The Rare Disease Journey Is More Complex Than Ever 

Rare disease patient journeys have always been difficult to navigate.  

Today, that journey is becoming even more complex. 

Patients are no longer relying solely on healthcare providers for information and guidance. They are actively engaging with digital tools—including AI—to research symptoms, evaluate treatments, and prepare for doctor’s visits. At the same time, they interact with a broad network of people who extend beyond traditional research targets of patients, caregivers, and physicians. 

For pharmaceutical manufacturers, this raises an important question: 

How do you fully understand a patient journey that extends beyond the patient—and beyond what traditional research methods can capture? 

The Full Stakeholder Ecosystem 

Patient journey research has historically focused on patients, caregivers, and physicians. These perspectives are essential, but rare disease patients interact with a broader array of people, including: 

• Nurses, influential in education, administration, and ongoing support  

• Pharmacists and specialty pharmacies, who can impact access, affordability, and adherence  

• Extended family members, who influence decision-making and provide support  

• Employers and coworkers, who shape quality of life and day-to-day burden  

• Patient advocacy groups and online communities, which often serve as primary sources of information and connection  

• Each of these stakeholders introduces distinct perspectives and needs. However, time-and-cost constraints make it difficult to engage all of them in traditional patient journey research difficult. 

How Synthetic Stakeholders Can Help 

Synthetic Users—AI-generated personas grounded in real-world data and emotional depth—offer a practical way to expand the scope of insight. 

They enable teams to: 

• Explore perspectives from hard-to-reach stakeholders  

• Identify potential barriers and unmet needs across multiple groups of people  

• Rapidly test hypotheses and refine research focus areas  

• Enhance and extend findings from primary research  

Synthetic Users are most powerful when used alongside traditional methods. They provide breadth and speed, allowing teams to understand the perspective of multiple groups of people before and after engaging real participants. 

This approach ensures that primary research is more focused, more efficient, and more impactful. 

Patients Are Increasing their Use of AI in in their Journey 

Patients are increasingly using AI to: 

• Interpret early symptoms and explore potential causes  

• Validate or challenge information provided by healthcare professionals  

• Translate complex medical terminology into accessible language  

• Compare treatment options and anticipate side effects  

• Prepare questions and discussion points for physician visits  

This introduces a new and often invisible layer to the journey. 

Patients may arrive at visits with healthcare providers with pre-formed hypotheses, varying levels of understanding of the details, and heightened expectations. AI can help or hinder the quality of care, depending on what the patient learns and how they communicate with their doctor about it   

For manufacturers, understanding how and when patients engage with AI is critical to: 

• Designing effective educational strategies  

• Ensuring accurate and accessible information is available  

• Supporting more productive patient–provider interactions  

A Modern Approach to Patient Journey Research 

To capture the full complexity of today’s rare disease landscape, patient journey research must evolve across several dimensions. 

• Integrate Human and AI-Enabled Insight 

Combining primary qualitative research with Synthetic User exploration allows for a broader and more efficient mechanism for exploring patient journeys. For example, we can leverage synthetic respondents first to explore findings / influence across a wide range of stakeholder types and topics, then narrow our focus with human respondents and in-depth, specific questions we want to fully explore. This hybrid approach delivers a more complete understanding of the ecosystem while optimizing time and resources. 

• Capture Both Experience and Behavior 

Digital behaviors—including AI usage—are increasingly shaping how patients interpret and act on information. Exploring these behaviors and potential influence in a synthetic, AI-enabled ecosystem helps us understand what patients are searching for, what AI is likely to tell them, and what those implications may be for engaging further with their HCPs. 

• Address Recruitment Limitations Strategically 

Rare disease recruitment will always present challenges. Leveraging Synthetic Users can help fill critical gaps, ensuring that key perspectives are considered even when direct access is limited. 

Case Study: Hereditary Angioedema (HAE) 

Hereditary angioedema (HAE) illustrates the complexity of rare disease journeys and the value of an expanded research approach. 

The Patient Experience 

Patients with HAE often endure years of unexplained symptoms, including recurrent swelling episodes that are frequently misdiagnosed. The path to diagnosis typically involves multiple healthcare providers, emergency interventions, and significant uncertainty. 

