Most people don't know what Kabuki Syndrome is. I didn't either until it became a part of my son's life.
Colton is 15 months old and lives with Kabuki Syndrome, a rare genetic condition that affects nearly every part of his development.
There was a moment while we were in the NICU when we were waiting for answers - genetic testing, unknowns, trying to prepare for something we couldn't fully understand. And when the diagnosis finally came, everything changed and somehow, nothing did at the same time. Some days are beautiful in ways I never expected and some days hit you in the gut. Both can be true at the same time.
A typical day for Colton doesn't look like most children's days. It looks like a feeding tube, blended food and medications carefully timed and measured, feeding therapy sessions that require patience most people will never have to learn. It looks like weekly physical therapy and weekly occupational therapy.
It looks like multiple appointments per week and just as many meetings sometimes where we have to sit across from providers and prove, over and over again, that my child needs support.
Where I have to sit and listen to people describe him using words like "severely disabled", "profoundly disabled". These words land heavy. Words that reduce a whole, complex, beautiful child into something that fits on paperwork. And, we nod while choking back tears because we have to. Because that is how we get him what he needs. But, that's not who he is...
Because behind all of this, Colton is a child who is trying. Every. Single. Day. He works harder than most people will ever understand just to do things that come naturally for other children. Every step forward is fought for and every small gain is earned. Yet still, there are moments of joy. Moments where he shines in ways that don't fit neatly into any diagnosis.
Most of the world will never see any of this. They won't see the effort, the exhaustion, the advocacy, the very quiet grief that comes with loving a child whose path is so uncertain because Kabuki Syndrome is rare and when something is rare, it is often overlooked and underfunded.
The invisibility has real consequences for families like mine and for children like Colton which is why I'm sharing this.
I'm participating in the Kabuki Syndrome Foundation's "Fuel the Future" fundraiser to help bring awareness, funding, and hope to a community that needs it. If you're able to donate, it truly matters. And if you're not, sharing this helps more than you know! All of it matters because the more people who see Colton, the less invisible Kabuki Syndrome becomes.
Thank you for stepping into our world, even for a moment.
-Annie