Dealing with an illness is distressing enough, but the challenges faced by those living with rare and chronic diseases are often compounded by diagnostic odysseys and lack of timely intervention. The reality for many individuals with rare diseases is a path marked by years of misdiagnosis, delayed treatment, and the emotional toll of uncertainty.
The inherent complexity of these conditions, coupled with the fact that many physicians may not encounter these diseases frequently in their practice, can contribute to diagnostic delays. Even after a diagnosis, treatment options can be limited, leaving patients and their families feeling understandably frustrated and sometimes helpless. We recognize that physicians are working tirelessly within a system that is often stretched thin, and these diagnostic challenges add another layer of complexity to their already demanding work.
This situation highlights a significant disparity in patient care. While advancements in treating more common conditions continue, patients with rare diseases can sometimes feel left behind, facing limited treatment options and a lack of research dedicated to their specific needs. It’s not a matter of a lack of commitment from healthcare providers, but rather a reflection of systemic challenges and the need for greater focus on this often-overlooked area.
The Diagnostic Odyssey of Rare Disease
For many rare disease patients, their first interaction with the healthcare system is with their family doctor. This initial consultation is truly a critical juncture. It’s often the first opportunity to flag disparate or unusual symptoms that require further investigation with a specialist. Recognizing these subtle or atypical signs can significantly impact the trajectory of the patient’s journey. Fortunately, advancements in technology—such as AI-powered clinical decision support tools—are helping physicians analyze patient data more effectively, identifying potential patterns that may suggest a rare condition.
Every physician is treating a rare disease patient—even if they aren’t aware. With over 300 million patients affected worldwide¹ and 1 in 12 Canadians having a rare disorder², the reality is that these conditions are far more prevalent than often perceived. Many others are affected or at risk but remain undiagnosed and unaware. With over 7,000 rare diseases identified¹ and medications becoming increasingly specialized and personalized, primary care physicians are faced with an immense task: maintaining a broad differential diagnosis and staying abreast of a vast amount of medical information.
While Canada’s universal healthcare system provides broad access to care, the very nature of rare diseases presents a diagnostic challenge that requires ongoing efforts to improve early detection and access to specialized expertise. Subtle or ambiguous symptoms can sometimes be easily overlooked, particularly given the inherent limitations of any healthcare system, including the need to prioritize resources and manage wait times for diagnostic testing.
Even when patients receive access to specialists, the variability in how rare diseases present themselves adds another layer of complexity. Symptoms can range widely, and the same condition may manifest differently in different individuals. This variability can make diagnosis exceptionally difficult, even for experienced physicians, and unfortunately contributes to missed or delayed diagnosis.
There is a strong need to support primary care physicians and specialists to help alleviate this diagnostic burden and to improve patient journeys. This includes equipping them with tools that can analyze patient data—such as information within electronic medical records—to identify potential patterns and flag patients who may be at higher risk for specific rare, complex, or chronic conditions. By leveraging technology to aid in early identification and prompt consideration of guideline-recommended diagnostics, we can help accelerate the diagnostic process, reduce delays in care, and ultimately improve patient outcomes. However, even when a rare disease is successfully identified, the challenge is far from over. Treatment options remain limited, and the path to developing effective therapies is equally complex.
The Crucible of Rare Disease Drug Development
The low success rate of clinical trials—only 7.9%³—underscores the immense time and resource investment required for drug development and commercialization, with the process often taking years, even decades, to bring a medication from initial research to patients. While the desire to address unmet medical needs is a driving force for many in the pharmaceutical industry, several unique challenges compound this already difficult process, making developing treatments for rare diseases particularly arduous. Understanding these challenges is crucial for fostering collaboration and driving progress in this important area.
The financial challenges of rare disease drug development are significant. Unlike medications designed for widespread conditions like diabetes or cardiovascular disease, rare disease therapies face unique economic hurdles. With smaller patient populations, pharmaceutical companies must weigh the financial risks of research and development against uncertain returns. While widely used medications often attract large investments and numerous clinical trials, rare disease treatments require alternative funding models and regulatory incentives to remain viable.
These challenges are not a reflection of a lack of interest or compassion within the pharmaceutical industry. Rather, they highlight the inherent complexities of developing treatments for rare diseases. By understanding these challenges, we can foster a more collaborative environment where researchers, healthcare providers, policymakers, and the pharmaceutical industry work together to overcome these obstacles and bring much-needed therapies to patients.
Bottom Line
Ultimately, bridging the gap in rare disease care requires a collective commitment. By empowering primary care physicians with enhanced tools and resources, improving access to specialized expertise, and fostering greater collaboration within the pharmaceutical industry, we can transform the patient experience. Success of these efforts would bring hope to the millions affected by these often-overlooked conditions. The journey is complex, but by working together, we can pave the way for a future where rare diseases are met with timely diagnoses, effective treatments, and comprehensive support.
About Khure Health
Khure Health, a HEALWELL AI company, is a healthcare technology company dedicated to empowering physicians in the management of complex and rare diseases. Traditional investments in technology have done little to help over-burdened physicians diagnose complex patients. Our AI Clinical Co-Pilot provides a comprehensive, integrated platform that helps clinicians identify high-risk patients, stratify their risk, and optimize treatment plans. By leveraging advanced analytics and clinical expertise, we aim to support improved patient care and clinical practice efficiency for physicians. Follow our page on LinkedIn and Twitter to stay up to date!
References:
1 Editorial (2024). The landscape for rare diseases in 2024. The Lancet Global Health, 12(3), e341. https://doi.org/10.1016/S2214-109X(24)00056-1
2 (Accessed Jan 2024). About CORD. Canadian Organization for Rare Disease. https://www.raredisorders.ca/about/about-cord
3 Kim E, Yang J, Park S, Shin K. Factors Affecting Success of New Drug Clinical Trials. Ther Innov Regul Sci. 2023 Jul;57(4):737-750. doi: 10.1007/s43441-023-00509-1. Epub 2023 May 11. PMID: 37166743; PMCID: PMC10173933.
