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Table 1 Identification of challenges to address and gaps to bridge for a more effective involvement of people living with a rare disease condition in healthcare and medical research (PO: patient organization, SDM: Shared decision making, EUPATI: European Patients’ Academy on Therapeutic Innovation, NMD: neuromuscular disease)

From: “Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease

  Educational changes Cultural changes Structural changes
A. Genetic testing and screening/diagnosis • Empower patients and train them on the challenges of genetic testing or screening programs
• Identify leaders who can take the role on specific initiatives
• Teach patients and parents to ask the right questions
• Avoid making decisions at an individual level, but rather opt for groups to get together at either national or European levels to move things forward
• Set up support groups
• Launch surveys in the patient population.
• Map the best practices from the different countries and share results
• Explore the experience of POs in other rare disease fields
• Have a proactive, forward looking approach to upcoming therapeutic options, and take actions according to the opportunities ahead
• Stimulate peer-to-peer discussion, create awareness together with the existing POs
• Inform patients/families about the existence of POs of reference.
• Create more dialogue with POs, involve patients or PO representatives before implementing screening (why, when, definition of the type of support)
• Set up a diagnosis/screening group involving the experts and the disease-specific POs
• Train doctors on SDM regarding how best to create dialogue and involve patients
• Proactively stimulate workshops about this topic.
B. Transition childhood-adulthood • Educate physicians, healthcare practitioners, young people, parents, care-givers on SDM
• Provide unbiased, validated information on diagnosis, treatment options, sexuality, family planning and life choices
• Involve young people and POs as experts to understand educational needs and develop fitting materials (co-creation)
• Use appropriate language: right level of difficulty and “people living with....” instead of “patients with...”
• Coach all persons involved and create ambassadors among patients, parents and caregivers to show the value of behavioural changes.
• Facilitate support by peers and the patient communities to exchange experiences and information.
• Focus on life goals instead of disease management only
• Progressively involve children in decision making and facilitate their conversation with physicians (even without parents)
• Address patients as a person not as their disease’s needs only
• Promote increase in social participation
• Enable patients to live independently (in the family, at school, at work) and become autonomous adults
• Increase awareness of employability of young people with NMD
• Raise confidence and self-esteem of young patients, involve them in team sports and encourage a network of friends.
• Establish specialized centres for paediatric to adult care with multi-disciplinary teams to develop expertise and understand more of the natural history, also learning from other rare diseases
• Include young people in the design of services
• Use influence and implementation power of organisations like EURORDIS, European Patient Forum, EUPATI
• Develop (international) standards of care guidelines for transition and adult care, including the use of SDM
• Implement transition programmes
• Establish financial support for transition programmes and patient advocate groups
• Health insurances, funders and governments to cover costs for all-inclusive (regardless of physical disability) social participation programmes (e.g. summer camps) and decision aids and tools.
• Stimulate a dedicated workshop to this topic.
C. Research with impact on quality of life • Inform about centers of expertise where patients may receive adequate information
• Consider challenges in SDM:
 - Personal barriers (age, communication skills, information gaps on technical terms)
 - Misinformation in the lay communication and social media
 - Indirect SDM mediated by the caregiver’s vision and interaction.
• Patients’ interests can create a change the way society works
• The introduction of patient panels in commissions and advisory boards may go through pilot rounds to provide evidence of their usefulness
• Patient groups’ contribution to clinical study design may positively impact on regulatory agencies’ evaluation of clinical studies.
• Encourage patient-close research, explore patients preferred measurements as new tools
• Reserve more time to set research plans with involvement of patients opinion; physician-patient interaction should be based more on the person than on the disease
• Train next physician generation in SDM as common practice.