Key Points
- Rare disease patients often endure a lengthy and challenging path to get an accurate diagnosis, seeing multiple specialists and receiving conflicting opinions.
- Patients can suffer from worsening health, financial difficulties, and strained personal relationships due to the uncertainty and trial-and-error process of diagnosing rare diseases.
- Condition pages with clear, reliable information on symptoms, diagnosis, research, treatment options, and support services help patients and caregivers make informed decisions.
- Sharing personal stories fosters a sense of community, reduces isolation, and provides practical advice and inspiration, offering valuable insights alongside professional medical perspectives.
- Learn how PatientWing can partner with you to develop these resources!
The diagnostic odyssey of rare disease patients
The term ‘diagnostic odyssey’ refers to the prolonged and challenging journey that many patients with rare diseases, along with their families, endure in their quest for an accurate diagnosis — a journey that can span decades. Throughout this journey, patients are often seen by numerous healthcare professionals across multiple specialties, all of which provide opinions and diagnoses that may be diverging. Due to the multisystem nature of many rare diseases, and since clear communication between healthcare facilities is often difficult, these diagnoses are frequently incorrect. The involvement of so many professionals in this medical journey often indicates that the whole picture of the patient is not being assessed.
Throughout this diagnostic journey, patients are undiagnosed and experience little-to-no relief of their symptoms. They may also face doubts and dismissal from healthcare personnel that leads to feelings of isolation, fear and stress. These emotions are associated and compounded with deterioration of physical and mental health, financial difficulties, impacted career and education opportunities, and affected personal relationships.
When working with the unknowns of rare diseases, there is often a process of trial and error. It is therefore important that healthcare professionals across specialties work together to provide the best outcome for the patient.
It is also important to provide necessary resources that inform the patient throughout their journey and provide the tools and assistance to help them advocate for themselves.
The Role of Condition Pages
Comprehensive Information Hubs
Over 10,000 rare diseases are estimated to affect more than 400 million people worldwide. Only 5% of these conditions have an FDA-approved drug, leaving most patients searching for promising treatments on their own. Patients often turn to online resources to understand their symptoms, learn about diagnosis methods, explore treatment options, discover ongoing research, and find support services.
At PatientWing, we aim to offer reliable, patient-friendly resources for patients and their families. Our condition pages cover symptoms, the typical diagnosis journey, ongoing research, treatment options, and available support for the rare diseases we specialize in.
Empowering Patients and Caregivers
Our condition pages help patients and caregivers further understand their disease and make informed decisions. Having reliable, easy-to-understand information readily available provides comfort and guidance for the next steps in their healthcare journey.
The Power of Patient Stories
Human Connection and Empathy
The impact of human connection and empathy is profound in a patient's medical journey. Finding reassurance in knowing that we are not alone creates a powerful bond, especially when sharing experiences with others who have similar conditions. In the rare disease community, discovering commonalities fosters a sense of belonging and helps reduce feelings of isolation.
We've found that the best way to learn about a rare condition is through personal conversations with patients and families who are directly affected. These conversations offer a firsthand view of the challenges, barriers, and needs within the patient community. Newly diagnosed patients benefit greatly from connecting with others who share their condition, as they can exchange experiences and insights about daily life with a rare disease. These personal perspectives complement those from healthcare professionals, adding valuable and relatable insights.
Inspiration and Hope
Patient interviews are a source of inspiration and hope for others affected by rare diseases. We are continually amazed by the strength and resilience of rare disease patients, who strive not only to survive but to lead full and impactful lives. In these interviews, patients share their personal stories, real-world advice, and practical tips for others navigating similar paths. Our goal is for each story to resonate within the rare disease community, showcasing relatable experiences from diverse backgrounds and highlighting the uniqueness of each patient's journey.
We encourage patients, their families, and healthcare professionals to explore these stories. They offer invaluable insights into the pain points, needs, and barriers that patient communities face in accessing current or developing therapies. By understanding these experiences, we can all contribute to better support rare disease patients.
“Finding people online adds a level of comfort to a diagnosis that may not have been there before. I am always going to relate to a patient more than I will a provider or a company.”
Hannah, Eosinophilic Esophagitis Patient
Conclusion
Call to Action
To healthcare organizations and companies, we encourage you to support patient groups and invest in creating patient-friendly resources that can expedite the diagnostic journey.
We also invite readers to share their stories or get involved in patient support initiatives. Together, we can help the rare disease community find treatments and raise awareness to make a meaningful difference in the lives of those affected by rare diseases.
Patient Story Submission
Additional Resources
Here are some resources you can follow to learn more about how you can contribute to condition pages and patient stories for the rare disease community.
Links to Further Reading
