The Rare Reality.

We want to share an important newborn screening research development happening in the United States.

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.

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.

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.

List of known NKH Research Publications