After being flown to John Hunter Children’s Hospital (JHCH) and undergoing an electroencephalogram (EEG) that came back normal, doctors initially believed she was suffering from febrile convulsions.

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“[They were] thinking it was a one-time event,” said Josie’s mum, Kristie Neilson.

“She was prescribed anti-convulsion medication for six weeks, and we hoped for the best.”

The day after stopping the medication however, Josie had another episode.

“We found ourselves back in resus at Port Macquarie Base Hospital (PMBH),” Kristie said.

For a period, Josie’s seizures would occur every Friday afternoon, which resulted in numerous ambulance rides and costly bills.

Just two months after Josie’s seizures started, she had her first flight on the Westpac helicopter, where she was intubated due to the severity of her seizures.

Despite another normal EEG, doctors still attributed it to febrile convulsions.

“We knew deep down though, that Josie was dealing with epilepsy,” Kristie said.

“After all, she had two uncles who also had childhood epilepsy.”

In response to the severity of Josie’s condition, the medical team began giving her medication to stop the seizures as quickly as possible, to prevent further episodes.

After two years of multiple seizures, intubations, and countless helicopter flights to John Hunter, the family insisted on a repeat EEG.

This time, it confirmed their suspicions: Josie’s epilepsy was located in the posterior temporal lobe on the right-hand side.

In 2020, genetic testing revealed that Josie had the SCN1A gene mutation, a variant of Dravet Syndrome, a rare and lifelong form of epilepsy.

“Receiving this diagnosis was a difficult pill to swallow,” Kristie said.

“It meant Josie would never outgrow epilepsy.”

Despite the severity of the diagnosis, the family remains grateful, particularly to the community and to a number of the services that have contributed to Josie’s care.

“Our family was blessed in 2023 when someone anonymously nominated Josie for a wish through Hastings Little Wishes and we spent a fabulous week on the Gold Coast.

“To anonymous and Hastings Little Wishes, we are forever grateful to you and your kindness, we will never forget what you did for us.

“We are also incredibly fortunate to have the best medical team by Josie’s side, including her paediatrician at PMBH and her neurologist at JHCH.

“These doctors have been an absolute godsend, and we feel so blessed to have them supporting us.

“They have cared for Josie countless times, and their work is invaluable.”

Josie’s siblings have also stepped up the plate to ensure their sister’s safety.

“Ethan, Lockie and Ella have been wonderful, stepping in to alert us to her seizures and, in some cases, saving her life,” Kristie said.

“Our gratitude for them is immeasurable.”

Now nearly nine-years-old, Josie has faced numerous challenges due to her seizures, which have affected her ability to learn and function in other areas.

She never gives up however, and can list learning to ride a bike on two wheels as one of her greatest milestones.

“Josie’s journey has been long and difficult, but with the love and support of her family, friends, school and medical team, she continues to fight every day,” Kristie said.

“Josie’s strength reminds us that no matter the challenges we face, there is always hope.”