Patient Journeys

ERN CRANIO patient representatives have worked on developing ‘patient journey’ visuals, in collaboration with their wider patient community and with the support of EURORDIS. These patient journeys seek to reflect a (collective) perspective on the needs and care that these patients and their families would like to receive throughout the different stages of their journey, from the first symptom through diagnosis, treatment and follow-up.

Using this tool, ERN CRANIO patient representatives and clinicians can identify together gaps in care services, adjust the care pathways to better meet the needs of people living with these diseases, and discuss what are the relevant outcomes and challenges in the different stages. With this information, the ERN will be able to base its collaborative activities on a good understanding of the care needs of the patient population it serves. The patient journeys are also a useful resource for patients, families, as well as the general public and non-expert clinicians to understand what are the care needs that people living with these diseases will experience throughout the different stages.

The patient journey documents reflect personal experiences that may vary between people, hospitals and countries. They are not the same as clinical practice guidelines, which are;

“Statements that include recommendations intended to optimise patient care that are informed by a systematic review of evidence and assessment of the benefits and harms of alternative care options”1

The journeys are working documents and can be continually reviewed and added to by others in the rare disease community. The ultimate aim is to include the perspectives of as many patients and families as possible across a wide range of European countries, so that the journeys reflect a collective view.

Within ERN CRANIO, patient journey visuals exist for:

A 6th patient journey visual for Treacher Collins Syndrome is also in development.

The patient journeys are/will be published centrally on the ERN CRANIO website. Versions are to be updated over time. The journeys published have been approved by ERN CRANIO’s coordinator for publication.

1 Institute of Medicine, 2011. Clinical practice guidelines we can trust; (Accessed on April 20, 2020).


A poster on the ERN CRANIO patient journeys was presented at the 10th European Conference on Rare Diseases and Orphan Products (ECRD 2020) in May 2020.

An abstract on this topic has subsequently been published in the Orphanet Journal of Rare Diseases (November 2020) titled 'Patient Journeys': Personal experiences shaping clinical priorities 

Please contact the ERN CRANIO Project Managers for more information.