Rare diseases may be individually uncommon, but collectively they affect an estimated 30 million people in the United States. Yet for many patients, the path to diagnosis spans years, sometimes decades. Symptoms appear one at a time. Specialists treat them in isolation. Data lives in disconnected systems and the full picture remains out of view.
In our HealthVerity webinar, The Missing Pieces: How Rare Disease Diagnoses Come Together, we explored what it takes to connect those fragments, clinically and analytically, to move patients closer to answers.
The conversation brought together perspectives from patient advocacy and real-world data:
Together, they illustrated how rare disease diagnosis is both deeply human and deeply data-driven.
Sabina described a rare disease diagnosis as “trying to put a puzzle together without the picture on the front of the box.” Patients experience cardiac symptoms, gastrointestinal issues, neuropathic pain and other complications, often years apart. Each specialist sees a single piece. Few see the whole.
For women with X-linked conditions such as Fabry disease, the journey can be even more complex. Sabina shared how symptoms were dismissed or attributed to stress, delaying recognition of the underlying genetic cause. Meanwhile, clinical trials often excluded patients like her, further limiting access to care. The burden does not stop at the individual. A single rare disease diagnosis can affect multiple family members, raising the stakes for earlier detection and coordinated care.
From a data perspective, Bridget explained that the rare disease diagnostic journey is visible, but scattered.
Early signals may appear in medical and pharmacy claims as repeat specialist visits or symptom-based treatments. EHR data may contain narrative clues in physician notes. Lab results may show subtle abnormalities long before a confirmatory genetic test is ordered. Yet in isolation, each source lacks context.
The turning point comes when these data streams are brought together longitudinally. When claims, EHR, lab results and clinical notes are synchronized around patient identity, patterns emerge earlier. Multisystem involvement becomes visible. True baseline disease burden can be characterized. And researchers can identify more accurate cohorts for clinical development and post-market evidence generation. Linkage does more than add volume. It changes timing and clarity. It allows life sciences teams to see the patient journey before and beyond a diagnosis code.
As regulatory agencies place greater emphasis on real-world evidence in rare disease and ultra-rare conditions, the ability to construct comprehensive, privacy-protected patient journeys is becoming essential.
taXonomy Pathways is built to do exactly that. By combining the nation’s largest closed claims universe with lab results and EHR data, including physician notes, taXonomy Pathways delivers research-ready, therapeutic area-specific datasets that reveal the signals claims alone cannot.
If your team is working to design more representative clinical trials or generate robust post-market evidence for rare disease, explore how taXonomy Pathways can help you close the gaps or watch a replay of the webinar here, to learn more.