Leukodystrophies
https://www.nature.com/articles/s41431-025-01930-w#
People living with rare diseases often have complex medical needs and see many different healthcare professionals (HCPs) both in routine care and in emergency situations. Because many HCPs are unfamiliar with rare conditions, patients and caregivers often have to repeatedly explain their diagnosis, treatments and care needs, which can be stressful, time-consuming and lead to delayed care. This article reports a pilot study of a patient passport created specifically for individuals with rare diseases. The passport is a short, portable document that summarises key medical and treatment information in one place. It was co-designed with patients, caregivers and HCPs. The study used surveys completed by patients and caregivers before and after using the passport, as well as surveys completed by HCPs. Before using the passport, most patients and caregivers reported spending a significant amount of time explaining their condition to new care teams, and many found this difficult and distressing. Nearly all (155/156) felt that a single document would be a helpful communication tool. After an average of 18 weeks of use, 55 participants answered the follow-up survey. Most reported that the passport made communication easier and increased their confidence when interacting with unfamiliar care teams. They also found that it was more helpful than any other tool they were already using for this purpose, and the majority would recommend it to others with rare diseases. HCPs who reviewed the passport, although without direct experience with it in clinical practice, also viewed it positively, noting improved communication and potential benefits in emergencies. However, many felt that formal NHS endorsement would increase trust and uptake. Overall, the study suggests that a rare disease patient passport can enhance communication, coordination of care and patient experience, supporting the case for further evaluation and broader implementation.