A Devastating Diagnosis
Becoming a mother again should have been a moment of pure joy. But when my daughter, Nora Jane, was born on July 4, 2016, I unknowingly stepped into a role far beyond motherhood—becoming her nurse, therapist, pharmacist, and fiercest advocate.
From the start, something felt wrong. Nora barely cried, struggled to eat, and rarely opened her eyes. Doctors reassured us, sent us home, and told us not to worry. But my instincts knew better. Within days, Nora was slipping away—sleeping endlessly, losing weight rapidly, and failing to respond to touch.
When we rushed her to the hospital, we had no idea our lives were about to change forever.
After agonizing days of tests, a team of doctors sat us down, their faces grim. Nora had Nonketotic Hyperglycinemia (NKH), a rare and terminal metabolic disorder with no cure. They handed us a thin folder, filled with more questions than answers. We were told she likely wouldn’t survive. If she did, she would have no quality of life.
Doctors suggested we take her home and say goodbye.
But how could we? Nora was fighting, so we would fight too.
Managing Nonketotic Hyperglycinemia: An Uncertain Battle
The weeks that followed were a blur of hospital stays, emergency interventions, and heartbreaking realizations. NKH has no standard treatment, and the only options available—sodium benzoate and the ketogenic diet—come with severe risks.
Sodium benzoate, though used to lower glycine, can be toxic, leading to liver damage, metabolic instability, and severe gastrointestinal issues.
The ketogenic diet, sometimes helpful in managing seizures, puts NKH children at risk for kidney stones, acidosis, and nutritional deficiencies.
Every medication, every decision, is a delicate balance—managing symptoms without causing further harm.
A Day in Nora’s Life: Constant Care, Unwavering Love
Today, Nora is seven years old. She cannot sit, stand, walk, or talk. She requires 24-hour care, a team of nurses, and constant monitoring for seizures, aspiration, and feeding tube complications.
Her body is in perpetual motion—her chorea causes her to move constantly, as if conducting an invisible symphony. The simplest things—going to the grocery store, attending family events—are nearly impossible without intense planning. Isolation is a reality, and guilt weighs heavy, especially for my other child, who often has to miss out.
But despite it all, Nora is here. She smiles. She laughs. She reacts with intention. We were told she would never do any of those things. She has taught us about love, patience, and resilience in ways we never imagined.
Fighting for a Cure
Every day, I fight for a better future for her and every child with NKH. We need research. We need better treatments. We need a cure.
I know there are risks in clinical trials, but the biggest risk is doing nothing. Time is ticking. Too many NKH families have already said goodbye.
So, we keep fighting. For Nora. For all NKH children. Because they deserve a chance at life.
-Amanda Almany, Nora's mom and fiercest advocate
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