NSW baby first in world to receive breakthrough epilepsy treatment
A baby from the NSW Central Coast has made medical history, becoming the first person in the world to receive a precision medicine treatment for a rare and devastating form of epilepsy.
Bohdi Higginson, an eight-month-old baby from the NSW Central Coast, has made medical history by becoming the first person worldwide to receive a groundbreaking epilepsy treatment tailored to his genetic condition. Diagnosed with KCNT1-related catastrophic epilepsy at three months old, Bohdi experienced 74 seizures on his most severe day. His mother, Stephanie Higginson, described the condition's rapid deterioration, with seizures lasting several minutes and rendering Bohdi unresponsive, stiff, and drooling.
Bohdi's condition had no effective treatment until doctors identified the genetic change driving his epilepsy and discovered a potential treatment overseas. The treatment demonstrated promising results in animal studies but had never been administered to a human patient with epilepsy. Bohdi's family decided to enroll him in the program, becoming the first patient to receive the innovative therapy through the Sydney Children's Hospitals Network's (SCHN) new pathway for fast-tracking promising treatments.
After Bohdi's first dose on April 21, he had not experienced a seizure for three days. Dr. Kavitha Kothur, Bohdi's pediatric neurologist, expressed her excitement and concern, emphasizing the unpredictable nature of the condition and the limited success of conventional medications. SCHN medical lead for advanced therapeutics, Michelle Lorentzos, noted the transformative impact of the treatment, as Bohdi was now babbling, smiling, and controlling his head.
The breakthrough highlights the potential of precision medicine to transform lives, particularly for children with conditions that currently have limited treatment options. Minister for Medical Research David Harris emphasized the significance of the pathway, stating that it enables the health system to cater to individual needs more effectively.
Bohdi's mother expressed her hope that the treatment would become accessible to other children who could benefit from it, emphasizing the power of advocacy for her son's unique needs.
Written by urgent.news from ABC News AU's reporting — not their text. Machine-written — may contain errors; check the original before relying on it.
