process using reflexive thematic analysis. Results: Four themes captured parents’ experiences accessing services for their child’s medical care and educational accommodations and family support: (1) service shortages resulted in long waits, care disruptions, and long-distance travel; (2) cumbersome administrative and insurance processes led to delays in receiving services; (3) staff-led care coordination mitigated challenges navigating and communicating across fragmented services; and (4) caregiving imposed emotional strain on families amid unmet psychosocial support needs. The process of accessing medical care was a recursive cycle triggered by family-, clinician-, and insurer-initiated disruptions which required parents to reestablish referrals and scheduling, further compounding barriers. Conclusions: Limited medical and social services in the RGV augmented already considerable financial, logistical, and emotional burdens on families caring for children with RD. Use of digital health platforms to streamline appointment scheduling and medical record access may promote pediatric RD care coordination and continuity and help minimize the recursive cycle of access barriers.
Abstract from DOAJ. Public domain (CC0 1.0).
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Vuocolo, B., Sierra, R., Lalani, S., et al. (2026). Access to specialty health care and social services for children with rare disease in the Texas Rio Grande Valley: A qualitative study. Journal of Clinical and Translational Science. https://doi.org/10.1017/cts.2026.10798