Rare Disease Day: Moving Beyond Awareness to Action

Key Takeaways

• More than 30 million Americans live with a rare disease, yet many families still face long diagnostic journeys and limited treatment options.
• Earlier genetic testing can help shorten the path to diagnosis and guide more informed clinical decisions.
• Large-scale genomic data initiatives such as GeneDx Infinity™ help accelerate rare disease research and discovery.
• Rare Disease Day highlights the importance of turning awareness into action through diagnosis, data, and advocacy.

What Is Rare Disease Day?

Rare Disease Day is a global movement that brings together patients, caregivers, healthcare providers, advocacy organizations, and industry partners to elevate the needs of people living with rare conditions. Observed each year on the last day of February, a date chosen for its own rarity, it serves as a moment of recognition for a community that is too often overlooked.

The Reality Behind Rare Disease

For many families and providers, the rare disease journey begins with unanswered questions. Symptoms are often unclear or overlap with more common conditions. Care can involve multiple specialists and repeated testing without a clear diagnosis.

The reality for many families looks like this:

• Waiting up to 5 years to receive an accurate rare disease diagnosis.²  
• A diagnostic journey that averages 16+ medical tests³ and 4+ specialists.⁴  
• 40% of people with rare diseases have been misdiagnosed.⁵
• 30% of children with a rare disease die before age 5 years.⁶  

During that time, uncertainty affects medical care, emotional well-being, and financial stability. Even when a diagnosis is found, options can be limited. Today, fewer than 5 percent of rare diseases have an FDA-approved treatment.⁷

These realities highlight why Rare Disease Day must focus on awareness and action. Progress depends on shortening the time to diagnosis, improving access to care, and ensuring families and providers have clear paths forward.

Why Early Diagnosis Matters for Rare Disease Patients and Providers

Early diagnosis can change what is possible for patients and their families. It can reduce unnecessary procedures, support earlier clinical decisions, and help families access appropriate care and resources sooner.

Because approximately 80 percent of rare diseases are genetic in nature 8, understanding a patient’s genetics can help identify the cause of a condition and inform more precise treatment decisions. When used earlier in the diagnostic process, genetic testing can help providers move from uncertainty to clarity with greater confidence.

Early genetic insight supports informed decision-making at moments when timing and accuracy matter most.

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How Genomic Data Drives Progress in Rare Disease Diagnosis and Treatment

Diagnosis is a critical step, but progress depends on what happens next.

GeneDx Infinity™ is designed to turn individual diagnoses into shared knowledge that can accelerate progress across the rare disease ecosystem. By responsibly aggregating genomic and clinical data at scale, GeneDx Infinity could help researchers, clinicians, and advocacy groups identify patterns, refine disease understanding, and uncover insights that would not be visible from isolated cases alone. patterns, refine disease understanding, and uncover insights that would not be visible from isolated cases alone.

GeneDx Infinity ™ supports progress by enabling:

• Broader understanding of rare disease patterns through large-scale genomic and clinical data
• More confident interpretation of genetic findings as new evidence emerges
• Faster research and discovery by connecting diagnoses across time and populations

Every test contributes to a growing data foundation that supports clinical decision-making today while advancing discovery for the future. When individual diagnoses are connected within a broader data ecosystem, insights gained from one patient could help inform care, research priorities, and advocacy strategies for many others.

How GeneDx Connects Diagnosis, Data, and Advocacy in Rare Disease

At GeneDx, we are bringing diagnosis, data, and advocacy together to drive meaningful change for people affected by rare disease.

Progress does not happen in isolation. A diagnosis provides answers for an individual patient, but those answers reach their full potential only when supported by high-quality data and paired with advocacy that drives action. When these efforts are disconnected, families face delays, providers lack clarity, and opportunities for progress are missed.

Our role is to help close those gaps.

We support earlier diagnosis by helping clinicians identify genetic causes sooner, particularly in complex and unexplained cases. We contribute high-quality genomic data that strengthens understanding over time, informing care, research, and discovery. We also work alongside advocacy organizations and partners to help ensure insights gained through testing and data translate into education, access, and long-term impact.

This connection benefits the entire rare disease community:

• Providers gain clearer insight to guide care decisions
• Families receive earlier answers that are grounded in evidence and supported by community
• Advocacy organizations are equipped with data that strengthens awareness, funding, and policy efforts  

How to Participate in Rare Disease Day

Rare Disease Day is an opportunity to take action that helps shorten the path to answers and improve outcomes across the rare disease community.

For Patients and Families

Your story is one of the most powerful tools for driving change. Advocacy begins when real-world data is paired with patient and caregiver experiences to extend reach and impact.

• Share your journey: Share your story on social media using hashtags like #RareDiseaseDay. Make sure to tag us so we can share on our channels. Personal stories help highlight why earlier answers matter.
• Connect with advocacy groups: Join forces with patient advocacy organizations across the rare disease community. Collaboration amplifies advocacy efforts and helps ensure patient voices are heard by decision-makers.  

For Clinicians and Healthcare Providers

You are on the front lines of the diagnostic journey, often recognizing when something does not fit a common explanation.

• Test early:Consider genetic testing as a first-line diagnostic tool for patients with unexplained or complex symptoms. Early insight can help prevent years of uncertainty.
• Educate peers: Challenge common myths about rare disease. While individual conditions are rare, collectively they affect millions of patients worldwide.
• Collaborate: Use genetic insights to guide care decisions and help connect patients to clinical trials, registries, or additional resources when appropriate.  

For the General Public, Advocacy Groups, and Allies

Support from the broader community plays an essential role in advancing rare disease awareness and action.

• Light Up for Rare: On February 27 and 28, participate in the global Light Up for Rare initiative by illuminating homes or landmarks in the rare disease colors of pink, green, blue, and purple to show solidarity.
• Amplify accurate information: Share content that dispels common misconceptions to help break down barriers to care and understanding.
• Connect with the GeneDx Patient Advocacy Team: Learn more about how we can partner to support your advocacy goals. Fill out this form to get in touch with a member of our patient advocacy team.  

Together, these actions help ensure that awareness leads to earlier diagnosis, stronger evidence, and sustained progress for people living with rare disease.

Beyond Awareness: How We Create Impact After Rare Disease Day

Rare Disease Day creates space to reflect on where progress is being made and where gaps still remain. For people living with rare disease, and for those who care for and support them, what comes next matters.

Progress in rare disease does not happen all at once. It is built through consistent, coordinated effort and a shared commitment to improving how and when answers are found.