For patients and families
This page contains information that may be of importance to patients with a rare inherited and congenital disease, of for parents that have a child with one of these conditions.
Patient representatives
In 2015, the European Commission Expert Group on Rare Diseases published an Addendum to their 2013 ERN recommendations which formally recognised the value patient representatives can bring to the ERNs by being involved in their decision and opinion making structures. In 2016, EURORDIS and the European rare disease community established 24 European Patient Advocacy Groups (ePAGs) aligned to the clinical scope of each ERN.
The ERNICA European Patient Advocacy Group (ePAG) is comprised of Associated partner patient organisations and their ePAG advocates (/patient representatives). Patient organisations that meet the following requirements may apply and be invited by the ERN Coordinator in agreement with the ePAG lead, on behalf of the ePAG, to join ERNICA as Associate partners:
1. The organisation is legally registered and operates in Europe (48 countries as defined by EURORDIS based on definitions by the EU, the Council of Europe and the WHO-Europe), representing patients and families living with a rare disease that belong to the scope of ERNICA. This registration requirement can be waived in exceptional cases, due to the particularity of patient-driven organisations and of rare diseases, as well as for historical or contextual reasons.
2. Has a governing board made up of a majority patients or of family members of patients. This requirement can be waived in exceptional cases, due to the particularity of patient-driven organisations and of rare diseases, as well as for historical or contextual reasons.
3. Is financially independent, particularly from the pharmaceutical industry (max. 50% of funding from several companies).
4. Holds non-profit status.
5. Has proven activities such as patient support and/or advocacy activities and/or research.
As part of the application process, these patient organisations will formally endorse an ePAG advocate to be active in ERNICA working groups. They will represent the voice and interests of all patients that fall under the scope of the ERN, beyond their own disease. If the application is successful, ERNICA and the patient organisation will sign an Associate Partnership Collaboration Agreement.
Patient organisations/patient representatives interested in being involved in ERNICA can contact Sara Roman Galdran (project manager) for more information: s.romangaldran@erasmusmc.nl
Standards of Care
For rare or complex conditions, there are no clinical guidelines or consensus statements available at present. For some diseases, these are available but some may require review and revision.
ERNICA seeks to endorse, develop or existing clinical guidelines and consensus documents to ensure clinical recommendations are made available to clinicians, patients and their families based on research of the highest quality. As part of this dissemination, ERNICA seeks to create tailored versions of guidelines/consensus statements for patients and families.
Patient journeys
A patient journey describes a number of key stages in the patient's life from possible pre-natal diagnosis to adulthood, identifying key issues and relevant good practice at each stage.
ERNICA clinicians and patient representatives within the esophageal diseases working group have been developing a 'patient journey' for esophageal atresia. This project is led by patient representatives from ‘EAT’, the international federation of esophageal atresia support groups.
The project sets out to describe the patient's journey at a number of key stages in the patient’s life from possible pre-natal diagnosis to adulthood, identifying key issues and relevant good practice at each stage.
Animations and E-learning
ERNICA has developed a series of animation videos for patients, parents and families in various languages.
Sexual support
Anorectal malformations and Hischsprung's disease
How can an anorectal malformation (anal atresia) or Hirschsprung's disease affect sexuality? What can be different than in others without these conditions? What can you encounter and how can you deal with it? Answers to these and other questions about intimacy, sex, sexuality and sexual development can be found on the ERNICA/eUROGEN sexual support website [In Dutch and English].
This website is designed to support patients with Hirschsprung's disease and anorectal malformations, their parents and healthcare professionals involved in their care.
The original version of this website (in Dutch) was developed by project group 'SO' (Seksuele Ondersteuning anorectale malformatie & ziekte van Hirschsprung) in close collaboration with patients and specialist practitioners in the Netherlands. See research paper by Violet Petits-Steeghs et al. (2020) for more information on the project.
The Dutch website has been translated into English and adapted (where relevant) for an international audience.
Do you want to help us improve this website or give feedback?
ERNICA and eUROGEN are collecting anonymous information from website users to evaluate the use, applicability, expected empowerment effect and experience of this sexual support website tool on healthcare professionals, patients, parents and other relations on an international level. This evaluation aims to identify areas where the website can be improved to ensure it is fit for purpose and meets the needs of users. It may also help to shape new resources or initiatives in the future. Find out more here.