Signals in the Noise: Rethinking How We Diagnose Rare Diseases
By Sarayah Brenda Obonyo, MSIM
University of Washington, Master of Science in Information Management
Introduction
Every rare disease community has stories of diagnostic delay. For patients with conditions like vasculitis, early symptoms are often vague and mimic common illnesses. As a result, patients can spend anywhere from six months to over three years searching for answers, with the longest delays disproportionately impacting women and people of color.
But what if the problem isn't always a lack of medical knowledge? What if it is an information problem?
Through my MSIM Practicum Project, mentored by misinformation expert Jevin West and practicum instructor Nick Hernandez, I explored how clinical information is collected, interpreted, and sometimes lost. I created "Signals in the Noise," an evidence-informed training module designed to help us understand and overcome the information failures that delay rare disease care.
The 5 Diagnostic Information Failures
-
Cognitive biases, like anchoring or confirmation bias, that skew clinical reasoning.
-
How online health information can prematurely narrow a diagnosis or lead to misinterpretation.
-
Healthcare system barriers, like 15-minute appointment limits and prior authorization hurdles, that block timely care.
-
Critical insights, like an abnormal blood pressure reading, that are lost or omitted between patients and their care teams.
-
Prematurely closing a case and failing to reassess a diagnosis when new evidence emerges.
Why This Matters for You
For Patients & Advocates
Your experiences are valid, and the barriers you face are real. This project acknowledges that delayed diagnosis isn't just "bad luck." It's often a systemic issue influenced by communication breakdowns and structural barriers. This module trains providers to actively listen to your online research rather than dismiss it, and to close communication loops so your critical symptoms are never ignored.
For Doctors & Healthcare Providers
This isn't about placing blame; it's about equipping you with practical tools for the 15-minute clinic visit. The module translates ACR/EULAR guidelines into actionable clinical habits. It offers a rapid playbook of "Five Habits That Cut Delay," including generating alternate diagnoses, documenting red flags to push through prior authorizations, and utilizing a short bias check: "What else could this be?".
For Researchers & Educators
Built on a rigorous literature review of peer-reviewed research and landmark guidelines from the last decade, this project bridges the gap between information science and medical education. It serves as a scalable framework that can be adapted for a broader range of rare and complex diseases beyond vasculitis.
Explore the Project
The challenge in rare disease care is rarely the absence of information. It is recognizing the right signal before it is lost in the noise.
I invite you to review the full training module below. Together, we can ensure that patients with rare diseases have fewer stories of delay.
View the "Signals in the Noise" Slide Deck Here