Amplifying Rare Disease Awareness Using a Symptom Checker

Challenge

Rare neuromuscular disorders are often marked by significant diagnostic delays, sometimes spanning 15–17 years. This delay is attributed to heterogeneous symptoms, limited awareness among non-specialist clinicians, and difficulties patients face in describing their symptoms. Many individuals endure years of misdiagnoses or inappropriate referrals before reaching a definitive diagnosis. The challenge was to create a multichannel strategy that raised public and clinician awareness of rare neuromuscular symptoms, guiding patients toward timely medical evaluations and specialist care.

Approach

A targeted multichannel strategy was developed, centered around the creation and deployment of an innovative Symptom Checker, a digital tool designed to improve awareness and facilitate early identification of symptoms suggestive of rare neuromuscular disorders.

Information Behavior Analysis

Search Behavior Insights:
- Conducted a qualitative survey involving diagnosed patients, families, and undiagnosed individuals to understand their online search behavior. Findings revealed:
  - Reliable information on symptoms was hard to find without precise search terms.
  - Patients often landed on unrelated or anxiety-inducing websites, increasing confusion and delay.
  - Insights from these behaviors informed the tool’s content and website optimization for better search visibility and user engagement.
Content Refinement:
- Collaborated with international specialists to shape the structure and usability of the Symptom Checker, ensuring alignment with clinical and patient needs.

Development and Features of the Symptom Checker

The tool utilizes a rules-based algorithm to assess symptom patterns through 9 core questions designed for clarity and accessibility.
Optimized for multiple devices (desktop, tablet, and smartphone), ensuring usability across demographics.
Provides a personalized report summarizing responses, intended to guide users in consulting healthcare professionals for further evaluation.

Outreach and Distribution

Collaboration with Patient Advocacy Groups:
- Partnered with advocacy organizations to distribute the Symptom Checker through their networks and events, expanding reach to undiagnosed individuals.
Healthcare Professional Engagement:
- Distributed educational resources and links to the tool to general practitioners and specialists, increasing awareness among non-specialist clinicians.

Outcome

The multichannel strategy achieved significant milestones in awareness and engagement:

Increased Awareness:
- Pilot evaluations of the Symptom Checker reached 200+ users, with many reporting greater clarity about their symptoms and next steps.
Empowered Patients:
- Users shared personalized reports with healthcare professionals, facilitating more informed consultations.
Advocacy Integration:
- Feedback from advocacy groups refined the tool’s content and outreach strategy, ensuring alignment with patient and community needs.

Key Takeaway

The Symptom Checker is a vital component of a successful multichannel strategy, bridging the gap between symptom recognition and timely medical consultation for rare diseases. By analyzing patient information behaviors and tailoring outreach efforts, this initiative underscores the value of digital tools in addressing diagnostic delays and improving outcomes for underserved patient populations.

Contact us to explore how innovative strategies and tools can transform awareness and diagnosis in rare diseases.