With Saturday being Rare Disease Day, I need you to know my son’s name.
His name is Ezra.
He was born on Jan. 24, 2023. And for a while, he was just a baby, my baby. Smiling. Learning to sit. Learning how to walk. Looking at me like I was his whole world.
And then, slowly, things started slipping away.
Ezra has GM1 gangliosidosis, a rare and terminal genetic disorder. Most people have never heard of it. I hadn’t, either — until it became the word that split my life into before and after.
GM1 is a lysosomal storage disease. It steals children piece by piece. It robs them of milestones they’ve already worked so hard to gain. It is progressive. It is cruel. And right now, there is no cure.
Ezra could sit independently in early 2025. By August, he had completely lost that ability. His head control is fading. In his car seat, his head slumps forward. When I hold him, it rests against his chest. He began having seizures in June.
Every time he loses something, I feel like I lose something too.
He is 3 years old.
He has a gastrostomy tube. He wears a pulse oximeter at night so I can make sure he’s still breathing. I have woken up in the middle of the night to him vomiting silently in his crib, and I’ve had the terrifying realization that if no one had heard him, we might not have known. That is the level of fear rare-disease parents live with. Quiet, constant, in-the-background fear.
But here is what you won’t see in a medical journal:
You won’t see the way he still looks at me.
You won’t see the way his siblings love him.
You won’t see the way our entire family has had to redefine strength.
Rare Disease Day matters because families like mine are often invisible. Rare diseases affect 1 in 10 Americans, but individually they are overlooked, underfunded and misunderstood. When your child has something rare, you become their researcher, their advocate, their nurse, their therapist and their voice.
You learn medical terminology overnight.
You memorize oxygen saturation levels.
You know what seizure activity looks like.
You calculate time differently.
You also learn what really matters.
We don’t measure progress in milestones anymore. We measure it in comfort. In stable days. In moments of connection. In smiles.
I am sharing our story because awareness is the first step toward funding. Funding is the first step toward research. And research is the first step toward hope.
Families facing GM1 don’t want sympathy; we need urgency. We need clinical trials. We need investment in gene therapy. We need people to care even when it’s uncomfortable.
On Rare Disease Day, I am asking our community to say his name.
To learn about GM1.
To support rare disease research.
To hold space for families walking this road.
Ezra is not just a diagnosis. He is not a statistic. He is not “rare.”
He is my son.
And his life matters.
