What Is Rare Disease Day?
Since 2008, the rare disease community has united every year on the last day of February to observe Rare Disease Day - a global movement that began in Europe and has grown to encompass voices across more than 100 countries. This symbolic date, chosen because it’s the “rarest” day of the year (February 29th in leap years), celebrates progress, community, and hope for the roughly 300 million people worldwide living with rare diseases.1
What started as a grassroots effort has brought together patients, families, healthcare professionals, researchers, and policymakers to share stories, advance research, and improve care. The movement’s growth reflects an important reality: approximately 72% of rare diseases have a genetic origin, and around 70% present in childhood.2 For these families, Rare Disease Day is about connection, empowerment, and celebrating the advances that are transforming outcomes through the power of knowledge.
From Awareness To Action
Knowledge Can Change Everything
Historically, families navigating rare diseases have faced long journeys to diagnosis, often spending years searching for answers. But the landscape is changing rapidly. Today’s advances in genomic science are opening new doors, offering families the opportunity to understand their child’s health from the very beginning. This knowledge, comprehensive, actionable, and available from birth, is transforming how families approach their children’s healthcare.
This is where the idea of Rare Disease Day meets the power of modern genomic science.
The Power Of Genomics
Unlocking Your Child’s Genetic Blueprint
ViaCord’s Whole Genome Sequencing (WGS) test represents an exciting advancement in newborn health screening. Unlike traditional newborn screening that tests for a limited number of conditions, WGS uses a sample of cord blood to capture all 22,000 genes and analyze your newborn’s pristine DNA for potential disease-causing variants in the 2,500 genes with known associations to childhood onset conditions, as well as variants associated with medication sensitivities.
In fact, a retrospective study published in the Journal of American Medical Association (JAMA) found 1 in 12 apparently healthy newborns who used ViaCord's Whole Genome Sequencing carried genetic findings that could impact their health from an early age. 47% of these findings were associated with health conditions that could benefit from early intervention and medical management.
This statistic highlights an important opportunity. It means that among babies who appear perfectly healthy at birth, WGS can identify genetic variants that, when identified early, allow families and healthcare providers to take proactive steps to improve health outcomes.
Read the full publication in the Journal of American Medial Association (JAMA)
When it comes to healthcare, knowledge can translate into better outcomes, informed decisions, and peace of mind.
Empowering Families With Genetic Knowledge
When it comes to your child’s health, having information early creates opportunities that might otherwise be missed. Whole Genome Sequencing provides parents and healthcare providers with valuable genetic insights, enabling:
- A proactive approach to the child’s health and well-being
- Early intervention and a personalized health plan
- Access to your child's DNA blueprint from day one
For many genetic conditions, early knowledge can make a meaningful difference. When families have genetic information from the start, they’re equipped with the knowledge to work with their healthcare team to create proactive care plans, access appropriate resources, and make informed decisions about their child’s health journey.
Knowledge Transforms The Healthcare Journey
Understanding a child’s genetic profile early can open doors to better health outcomes. While the average time to receive a diagnosis for a rare disease has historically been 4.8 years3, genomic screening at birth offers a different path - one where families begin with knowledge rather than uncertainty.
This shift from uncertainty to knowledge is transformative. Instead of reactive care that begins only after symptoms appear, families can pursue proactive, personalized healthcare from day one. Information from the start means families can work with healthcare providers to optimize their child’s health before challenges arise.
Knowledge doesn’t just inform medical decisions; it can connect families with support communities and enable them to plan for their child’s future with confidence.
The Future Is Informed
The vision that sparked Rare Disease Day in 2008 - a world where people with rare diseases have access to diagnosis, treatment, and care - is becoming more achievable with each technological advancement. With tools like Whole Genome Sequencing, we’re moving toward a future where families have the knowledge they need to advocate for their children’s health and make empowered decisions from the very beginning.
Because when it comes to your child’s health, knowledge truly is power. And that power begins with understanding their unique genetic story.
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DISCLAIMER: Banking cord blood does not guarantee that treatment will work, and only a doctor can determine when it can be used. This is intended for educational purposes only and should not be used or interpreted as information on treatments or diagnoses.
REFERENCES
1. Rare Disease Day. (2026). “Rare Disease Day 2026 highlights global inequities and amplifies voices in call for lasting change.” Retrieved from https://www.rarediseaseday.org/news/rare-disease-day-2026
2. Rare Disease Day. (2026). “What is Rare Disease Day?” Retrieved from https://www.rarediseaseday.org/what-is-rare-disease-day/
3. Med-Tech World. (2026). “Rare Disease Day 2026: More Than You Can Imagine.” Retrieved from https://med-tech.world/news/rare-disease-day-2026-more-than-you-can-imagine/
