Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives

BACKGROUND: Complex vascular malformations (VMs) are rare disorders that can cause pain, coagulopathy, disfigurement, asymmetric growth, and disability. Patients with complex VMs experience misdiagnosis, delayed diagnosis, delayed or inappropriate treatments, and worsened health. Given the potential consequences of delaying expert care, we must identify the factors that impede or facilitate this access to care. RESULTS: We performed semi-structured interviews with 24 parents (21 mothers; 3 fathers; median age = 42.5 years) of children with complex VMs and overgrowth disorders living in the US, recruited through two patient advocacy groups – CLOVES Syndrome Community, and Klippel-Trenaunay Support Group. We performed thematic analysis to assess parental perspectives on barriers and facilitators to accessing expert care. We identified 11 factors, representing 6 overarching themes, affecting families’ ability to access and maintain effective care for their child: individual characteristics (clinician behaviors and characteristics, parent behaviors and characteristics), health care system (availability of specialist multidisciplinary teams, care coordination and logistics, insurance and financial issues, treatments and services), clinical characteristics (accuracy and timing of diagnosis, features of clinical presentation), social support networks, scientific progress, and luck and privilege. Additionally, access to information about VMs and VM care was a crosscutting theme affecting each of these factors. These factors influenced both the initial access to care and the ongoing maintenance of care for children with VMs. CONCLUSION: Parents of children with VMs report multiple factors that facilitate or impede their ability to provide their child with optimal care. These factors represent possible targets for future interventions to improve care delivery for families affected by VMs. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-022-02432-4.