Rare Disease Day holds a powerful and personal meaning for our family—a day to shine a light on the rare, the unheard, and the uniquely resilient.
Hudson’s story began to shift at eleven weeks old when he experienced his first seizure. It was later on his first birthday that he was diagnosed with Chromosome 14q deletion including PACS2, a condition so rare there are only a handful of documented cases worldwide. To say it was isolating would be an understatement. Chromosome 14q deletions, especially those involving PACS2, are some of the rarest genetic conditions known. With that kind of rarity comes layers of complexity—developmental delays, epilepsy, medical hurdles, and the relentless search for answers. Every child’s story is unique, yet what binds us is the resilience that shines through in the face of the unknown.
For our family, awareness of rare conditions is not just about statistics or medical terminology. It’s about holding on to hope when it feels like you’re holding a single thread in a vast, overwhelming universe. The road is often challenging, but we’ve found beauty in finding joy, celebrating every small victory, no matter how insignificant it might seem to others. Each moment of progress feels monumental, and each tiny milestone is a testament to Hudson’s strength and the love that surrounds him.
Did you know the zebra is the symbolic animal for Rare Disease Day? It comes from the medical adage, “When you hear hoofbeats, think horses, not zebras.” Doctors are trained to look for the most common explanations first, and while that can be the right approach, this phrase also reminds us that zebras—those rare conditions—do exist. For families like ours, raising awareness is about making sure these “zebras” are never overlooked.
Rare diseases may affect fewer than 200,000 people per condition, but collectively, they touch the lives of nearly 30 million Americans. Within this umbrella, many genetic syndromes, including Hudson’s, are linked to epilepsy—another battle that many rare disease families face together. These are conditions that impact individuals, families, and communities in ways that are hard to measure and impossible to forget.
Rare Disease Day is a call to action: to learn, to advocate, and to support the rare. Awareness isn’t just about acknowledgment; it sparks research, builds understanding, and fosters a more compassionate world. It’s about connecting the threads of isolated experiences into something greater—a collective, beautiful, and indomitable tapestry of hope. If you’d like to learn more or find ways to take part, please visit https://rarediseases.org/. Every small action, whether it’s sharing a post or starting a conversation, makes a difference.
To those navigating life with a rare condition or supporting someone who is—you are not alone. Your strength amazes us. Your hope fuels us. Your courage reminds the world that every person, no matter how rare their story, deserves to be seen, supported, and celebrated. Together, we come one step closer to a world where rare doesn’t mean invisible.
This Rare Disease Day, we honor families like ours and ask you to join us—share, learn, advocate. Listen for the hoofbeats of zebras and remember that every life is worth the care, the research, and the fight. Because together, we are stronger.