Living With a Rare Disease: Life Without Words

When your child is diagnosed with a condition you’ve never heard of, your world flips upside down. When that condition is so rare that fewer than 100 people in the entire world have it, it’s hard to even put into words what that feels like.

This is Wyatt’s reality.

When we first got his diagnosis- Lessel-Kreienkamp Syndrome (AGO2-related neurodevelopmental disorder) I remember thinking, What even is that? I had never heard the name before. Neither had most doctors. I went straight to Google, desperate to find answers, and came up with almost nothing. There were no clear guidelines, no long-term outlook, no community of families I could easily connect with. Just… silence.

That’s what makes this journey so lonely.

With most conditions, there are specialists, research, and support groups. With Wyatt’s condition, the unknown feels endless. Every appointment with a new doctor starts the same way—they flip through the few pages of his records, search their own databases, and admit they’ve never treated a child with this diagnosis. We’re teaching them as much as they’re trying to help us.

There are no roadmaps, no predictions. Nobody can tell me what the future holds. Will Wyatt progress steadily? Will he regress like some children with this syndrome have? Will puberty change everything? These questions live in the back of my mind every single day.

The scariest part is knowing the syndrome was only identified in 2020. There are only a handful of children like Wyatt. The oldest known individual with it is just in their early twenties. There is no “this is what to expect” manual. Every step we take feels like uncharted territory.

What is Lessel-Kreienkamp Syndrome (AGO2)?

For those who are reading this and wondering, here’s what we know:

Lessel-Kreienkamp Syndrome is caused by mutations in the AGO2 gene, which is important for brain development and function. It’s an ultra-rare genetic neurodevelopmental disorder that can cause:

• Global developmental delays (in walking, speech, and motor skills)
• Severe speech impairment (many children remain non-verbal)
• Intellectual disability
• Behavioral differences, often overlapping with autism traits
• Other neurological and physical symptoms, depending on the individual

Because it’s so rare, there is very little research. Each child seems to present differently, which makes predicting outcomes nearly impossible.

The unknown is terrifying. Some days, it’s overwhelming. But then there’s Wyatt - smiling, laughing, showing me in his own way that he’s happy. He may not have the words, but he teaches me something new about resilience every single day.

Living with a rare disease is isolating, but it also forces you to appreciate the little things. The milestones that other parents might overlook -watching a movie together, hearing a belly laugh, a moment of connection becomes everything.

I don’t know what the future holds, and that uncertainty is hard to live with. But what I do know is this: Wyatt’s life is filled with love, joy, and meaning. And that’s what we hold onto, even in the face of the unknown.

Kerri