Rare Disease Stakeholder Journey: Multi-Perspective Analysis

Project Objective

Our client required comprehensive understanding of stakeholder journeys for ultra-rare genetic disorder characterized by complex diagnostic pathway and fragmented care. The condition's rarity created significant information gaps for patients, caregivers, and healthcare professionals, with average diagnostic journey extending multiple years from symptom onset.

Specific objectives included:

• Map complete patient and caregiver journey from symptom recognition through long-term management
• Understand healthcare professional perspectives across diagnosis, referral, and treatment phases
• Identify key touchpoints, information needs, and educational gaps
• Document emotional and practical challenges across stakeholder groups
• Collaborate with patient advocacy organizations ensuring authentic patient voice
• Develop targeted educational content addressing identified gaps
• Create framework informing Medical Affairs and medical education strategy

Our Methodological Approach

Phase 1: Research Design & Stakeholder Engagement (Months 1-2)

Research Methodology Development:

Designed comprehensive qualitative research program:

• In-depth interview guides for each stakeholder segment
• Journey mapping framework capturing touchpoints, emotions, information needs
• Ethics committee approvals for patient research
• Data privacy protocols compliant with GDPR requirements
• Systematic approach balancing standardization with flexibility for emerging themes

Patient Advocacy Collaboration:

Established partnerships with patient advocacy organizations:

• 3 patient advocacy groups representing affected community
• Collaborative research design ensuring appropriate patient perspectives
• Patient recruitment support for interview program
• Ongoing consultation throughout analysis and interpretation
• Review of educational content for patient-centered language and relevance

Stakeholder Recruitment:

Systematic recruitment across four stakeholder categories:

• Patients (n=40): Individuals with confirmed diagnosis at various disease stages
• Caregivers (n=35): Parents, partners, family members involved in care
• Specialist Physicians (n=45): Specialists managing condition (multiple subspecialties)
• General Practitioners (n=30): Primary care physicians in diagnostic pathway

Phase 2: Data Collection & Analysis (Months 3-7)

In-Depth Interview Program:

Conducted comprehensive interview series:

• 150+ stakeholder interviews (90-minute average duration)
• Semi-structured format allowing standardized topics while capturing unique experiences
• Professional transcription and translation services
• Thematic analysis using qualitative research software
• Iterative coding process identifying patterns and insights

Journey Phase Mapping:

Structured analysis across four distinct journey phases:

Phase 1 - Symptom Recognition & Initial Consultation:

• First symptom awareness and interpretation
• Primary care consultation and initial assessment
• Diagnostic testing initiation
• Information seeking behavior
• Emotional impact: Uncertainty, anxiety, confusion

Phase 2 - Diagnostic Odyssey:

• Specialist referral pathways
• Multiple consultations and testing procedures
• Misdiagnosis experiences and diagnostic delays
• Information gaps and conflicting guidance
• Emotional impact: Frustration, isolation, fear

Phase 3 - Diagnosis & Treatment Initiation:

• Confirmation of diagnosis
• Understanding disease prognosis
• Treatment option evaluation
• Healthcare team establishment
• Emotional impact: Relief, grief, overwhelming information

Phase 4 - Ongoing Management:

• Treatment monitoring and adjustment
• Complication management
• Quality of life considerations
• Coordination across healthcare providers
• Emotional impact: Adaptation, advocacy, ongoing uncertainty

Cross-Cutting Themes Analysis:

Identified consistent themes across stakeholder groups:

• Information Accessibility: Limited reliable information sources, difficulty finding appropriate resources
• Healthcare Coordination: Fragmented care across multiple specialists, communication gaps
• Diagnostic Delays: Lengthy time from symptom onset to diagnosis, multiple misdiagnoses
• Rare Disease Awareness: Limited HCP familiarity, missed diagnostic signs
• Emotional Support: Insufficient psychological and practical support resources
• Patient Empowerment: Need for tools enabling effective advocacy and healthcare navigation

Phase 3: Insights Synthesis & Content Development (Months 8-10)

Journey Visualization Development:

Created comprehensive journey maps for stakeholder visualization:

• Visual journey representation across all phases
• Touchpoint identification and characterization
• Emotional trajectory mapping
• Information need documentation
• Opportunity identification for educational interventions

Educational Content Gap Analysis:

Systematic identification of content requirements:

• For Patients/Caregivers: Symptom recognition guides, diagnostic journey navigation, treatment understanding, self-advocacy tools
• For General Practitioners: Diagnostic criteria, referral pathways, initial management guidance
• For Specialists: Multidisciplinary care coordination, emerging evidence updates, patient communication guidance

Targeted Content Development:

Created educational materials addressing identified needs:

• 12 distinct content pieces across stakeholder groups
• Patient materials: Symptom diaries, diagnostic journey guides, question checklists for consultations
• HCP materials: Diagnostic algorithms, referral criteria, management summaries
• Format diversity: Written guides, infographics, symptom recognition tools
• Plain language: Patient materials reviewed by health literacy experts and patient advocates
• Medical accuracy: All content validated by medical specialists

Service Delivery Outcomes

Research Scope & Quality

• 150+ stakeholder interviews completed across 4 stakeholder categories
• Diverse participant representation: Geographic spread, disease severity range, demographic diversity
• Data saturation achieved: Comprehensive theme identification with redundancy confirmation
• Patient advocacy collaboration: 3 organizations engaged throughout research process
• Ethical conduct: Full ethics committee approval, informed consent, participant confidentiality

Insights Generation

• 4-phase journey framework established from symptom recognition through ongoing management
• 25+ key touchpoints identified across stakeholder journeys
• Comprehensive emotional mapping: Documented psychological impact across journey phases
• Information gap documentation: Systematic identification of unmet educational needs
• Actionable recommendations: Specific opportunities for Medical Affairs interventions

Content Development Achievement

• 12 educational content pieces developed addressing priority gaps
• Stakeholder-specific materials: Tailored content for patients, caregivers, GPs, specialists
• Multiple format types: Written guides, visual tools, checklists, infographics
• Plain language achievement: Appropriate reading levels for intended audiences
• Medical accuracy validation: Expert review ensuring clinical appropriateness
• Patient advocacy approval: Patient-centered language and relevance confirmed

Strategic Framework

• Comprehensive insights report: Detailed documentation informing Medical Affairs strategy
• Visual journey maps: Stakeholder-specific visualization tools
• Opportunity prioritization: Ranked interventions based on impact potential
• Implementation roadmap: Phased approach to educational content deployment
• Ongoing monitoring framework: Metrics for tracking intervention effectiveness

Key Success Factors

• Multi-Stakeholder Approach: Capturing diverse perspectives provided comprehensive understanding
• Patient Advocacy Partnership: Ensured authenticity and patient-centered approach
• Rigorous Qualitative Methodology: Systematic analysis yielding reliable insights
• Journey Framework: Structured approach enabling clear visualization and communication
• Action-Oriented Outputs: Research translated into practical educational interventions
• Ethical Excellence: Appropriate consenting, confidentiality, and respectful engagement

Methodology Transferability

This engagement established framework applicable to other rare diseases:

• Interview Guide Templates: Stakeholder-specific question frameworks
• Journey Mapping Process: Systematic approach to phase identification and touchpoint mapping
• Patient Advocacy Collaboration Model: Partnership framework ensuring authentic patient voice
• Content Gap Analysis: Systematic identification of educational needs
• Ethics & Privacy Protocols: GDPR-compliant research methodology

Services Deployed