Undiagnosed & Ultra-rare Diseases Diagnostic Program

We believe that everyone deserves a diagnosis, regardless of their financial status or where they live.

The Challenges of Diagnosis

Undiagnosed and ultra-rare disease patients desperately need diagnostic programs tailored to their specific circumstances. One in ten people have a rare disease. Considering that 30 million individuals live with a rare disease in the United States, and a rare disease diagnosis takes an average of 5 to 7 years and up to 12 specialists, millions of individuals currently face the uncertainty of an undiagnosed disease.

The journey towards a diagnosis can stretch across decades. The “diagnostic odyssey” is characterized by a frustrating and costly cycle of medical consultations devoid of answers. The repercussions of undiagnosed conditions are extensive, encompassing treatment delays, restricted access to specialized care, invasive and expensive tests, emotional turmoil, and a profound sense of isolation.

Alarmingly, delays in diagnosis disproportionately affect historically marginalized communities, where healthcare disparities exacerbate an already challenging situation. Underserved communities may experience lower diagnosis rates for rare diseases due to the inequitable distribution of resources and living in areas with few practicing specialists.

The UDNF’s Vision

The UDNF collaborates closely with the Undiagnosed Diseases Network (UDN) to advance patient-centered research and clinical care, enabling undiagnosed patients and families to get the answers they desperately need. We envision making the diagnosis of undiagnosed and ultra-rare diseases more accessible, equitable, accurate, and efficient. This patient-centered approach will also advance the diagnosis and knowledge of more common diseases.

We believe this vision can be achieved through a combination of strategies and that will have a transformative impact on the lives of patients with undiagnosed diseases, and our entire healthcare system.

Streamlining diagnosis: The UDNF’s diagnostic program will reduce the painstaking journey to a diagnosis. By providing a central hub for information, testing details, innovative diagnostic tools and services, patients will be equipped with the resources needed for a more efficient diagnostic path. From the very onset of their symptoms through their diagnostic journey, the UDNF will provide the resources, community, and research they need to get a diagnosis.
Innovative research advances: From the start of the diagnostic journey and beyond, the UDNF will fund and support innovative approaches and technologies to achieve diagnosis and collaborative research, harnessing the collective effort of patients, families and professionals to uncover insights and breakthroughs for undiagnosed and ultra-rare diseases. This will be accomplished through establishing collaborations with diagnostic testing experts, companies and other patient advocacy partners.

Coordinated care: Navigating complex healthcare systems will be made easier with the UDNF Patient Navigation Program. Navigators will aid in coordinating care, ensuring open communication between providers, and guiding patients toward accurate diagnoses and effective treatments. The UDNF will provide one-on-one support to help patients navigate the healthcare system and connect them to the providers they need to get a diagnosis. The Patient Navigation program will provide one-on-one case management to patients and families with undiagnosed and ultra-rare diseases, guiding them through the diagnostic odyssey.

Inclusivity and equity: The UDNF will prioritize underserved communities by training providers to address diverse patients’ unique needs, addressing healthcare disparities, and providing equitable access to timely diagnosis. The UDNF will launch an initiative to expand access to advanced diagnostic testing for patients with undiagnosed diseases. This will help patients get the diagnoses they need more quickly. The UDNF is committed to ensuring equitable access to diagnosis, acknowledging that historically marginalized communities experience greater obstacles to achieving a diagnosis.

By supporting the UDNF’s Diagnostic Program, you will play a pivotal role creating a future where diagnoses are accessible, care is comprehensive, and hope is restored. Your contribution will not only support patients living with undiagnosed and ultra-rare diseases, it will have a lasting impact beyond.

Thank you for your support! Together, we can make a difference in the lives of patients with ultra-rare diseases.