As a GP Jennie Nowers is used to providing answers to people in some of their most vulnerable moments, but there was nothing she could do the day her newborn son Lucas began having seizures.

"I couldn't help him," she told "There's nothing worse than watching this tiny baby have seizure after seizure and you can't do anything for them."

A glimpse into the lives of Kiwis living with a rare condition on Rare Disease Day
Rare disease hits: Mum out of coma
New Zealand Organisation for Rare Diseases facing closure without enough funding

The Brisbane-based doctor faced every parent's worst nightmare when her one-day-old son suddenly began seizing in her arms, leading to a devastating diagnosis eight days later.


Now Jennie is sharing her family's story for Rare Disease Day as part of her bid to let other families facing the same situation that they are not alone.


Jennie gave birth to Lucas via C-section 14 months ago and at first everything seemed normal.

"It was an uncomplicated pregnancy, we had all our screening tests and there was nothing that was picked up that was abnormal," she said.

But after mother and son were admitted into the post-natal ward Jennie noticed Lucas would "cry out" for seemingly no reason.

Despite a normal birth Lucas began having seizures when he was a day old.
Despite a normal birth Lucas began having seizures when he was a day old.

"I would go to see if he wanted to be fed and noticed by the time I was over there that he would be breathing quite fast, but his eyes would be closed," she said.

Then things took a terrifying turn while Lucas was lying on her chest for some skin to skin contact.

"He then had a full seizure on my chest, his eyes all of a sudden went to the side," Jennie recalled.

"His whole body twisted to the one side, and he went stiff as a board on my chest and let out this horrible high-pitched cry and then started breathing really heavy after that."


The quick-thinking mum recorded as much as the seizure as she could on her phone while ringing midwives for help.

From there Lucas was rushed into paediatric ICU alongside a "hysterical" Jennie, where the newborn had another five seizures in the space of an hour.

Desperate to uncover what was wrong, Lucas underwent a undergo an MRI, multiple lumbar punctures and other tests.

But doctors couldn't figure out what was causing the seizures and Lucas's blood was sent to Melbourne for genetic sequencing.

"(The doctors said) it could be something quite benign to something quite catastrophic, but they just didn't know at that point," Jennie said.

When Lucas was nine days old the testing in Melbourne yielded an answer; KCNQ2 encephalopathy.


The genetic epilepsy affects the potassium channels in the brain which causes seizures and impaired motor and intellectual development.


For Jennie and the Nowers family getting a diagnosis was a "mix of emotions".

"It felt like the bottom had fallen out of my world because there was nothing I could do, the diagnosis was what it was," she said.

"On the one side it was a relief to have an answer so that we knew what it was, because we did have an answer we had some idea of what we could expect to happen.

"But at the same time it was a massive blow, an emotional blow."

Lucas is an incredibly happy baby who is adored by his older brothers Callum and Ashton.
Lucas is an incredibly happy baby who is adored by his older brothers Callum and Ashton.

In the months since his diagnosis Jennie and her husband have worked tirelessly to give Lucas the best future possible by getting him on medication as well as other therapies such as physio and hydrotherapy.


"His biggest struggles are his motor developments – he still can't roll over reliably or sit unsupported," Jennie said.

"I suppose I'd love for him to be able to crawl and walk and be able be independent with his mobility. I don't know if that will or when that will happen, I'm hoping that it will."

But despite his diagnosis Lucas is a happy baby who is adored by his two older brothers Callum, 8, and Ashton, 5.

"My biggest wish is for him to be happy and to not be frustrated by his limitations," Jennie said.

"He's the most happy child you'll ever meet, he makes everybody in the world smile, you can't help but smile at him. Even though he's been through so much he doesn't show it, he's just happy with life."

Jennie decided to share her story for Rare Disease Day to help other families in similar situations realise they aren't alone.


"Being the parent of a special-needs child with a rare diagnosis it's so physically and emotionally exhausting. It's isolating, it's overwhelming and it feels like you'll never be able to keep all the plates spinning in the air," Jennie said.

"I guess one of the things that really helped me was realising that I wasn't alone, realising that diagnosis helped me find my tribe. And that the advent of social media has opened up a wave of support from other mothers and amazing families that are facing the same kind of diagnosis and want to support one another."