Rare Disease Day is only the beginning. Learn why early diagnosis, quality genomic data, and advocacy must work together—and how GeneDx helps drive action for rare disease.
February 6, 2026 • 8 min read
More than 30 million Americans are affected by a rare disease, many of them children.¹ While awareness of rare diseases has grown, families still face long waits for answers, limited treatment options, and fragmented care. In recognition of Rare Disease Day 2026, the focus must extend beyond visibility alone.
This year, the rare disease community is invited to Go Beyond Aware for Rare, turning awareness into earlier answers, stronger coordination, and progress that improves outcomes for patients and providers.
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.
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:
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.
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.
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.
At GeneDx, we are bringing diagnosis, data, and advocacy together to drive meaningful change for people affected by rare disease. le 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
Rare Disease Day is an opportunity to take action that helps shorten the path to answers and improve outcomes across the rare disease community.
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.
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.
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.
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.
References: 1. Tisdale, A., Cutillo, C.M., Nathan, R. et al. The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems. Orphanet J Rare Dis 16, 429 (2021). https://doi.org/10.1186/s13023-021-02061-3. 2. Marwaha S, Knowles JW, and Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w. 3. Hayeems RZ, Michaels-Igbokwe C, Venkataramanan V, et al. The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence. Genet Med. 2022 Mar;24(3):694-702. doi: 10.1016/j.gim.2021.11.005. 4. Al-Attar M, Butterworth S, McKay L. A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease. Orphanet J Rare Dis. 2024 Apr 19;19(1):172. doi: 10.1186/s13023-024-03143-8. 5. Genetic Alliance UK. Rare Experience 2020. Retrieved March 5, 2025 from https://geneticalliance.org.uk/wp-content/uploads/2024/02/Rare-Experience-2020-Report-updated-May-2021-.pdf. 6. The Lancet Global Health. The landscape for rare diseases in 2024. Lancet Glob Health. 2024 Mar;12(3):e341. doi: 10.1016/S2214-109X(24)00056-1. 7. US Government Accountability Office.Rare Disease Drugs: FDA Has Steps Underway to Strengthen Coordination of Activities Supporting Drug Development. Retrieved February 2, 2026 from https://www.gao.gov/products/gao-25-106774. 8. Bavisetty S, Grody WW, Yazdani S. Emergence of pediatric rare diseases: Review of present policies and opportunities for improvement. Rare Dis. 2013;1:e23579. doi: 10.4161/rdis.23579. eCollecion 2013.