Therapeutic photography and expressive writing for marfan syndrome: a nurse-led pilot study in cardiovascular rare diseases

Therapeutic photography (TP) and expressive writing (EW)—creative practices that leverage visual imagery and narrative disclosure, respectively—are low-cost, scalable interventions led by nurses to enhance patients' expressive processing of psychological distress, stigma, and disease identity in chronic conditions. Marfan syndrome (MFS), an autosomal-dominant connective tissue disorder with cardiovascular, ocular, and skeletal manifestations, profoundly impacts health-related quality of life (HRQoL). This pilot study evaluates nurse-facilitated TP and EW on psychological well-being, emphasizing patients' lived experiences of disease expressivity in multidisciplinary care.

In a mixed-methods sequential exploratory design, 10 MFS patients (>13 years) from a Milan rare diseases reference center participated in 11 monthly 120-minute sessions (in-person/online), facilitated by a nurse and a psychologist. Psychological well-being was assessed pre/post via Psychological General Well-Being Index questionnaire (PGWBI); semi-structured interviews and User Experience Questionnaire (EUQ) captured patients' experiential shifts in disease expressivity.

Patients reported transformative experiences: novices discovered TP/EW as original tools to visually/narratively express disease embodiment, emotions, and identity—overcoming reluctance via nurse-guided reflection. Thematic analysis revealed enhanced emotional granularity, sharing of "invisible" burdens, and reframed self-perception. PGWBI improved significantly across domains (p=0.034, Cohen's d=1.08, large effect; Mann-Whitney U); EUQ indicated high efficiency (mean=-1.25 on satisfaction scale; others neutral).

Nurse-led TP and EW empower MFS patients to articulate and process unique disease experiences, fostering self-care and coping. Larger nursing trials in rare diseases are warranted to validate this patient-centered approach for improving HRQoL.