When little baby Levi had his first seizure on his very first night home from the hospital, parents Steve and Karsha Trowbridge weren’t quite sure what had happened.
When he had his second while a midwife was visiting the family at their Wollert home the next day, she arranged for him to be rushed straight to hospital.
Mr Trowbridge said the experience was one of the scariest of his life.
“The first seizure was the first night that we got out of the hospital, our first night as a family at home,” he said.
“It was completely out of the blue, it was just so scary just watching him.”
Levi was transferred from the Northern Hospital straight to the Royal Children’s Hospital, where just over three weeks later he was diagnosed with KCNQ2 Developmental and Epileptic Encephalopathy.
“In the first three and a half weeks of his life he had roughly around 20 seizures,” Mr Trowbridge said.
“The doctors couldn’t tell us anything about what was causing it at this stage, he was having all these blood tests and needles and all these other tests, but we were lucky enough to get a diagnosis in the first month of his life.”
There is no known cure KCNQ2 and its rarity means little is still known about its long-term impact, however medication is available to limit the seizures.
Mr Trowbridge said Levi is now almost 20 months old and still taking medication twice a day.
“The plan is that once he grows in height and weight they will hopefully try and ween him off him the medication and see how he goes – in some cases the seizures come back come back and in some they don’t.”
Adding to the anxiety is the lack of information available about such a rare condition, affecting less than three out of every 100,000 live births.
The family has joined a Facebook support group with other affected families with similar experiences.
“My wife and I have struggled a bit, it’s not just the seizures it’s also development delays, physically and mentally,” Mr Trowbridge said.
“He’s about 10 months behind, he is not crawling or walking yet, and we know his brain is not going to be the same, especially with all the seizures he had.”
Mr Trowbridge plans on running the Melbourne half marathon next month to raise awareness and money for research into Levi’s rare genetic condition.
“All the money will be linked straight in to the KCNQ2 cure foundation for research and development so that hopefully one day a cure can be found,” he said.
“Levi’s my inspiration but doing it for all of the kids – 21 kilometres is going to be pretty hard for me, but not as hard as they have it.”
Details and donations: gofundme.com/f/helping-levi-find-a-cure-for-kcnq2