Assessing healthcare experiences and barriers to care among individuals with ectodermal dysplasia

To conduct a scoping assessment of barriers and facilitators to medical and dental care among individuals and caregivers affected by ectodermal dysplasia (ED). A sequential quantitative and qualitative approach was employed using web-based questionnaires and focus groups. A 76-item questionnaire was developed using a combination of validated instruments and expert opinion. Sections included diagnosis, insurance coverage, oral health status, and access to care. Descriptive statistics and bivariate methods were used to compare medical versus dental access to and satisfaction with care. Focus groups were conducted using a semi-structured guide with caregivers of affected children and individuals with ED. Interview recordings were transcribed verbatim, coded, and analyzed inductively using MaxQDA software. A total of 174 questionnaire responses were received. Access to and satisfaction with dental care was lower than medical care. Subjects reported finances as the largest barrier to dental care. Eight focus groups were conducted. Most frequently cited frustrations included insurance delays or denials, dismissive provider attitudes, and fragmented coordination of care, all of which placed a time-intensive burden on the affected individual or caregiver. Self-advocacy was common and necessary in accessing proper resources. Families valued the sense of community gained from support organizations and interactions with other affected individuals. Effective providers demonstrate empathy, curiosity, and willingness to collaborate with their patients and other specialists. Families seek providers who demonstrate honesty, active listening, and open-mindedness to learn. Fostering skills of self-advocacy among families and encouraging deliberative patient-provider relationships in healthcare education hold promise for improving rare disease care.