He Is Three. His Voice Isn’t Lost —It’s Waiting to Be Heard.

By Ashley Dimas

My son is three years old and living with a rare mutation in the PPP3CA gene — a neurodevelopmental disorder that has already rewritten the first chapters of his life. He faces physical and intellectual challenges every single day: global developmental delay, significant intellectual disability, hypotonia that makes basic movement a battle, and he is nonverbal. These are more than medical labels. They are the contours of a bright, determined little life that the world has not yet learned how to meet.

The urgency of his story cannot be overstated. By the time a genetic diagnosis finally arrived, critical months — even years — had slipped away. Milestones were missed while we waited for answers. Early concerns were minimized, and our pleas for help were too often brushed aside until delays became severe. That delay is not just a bureaucratic failure; it is lost opportunity — lost time for therapies that could have helped him build strength, communication, and independence. For a child whose brain and body change fastest in the earliest years, time matters.

And yet, despite what has been taken, his life will be mighty. He may not speak with words, but his presence speaks volumes: in the way he laughs, the look he gives when he recognizes someone who loves him, the tiny wins that mean everything. Having a nonverbal child does not silence a family — it gives us a responsibility. I am his voice. I will make sure he is heard.

This is not only a personal promise; it is a mission. Our family’s path has exposed gaps in medical systems: delayed genetic testing, inconsistent access to early developmental services, and a lack of awareness among clinicians about rare conditions like PPP3CA-related disorders. Too many families navigate this maze alone, uncertain of where to turn and how to advocate. That must change.

We need three things urgently: awareness, research, and systemic reform.

Awareness so clinicians, therapists, and policymakers recognize early warning signs instead of dismissing them.
Research so that families living with PPP3CA and similar rare mutations have evidence-based treatments to access, and so future children have better outcomes.
Systemic reform so genetic testing is timely, early intervention services are accessible regardless of zip code, and rare-disease care is coordinated, compassionate, and proactive.

I share my son’s journey because stories build bridges. They prompt doctors to listen more closely. They push funders to prioritize research. They bring families out of isolation and into community. This is not a plea for pity — it is a call to action. It is an insistence that a three-year-old’s life, full of potential and dignity, be met with urgency, respect, and real resources.

 Help us shine a light on PPP3CA and the thousands of other rare genetic conditions that remain misunderstood. Help us build pathways so parents don’t have to beg to be believed, and so every child gets the early support they deserve.

He cannot speak for himself today — but together we can make sure he, and every child whose voice is not heard, shapes the world they live in. I will use my voice for him. I will use it for every child who cannot yet speak. We are not asking for miracles; we are demanding better systems, better research, and better care. Join us. Help us make his life, and every rare life, mighty.