The Rare Reality.

The NKH community has been invited to take part in an important international initiative focused on amplifying the voices of patients and caregivers living with rare brain signaling-related disorders — including NKH.

What does Rare Disease Day mean to you? It has so much meaning to me. It hits personal. Some years on this day, I am filled with hope. Some years on this day, I am tired. Tired of fighting for what our children need, but then I think of all the rare disease warriors who fight to live and breathe, and I remember my why!!

Rare Disease Day is not about pity It is about visibility. It is about equity. It is about demanding systems that serve all children — not just the statistically convenient ones.

At just 5 days old, Tucker was rushed to the hospital because he had all but quit breathing on us. Once he got to the ER, he was immediately intubated. That night he was life-flighted down to the children’s hospital in Baton Rouge, where we would spend just over the next month.

Luka’s inspiring journey with NKH, respiratory failure, and a tracheostomy — and the resilience that continues to define his life.

Our life with NKH has been crazy, to say the least. But it has also been incredibly rewarding. At just 4 days old, Braylynn stopped breathing in my arms. Without thinking, I got in the car and rushed to the nearest ER, where she was immediately intubated. All of the nurses and doctors in the ER rushed to her room, some working, some hovering, some running around to get what they needed.

Amelia was never just a diagnosis. She is a little girl with a big heart, fighting quietly and bravely every single day. Amelia was born with a rare disease called Nonketotic Hyperglycinemia (NKH) — a condition that affects the brain and turns the simplest things we take for granted, like swallowing, sitting, or controlling her body, into daily challenges.

My son Thaddeus was born February 10th 2024. What should have been the happiest moment of life, became a nightmare. Newborn Thaddeus in the NICU After 12 days of watching my child never cry, never open his eyes and need ventilator support we had our diagnosis, Non Ketotic Hyperglycinema. From that moment life changed, but I'm here to share our story and offer hope.

How Much Are You Willing to Fight? It’s easy to stand on the sidelines. It’s easy to watch others carry the weight. It’s easy to complain that nothing is changing while waiting for someone else to make it happen. But change does not come from waiting. Change comes from movement.

When your child is diagnosed with NKH or any long term illness or cancer, your nervous system doesn’t get a choice. You’re thrown into survival mode.

The difficult and often misdirected path to diagnosis The daily realities of managing severe symptoms like intractable seizures, low muscle tone, developmental delays, and feeding challenges The emotional and physical toll NKH takes on the entire family The urgent need for safer, more effective treatments and the willingness of our community to participate in clinical trials