Navigating care for rare diseases: Caregiver and patient advice for families and clinicians managing care for vascular malformations

Objective: Families affected by rare diseases face many challenges finding adequate care and often report poor communication with clinicians. In the current study, we explore patient and caregiver advice for families and clinicians in the context of complex vascular malformations (VMs), a condition that is frequently misunderstood and misdiagnosed. Methods: We performed semi-structured interviews with 21 adult patients with complex VMs and 24 caregivers of children with VMs. We analyzed the transcripts using thematic analysis. Results: Participants advised patients and caregivers to advocate for care, address mental and emotional well-being, seek social support, and promote self-management and self-care. Participants advised clinicians to show care and concern, show commitment, empower and validate, communicate information clearly, address mental/emotional well-being, acknowledge the broad impact of disease and treatment, acknowledge your limitations, work as a team, and commit to learning. Conclusion: Participants’ advice revealed challenges related to family-centered communication and patient and caregiver quality of life and demonstrated the importance of self-advocacy and social support. Practice implications: The result of this study can help newly-diagnosed families overcome challenges related to care and communication. Clinicians can also use the results to support families by offering them our accompanying handout to validate families’ experiences and relay this advice.