The Baby Who Lost His Smile to a Rare Disease Is Finally Smiling Again

When Bohdi Higginson was just three months old, his family began watching their happy baby change.

The seizures came again and again. Sometimes, Bohdi experienced as many as 60 seizures in a single day.

For his parents, ordinary moments with their baby quickly became filled with fear. The condition was eventually identified as KCNT1-related catastrophic epilepsy, an ultra-rare genetic disorder that can be devastating and, in some cases, fatal.

A Baby Losing the Things He Once Could Do

The constant seizures did more than frighten Bohdi’s family. They began affecting his development and his ability to smile.

There had previously been no known effective treatment for children with this particular form of epilepsy. In Australia, only 18 cases had ever been recorded.

Doctors knew that simply trying another standard medication might not be enough.

They needed to understand what was happening inside Bohdi’s genes.

Doctors Found the Genetic Cause

Researchers at The Children’s Hospital at Westmead worked with international scientists to identify the genetic change responsible for Bohdi’s seizures.

That discovery opened the door to a different approach: a precision medicine designed to target the underlying genetic problem rather than simply treating the symptoms.

For Bohdi’s family, it offered something they had desperately needed — a reason to believe that the relentless seizures might finally be controlled.

A Treatment Made for His Rare Condition

On April 21, 2026, Bohdi received his first dose of the new treatment.

Three days later, he experienced his final seizure.

The change was remarkable. After months of watching their baby suffer, his parents began seeing something they had almost lost hope of seeing again: Bohdi smiling.

The treatment made Bohdi the first person in the world to receive this precision medicine for his particular genetic form of epilepsy.

His Smile Came Back

By September, the eight-month-old was smiling again.

The little boy who had once been overwhelmed by dozens of seizures each day was now showing his personality in ways his family had been longing to see.

Doctors remain cautious because Bohdi will need continued monitoring, and his long-term outcome is still being studied.

But for his parents, every smile carries enormous meaning.

A New Kind of Hope for Other Families

Bohdi’s treatment was not simply about one baby. His case demonstrates how understanding the genetic cause of a rare disease can potentially lead to treatments specifically designed for individual patients.

Researchers hope the work can contribute to better options for other children living with rare genetic epilepsies.

For Bohdi’s family, however, the science is deeply personal.

They are no longer measuring their days by the number of seizures their baby has endured.

They are watching him smile.

And sometimes, after months of fear, something as simple as a baby’s smile can feel like the most beautiful sign of hope.

Source: Sydney Children’s Hospitals Network; ABC News Australia