RANTOUL, IL (Chambana Today) — On Rare Disease Day, Ashley Thornton wants her community to know one name: Ezra.
Ezra Thornton is 3 years old. He was born Jan. 24, 2023, and for the first year of his life, his mother says, he was meeting milestones — smiling, learning to sit, beginning to walk. Then, gradually, those milestones began to slip away.
Ezra has GM1 gangliosidosis, a rare and terminal genetic disorder classified as a lysosomal storage disease. The progressive condition affects the nervous system and currently has no cure.
Thornton said Ezra was able to sit independently in early 2025. By August, he had lost that ability. His head control has weakened, and he began experiencing seizures in June. He now relies on a feeding tube and wears a pulse oximeter at night so his family can monitor his breathing.
“Every time he loses something, I feel like I lose something too,” Thornton said.
She describes a constant, quiet fear that many rare disease parents live with — monitoring oxygen levels, recognizing seizure activity and responding to medical emergencies at home.
Rare diseases collectively affect an estimated 1 in 10 Americans, yet individual conditions like GM1 often receive limited funding and public attention. Thornton says families frequently become researchers, caregivers and advocates for their children overnight.
Instead of measuring milestones, she now measures comfort, stable days and moments of connection.
Thornton is sharing Ezra’s story to raise awareness and call for increased funding, research and development of treatments, including potential gene therapies.
“Ezra is not just a diagnosis,” she said. “He is my son. And his life matters.”