New Rare Disease Pathway Transforms Infant's Life

Bohdi, an eight-month-old baby from the Central Coast, can now smile. For months, he had been unable to do so, trapped by up to 60 seizures a day that required around-the-clock care. Within days of receiving a new precision medication, the seizures stopped entirely, allowing him to return home.

The recovery was made possible by the Innovative Therapies Pathway, a new medical framework established by the Nsw Government at the Sydney Children's Hospitals Network (SCHN). Bohdi is the first person globally to benefit from this specific treatment for KCNT1-related catastrophic epilepsy, an ultra-rare genetic disorder that is often fatal in infants and previously had no known effective treatment.

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The condition is exceptionally rare in Australia, with only 18 cases ever recorded. Because KCNT1-related epilepsy targets the brain's electrical currents, precision medicine was used to target the specific genetic cause of Bohdi's condition, stopping the overactive brain currents that trigger seizures. The medication used had previously only been trialled in healthy adults.

Traditional medical approvals typically move through a sequential process — evaluating safety, then efficacy, followed by ethics, governance, and operational readiness. For children with life-limiting conditions and urgent clinical needs, this sequence can be too slow. The Innovative Therapies Pathway, created by Dr Michelle Lorentzos, Medical Lead for Advanced Therapeutics at SCHN, collapses these requirements into a single stage.

By enabling experts to evaluate novel therapies, assess evidence, and address governance simultaneously, the pathway fast-tracked the approval and delivery of Bohdi's medication within six weeks. This collaboration involved Dr Kavitha Kothur, a paediatric neurologist at The Children's Hospital at Westmead, and the Epilepsy Research Centre.

The implications of this administrative shift extend beyond a single patient. According to Minister for Medical Research David Harris, more than 500,000 Australian children live with a rare disease. Harris stated that the pathway has the potential to become a global model for paediatric rare disease care, translating medical discoveries into patient care more rapidly.

The human impact of the intervention is described by Bohdi's mother, Stephanie Higginson, who said:

"I will never be able to thank Dr Kothur enough for what she has done for my family. She never gave up looking for answers, and she gave us hope when we needed it most. Her work changed our lives. Bohdi's now like a completely different baby."

Stephanie Higginson, mother of Bohdi, via InsideStateGovernment

Dr Lorentzos noted that this represents a shift toward a new era where highly personalised therapies for ultra-rare diseases are increasingly possible, moving beyond a single medication to a new method of delivering innovative treatments to children.

Despite the immediate success, clinicians are maintaining a cautious outlook regarding the long-term prognosis. Dr Kothur noted that while the clinical outcome — including the complete cessation of seizures and improvements in development, has been excellent so far, it is still early in the treatment journey.

Accelerating Access to Genomic Medicine

While traditional approvals follow a sequential path, moving from safety to efficacy, then through ethics, governance, and operational readiness, the Innovative Therapies Pathway merges these requirements into a single stage. This consolidation allowed medical experts to deliver Bohdi's precision medication within six weeks.

This precision medicine targets the genetic cause of KCNT1-related catastrophic epilepsy to stop the overactive brain currents that trigger seizures. According to the NSW Government, the medication had been trialled only in healthy adults before Bohdi's case.

The collaboration required to achieve this result involved a multidisciplinary care team, including the Epilepsy Research Centre and Dr Kavitha Kothur, a paediatric neurologist at The Children's Hospital at Westmead. Miragenews reports that the results were evident within days of starting the medication, ending Bohdi's need for around-the-clock care and enabling his return home.

The scale of the need for such pathways is significant. Minister for Medical Research David Harris stated that more than 500,000 Australian children are living with a rare disease. He suggested that this model of translating medical discoveries rapidly into patient care could serve as a global standard for paediatric care.

Despite the immediate success, the medical team remains cautious. Dr Kothur noted that while the response has been extraordinary and has led to improvements in Bohdi's development, the patient is still early in the treatment journey.