Rare Disease Patient Journeys: Key Findings from a PatientSight Study

No two rare disease journeys are the same, but there are many shared experiences that are revealed in this large 2025 study of nearly 400 patients and caregivers across 15 rare conditions. 

🧭 Diagnosis Delays & Complexity

Long, Uncertain Paths to Diagnosis
Many patients waited years and saw multiple physicians before specialists, genetic tests, or critical events finally led to an accurate diagnosis. These prolonged journeys are marked by frustration, uncertainty, and emotional distress—underscoring the need for earlier screening, better referral pathways, and stronger rare disease awareness among frontline providers.

💊 Treatment Access & Satisfaction

Access Achieved, but Barriers Remain
Most respondents eventually receive prescribed treatments, yet cost, insurance restrictions, and limited FDA‑approved options continue to pose challenges. While overall satisfaction with therapy is relatively high, dissatisfaction persists due to side effects, limited effectiveness, and financial burden.

🧠 Impact on Daily Life & Well‑being

Symptoms Shape Everyday Living
Fatigue, pain, and mobility limitations are the most commonly reported symptoms. Many work, study, or parent while managing unpredictable health, while others are homebound or disabled. Physical restrictions, mental health strain, and financial stress emerge as the top challenges—often reducing quality of life and contributing to social isolation for both patients and caregivers. Research participants emphasize family, adapted hobbies, community support, and the challenge of balancing normalcy with ongoing care needs.

🌐 Information & Support Networks

Community and Guidance Matter
Healthcare providers, advocacy organizations, and online communities are critical sources of information and emotional support. While these networks help patients make informed decisions, notable gaps remain—particularly around education and communication on advanced therapies such as cell and gene therapies.

🧪 Clinical Trials & Research Participation

Interest High, Participation Limited
Awareness of clinical trials is relatively strong, but participation is constrained by strict eligibility criteria, geographic distance, and safety concerns. Many respondents want greater opportunities to engage in research, highlighting the need to expand access and address patient hesitations.

🏥 Healthcare System & Industry Support

Mixed Experiences, Clear Expectations
Patients report uneven experiences with the healthcare system and call for more knowledgeable providers, faster diagnoses, and more affordable care. Nearly half receive no support from pharmaceutical companies. Desired improvements include better education, financial assistance, and more personalized, proactive communication throughout the treatment journey.

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