Celebrating Every INCHstone for Rare Disease Day

Written by: mejo

At mejo, Rare Disease Day is a reminder that every step—every little victory—matters. Today, we celebrate the resilient spirit of families facing rare diseases, and we’re honored to share the inspiring journey of one of our community members Cristina and her son, Matthew.

A Life Transformed by Love and Courage

Matthew is a 5-year-old warrior diagnosed with four rare conditions: Chromosome 8p, Agenesis of the Corpus Callosum, Intestinal Malrotation, and Adrenal Insufficiency. His diagnosis turned his family’s world upside down.

"Matthew changed our life at 180 degrees. shares Cristina. Despite being wheelchair-dependent and non-speaking, Matthew’s spirit shines through every day. His long list of diagnoses does not define him; instead, he teaches us to appreciate every tiny moment—the INCHstones that build a beautiful life."

A Mother’s Journey: Challenging Yet Unconditionally Loving

Caring for a child with rare diseases is both challenging and profoundly rewarding. Cristina reflects on her experience as a rare disease mom:

“It's challenging being Matthew's mom, but I wouldn't change him for the world, but I would absolutely change the world for him.”

From deciphering his silent cues to managing everyday routines, every day brings new hurdles—and new hopes. There are moments when uncertainty takes hold, and questions like “Why me? Why us?” echo in the quiet. Yet, amid these challenges, Cristina holds onto a powerful hope:

“Even if walking and talking can be difficult for these individuals… I believe that he will do these things one day. This hope keeps me going every day.”

Her words remind us that every family’s journey is uniquely their own, and every small step is a victory worth celebrating.

A Day in Matthew’s World

Matthew’s day is a blend of structured routines and spontaneous discoveries that capture the heart of his journey. Mornings begin with the essential, helping him wake up and head to the bathroom as they work on potty training. Even this simple act is a step toward greater independence.

After a “mini breakfast” (a nod to those early-morning moments when appetite and mood don’t quite align), Matthew’s face lights up at the sight of the school bus. Whether it’s a snowy, rainy, or chilly winter morning, that bus ride is a treasured moment of joy and anticipation.

Afternoons bring homecomings filled with warmth. After a big lunch, Matthew settles in with his favorite TV show, Ms Rachel, and finds delight in the simplest of things—even something as ordinary as the long cord of a vacuum cleaner can spark his curiosity. His playful interactions with his sister remind us that exploration and discovery are essential parts of growing up.

Evenings are a gentle blend of care and flexibility. Whether bath time comes before or after dinner, or bedtime varies between 6:00 pm and 7:30 pm, each moment is tailored to Matthew’s needs. Innovative touches, like oil tinctures and magnesium lotion, have transformed his sleep routine—proving that even small adjustments can make a big difference.

How mejo Empowers Families

Navigating the complexities of rare diseases often means managing countless medical appointments and therapy sessions. This is where mejo makes a world of difference. Cristina shares how our platform has become an invaluable tool:

“Going to a new Dr's appt or a new therapy clinic is so easy and time saving to just give them the information about everything they need.”

Having a comprehensive, concise health journal—downloadable and printable—means that every new evaluation is smoother and less stressful. At mejo, we’re committed to supporting families by ensuring that every critical piece of information is at your fingertips.

Connecting beyond the chart

mejo's new Visual Narrative Feature in collaboration with Seattle Children's is changing the game for families like Matthew’s. This innovative tool will help providers, therapists, and caregivers get to know an individual beyond their diagnosis. By offering a rich, visual story of daily routines, milestones, and personal quirks, it promises to add a whole new dimension to patient care and understanding.

"Being able to show a video to Matthew's Doctors of him defying the odds is so cool!"

Rare Disease Day is more than just an awareness event—it’s a celebration of resilience, love, and the unique journeys of families facing extraordinary challenges. For families like Matthew’s, every inch of progress is a victory, every smile a beacon of hope, and every shared moment a testament to the strength of the human spirit.

If you’re inspired by Matthew’s journey and the resilience of families in our community, we invite you to join us. Share your story, connect with others, and help us build a world where every inch of progress is celebrated.

To follow Matthew’s journey and connect with our vibrant community, visit or follow @matthew8pjourney on Instagram

To learn more about Chromosome 8p: https://project8p.org/

Together, we can change the world—one INCHstone at a time.