The Rare Reality.

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

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.

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.

List of known NKH Research Publications