River's Story

“The diagnosis did not change who River is — it gave us the map to support him better.”

River was born at 5 pounds 13 ounces via cesarean section after presenting breech. He spent nine days in the hospital before coming home, and at three months old required surgery for a genial hernia.

The early signs of profound low muscle tone were concerning, but it was a major seizure — lasting approximately two hours in the PICU — that accelerated the search for a genetic answer. Whole exome sequencing ultimately confirmed ZTTK syndrome.

For River's family, the diagnosis was not an ending but a beginning. It connected them to a community of families who understood, and gave their medical team a clearer picture of how to support River's development going forward.