Patients affected by rare diseases have acquired a lot of expertise through their own experience, but often face difficulties in contributing to ERN activities, due to different kinds of barriers. To overcome some of the practical barriers of involving patients in the Networks, ERN GENTURIS has developed an innovative approach for patients to share their expertise and experience, through developing disease-specific ‘Patient Journeys’ from the perspective of patients and parents.

People affected by a rare disease become experts of their own disease, acquiring knowledge of its natural history through a lifetime of experience gained from living with it. Patient Representatives are active in the ERNs in sharing this knowledge and experience with the Networks HCP Members. Nevertheless, there are many practical and perceptual barriers to meaningful patient involvement. On one hand patients' lack of technical knowledge can impair their active contribution, and on the other clinicians are sometimes reluctant or resistant to take this input on board, failing to perceive its added value. Although patient involvement is generally perceived as beneficial and recommended in clinical guidelines, care pathway development and research, there is no clear consensus as to the most effective approach to overcome these barriers.

“Patient Journeys” are personal testimonies from people who have first-hand experience of living with rare inherited syndromes. They map the natural history and burden of patient needs along their life journey, through the patient’s or parent’s eyes. Patient Journeys are a ‘reference point’ for Network activities and have become the cornerstone of the ERNs – providing the ERNs with the key perspective of those living with a rare disease. In the framework of its activities, ERN GENTURIS has encouraged its Patient Representatives (ePAG Advocates) to complete a mapping exercise of the needs of each rare inherited syndrome they represent, across the different stages of the patient journey. Stages of patient journey progress from first symptom, pre-diagnosis, diagnosis, to first treatment, surgery, surveillance and follow-up care.

Patient needs at each stage of the journey are tackled under three themes - clinical presentation, patient needs and recommendations on ideal care. Each journey was reviewed by members of their respective patient community before being clinically validated by ERN GENTURIS Thematic Leads.

ERN GENTURIS has developed Patient Journeys for the following clinical areas: Neurofibromatosis Type 1, Neurofibromatosis Type 2 and Schwannomatosis; PTEN hamartoma tumour syndrome (PHTS); Lynch syndrome; Hereditary breast and ovarian cancer (HBOC). The Patient Journeys can be found on the ERN GENTURIS website