Mum shares heartbreak over her daughter Ember’s battle with terminal epilepsy condition KCNT1

A mother tells of the moment her world was turned upside down when her little girl was diagnosed with a rare and terminal illness.

Jacalyn Kerr, from Ipswich, Queensland, was devastated to discover that her daughter Ember, two, was suffering from KCNT1 – a disease that affects brain function.

The 35-year-old and her partner Joshua didn’t know what was happening when their baby girl had her first seizure at just nine months old.

Doctors attributed it to a “short resolved unexplained episode” (a BRUE), but when it happened again two weeks later, Jacalyn suspected something much more sinister was going on.

Ember’s seizures got worse to the point that she could have up to 60 seizures a day before she was diagnosed with the fatal form of epilepsy that affects only 300 people worldwide.

Caring for Ember, who just turned two just weeks ago, all day every day, Jacalyn wants to raise awareness of the debilitating condition that may prevent her daughter from making it to her 10th birthday.

‘I’ve wanted to be a mother since I was born and Ember will be my only child. I live and breathe Cinder,” Jacalyn told FEMAIL.

“I am Ember and Ember is me, I have lost myself.”

Jacalyn cares for her toddler around the clock whose genetic brain disorder causes severe epilepsy.

Many children with KCNT1 don’t make it past the first birthday of their diagnosis, a milestone Ember will reach in just days.

Ember was a happy baby before she first started showing signs of the disease when she was nine months old and had an unexplained seizure.

Jacalyn said that Ember’s body would stiffen and she would hold her breath to the point that she would turn purple.

The first seizure was attributed to a single seizure, but after the second, Ember underwent a battery of tests until she was diagnosed with epilepsy.

Ember was given medication, but her body was unresponsive and her seizures increased until she started having them up to 60 times a day.

“They interrupted sleep and really shook her for six hours, as you’d expect,” Jacalyn said.

“Once the neurosurgeons saw what type of seizures Ember was having, it was deemed unsafe for us to return home without better control of those seizures.”

After further testing, Jacalyn and Joshua received the devastating news that Ember had KCNT1 just after her first birthday.

“(Doctors) said her seizures will never get under control and will become part of our daily lives and cause local catastrophic developmental delays,” the grieving mother recalls.

“We were told she would never learn to walk or talk, she would lose the ability to eat and it was extremely life-limiting.”

After breaking the news that no parent wants to hear, doctors Jacalyn and Joshua offered a glimmer of hope by saying there is a chance Ember does not suffer from the severe developmental delays commonly seen in KCNT1 patients.

After her diagnosis, Ember started to develop again and walked with a walker, crawled, sat up, ate and started talking.

She was still in and out of the hospital with a myriad of complications, but was still developing when a catastrophic attack shattered the family’s world.

The severe attack and a bout of pneumonia landed Ember in the hospital for nine weeks, going in and out of the ICU.

When the family was finally cleared to go home, Jacalyn said Ember was “like a newborn in a toddler’s body.”

“She doesn’t talk anymore, so it’s taken away all the ‘mommies’ and ‘dads,'” Jacalyn said, tears in her eyes.

“She can’t walk anymore, she can’t sit unassisted, so she has a supportive chair, no muscle tone, and no neck control.”

Unable to swallow, Ember was given a stomach tube to feed her and she needs to be monitored 24/7 as her airways can collapse, a role that has taken over Jacalyn’s life.

“I have oxygen bottles in every room of our house. My house looks like a hospital, we have medical supplies everywhere,” Jacalyn said.

“I don’t eat, I don’t drink, I don’t go to the toilet until my partner has finished work.”

Jacalyn, a former nurse, now suffers from PTSD and can no longer set foot in a hospital without being triggered.

“Every time I do that, I don’t know if I’m taking my kid home,” she said.

Joshua works full-time to support his family, an ongoing struggle as the cost of living continues to rise, Jacalyn said.

The parents should also be wary of illnesses, as even a “sniff” can have serious consequences for Ember.

Jacalyn said that while she is already grieving the loss of her daughter, she has found comfort in her and Ember’s online community with thousands of followers.

She has shared details about Ember’s life and condition, from tasting toothpaste to unpacking medical supplies, to raise awareness of the vicious disease.

Because the parents can’t leave their toddler out of the house, a Facebook page called Ember our love for you is so great that it has reached… was created by their supporters to take her around the world virtually.

“She hasn’t even been to the beach. We can’t go to the park and push her on a swing like you would any two-year-old,” Jacalyn said.

However, her community of supporters has taken Ember around the world, from Japan to Disneyland to swimming with the dolphins in Thailand and even Joshua’s hometown of Bellingen (NSW).

Jacalyn does her best to help Ember live her best quality of life and create meaningful interactions, despite knowing she can “get her angel wings” any day.

The mother wants to “shine a light” on the terrible disease that will eventually take away her child.

“I just want people to know my little girl was here,” Jacalyn said.

“I want people to know how strong and determined Ember is despite all her challenges.”

Jacalyn lends Ember’s medical devices to families with “otherwise disabled” children who struggle to get their own devices through the NDIS.

She is looking for a room in the Ronald McDonald House, where the family spent many nights, after Ember and wants to do everything she can to help those affected by epilepsy in honor of her daughter.

Epilepsy Queensland has also been a great support to the family and works each week to raise vital funds and awareness for the 280 Australians diagnosed with epilepsy.