Table 2 Selection of codes indicating actual system usage by patients/families and healthcare professionals by frequency

1. Describing journey to diagnosis (frequency: 136/1357)

Late diagnosed; Nobody believed me; Sharing first signs and symptoms; doctors’ key role in breaking bad news; Distressing journey through differential diagnoses and process of elimination; Misdiagnosed, mistreated or not diagnosed locally

2. Being a mentor to others (frequency 147/1357 codes)

Need disease knowledge and psychological support that only a patient can offer; Sharing information about treatment; Don’t ever think you are alone - Parents and patient fighters and winners; Coping mechanisms with the disease

3. Everyday challenges (frequency 145/1357 codes)

Talking about the discrimination they experience because of their disease; Diagnosis putting life on hold– work, school, studies, going abroad, leisure; Difficult to explain a disease that people cannot see; Sharing emergency experiences; Finding ways to communicate with non-verbal children; Helping rd children develop autonomy - long term

4. Specialists share expertise (frequency 12/1357 codes)

L-carnitine dosage to avoid unpleasant side effects; Carglumic acid for chronic hyperammonemia; Gene therapy options for IMD; Gene therapy for neuromuscular diseases; Why does the number IMDs increase over time?; What patients need to know about Primary Ciliary Dyskinesia; New therapies for Tourette; Genetics vs. Clinical criteria of FMF; Emergency guidelines for rare diseases – Orphanet; Preimplantation Genetic Diagnosis; PIDs early detection - signs and symptoms