Even after diagnosis, challenges remain: 

• Navigating treatment options  

• Managing unpredictable attacks  

• Accessing and adhering to therapy  

• Addressing the broader impact on daily life  

The Broader Range of Stakeholders 

Expanding the lens reveals additional dynamics: 

• Nurses influence patient confidence in self-administration and ongoing adherence  

• Specialty pharmacies shape access through prior authorization, reimbursement, and education  

• “Access is honestly the biggest operational headache we deal with. Prior authorizations are the main culprit — these medications are extraordinarily expensive, and payers push back hard. We’re talking about drugs that can run tens of thousands of dollars per treatment. Our team spends a significant chunk of time working through PA submissions, appeals, and step therapy requirements. Some patients get caught in these cycles where they’re waiting on coverage determinations while they’re genuinely at risk for attacks. That’s not an abstract problem — that’s a real clinical gap.”               – AI Respondent, Pharmacist working at a specialty pharmacy 

• Family members play a role in genetic awareness, testing decisions, and emotional support  

• Employers and coworkers affect the patient’s ability to manage work responsibilities and disclose their condition  

• “They did share with me – and I want to be careful about how I characterize this – that there’s a fatigue that comes not just from the physical episodes but from constantly having to manage other people’s perceptions of their reliability. That struck me. It’s one thing to manage a medical condition. It’s another to also manage your professional reputation around it simultaneously. I wouldn’t say it’s derailed their career, but I do think it adds a layer of friction that their colleagues simply don’t have to deal with.”                  – AI Respondent, HR Director at the workplace of an adult HAE patient 

The AI Layer 

Patients with HAE are also increasingly engaging with AI tools throughout their journey: 

• Early-stage individuals may use AI to interpret swelling symptoms, often leading to incorrect assumptions  

• Diagnosed patients may rely on AI to compare prophylactic and on-demand therapies  

• “When my doctor brought up potentially switching my prophylactic treatment, I did use ChatGPT to try to get a clearer picture of what the differences were between options. Not to make the decision myself, but just to walk into the next appointment feeling less lost.  I’d ask it to explain things in simpler terms, which was helpful because sometimes I’d leave appointments with more questions than answers.”       – AI Respondent, HAE Patient 

• Many use AI to prepare for specialist visits, improving engagement but also introducing new expectations  

• “Honestly, I’ve started using AI tools pretty regularly over the past year or so, mostly ChatGPT. I’ve used it to help me prepare for appointments – I’ll describe what’s been going on with my symptoms and ask it to help me organize my thoughts into clear questions to bring to my doctor. I feel like I show up more prepared that way. The other biggest thing for me is using it to decode medical literature. Like, my immunologist will mention a study or a new mechanism of action for a drug, and I’ll go home and paste the abstract into ChatGPT and ask it to break it down for me. That’s been genuinely useful.”                – AI Respondent, HAE Patient 

Implications 

By combining patient interviews with Synthetic User perspectives and analysis of AI-driven behaviors, several opportunities emerge: 

• Improve diagnostic pathways through clearer, more accessible education  

• Enhance support programs that address both clinical and lifestyle needs  

• Align messaging with how patients actively seek and process information  

• Identify friction points in access and adherence that extend beyond the physician’s office  

Bringing Insights to Life 

The value of patient journey research lies in its ability to inform strategy and drive action. 

Effective approaches to activation include: 

• Journey maps that illustrate the interplay between stakeholders  

• Integrated journey frameworks that combine emotional, clinical, and digital touchpoints  

• Immersive workshops that enable cross-functional teams to engage directly with patient and stakeholder perspectives, even including live interactions with Synthetic User stakeholders  

These tools ensure that insights are not only understood, but also embedded into decision-making across the organization. 

How AI Can Enhance the Future of Patient Journey Research 

Rare disease patient journeys will continue to evolve as new technologies, therapies, and information sources emerge. 

To keep pace, research approaches must expand accordingly—capturing the full ecosystem of influence, incorporating new patient behaviors, and leveraging innovative tools to deepen understanding. 

Organizations that embrace this more comprehensive, hybrid approach will be better positioned to: 

• Accelerate diagnosis  

• Improve access and adherence  

• Deliver more meaningful patient support  

• Develop strategies that truly reflect the lived experience of rare disease  

Key Takeaways 

• Rare disease journeys extend beyond patients and physicians to a broader stakeholder ecosystem  

• Synthetic Users enable scalable insight across hard-to-reach perspectives  

• AI is becoming an integral part of how patients research and navigate their journey  

• A hybrid research approach—combining human insight with AI-enabled exploration—delivers the most complete understanding  

• Moving from linear journeys to ecosystem-based frameworks unlocks deeper, more actionable insight