Mum shares her heartache at daughter Ember’s battle with terminal KCNT1 epilepsy

A mother opened up about the moment her world was turned upside down when her little girl was diagnosed with a rare and terminal disease.

Jacalyn Kerr, from Ipswich, Queensland, was devastated to find out her daughter Ember, two, had KCNT1 – a disease that affects how the brain works.

Little did the 35-year-old and her partner Joshua know what happened when their little girl had her first seizure when she was just nine months old.

Doctors traced it back to a “brief closed unexplained episode” (a BRUE), but when it happened again two weeks later, Jacalyn suspected something much more sinister was happening.

Ember’s seizures worsened to the point where she could have up to 60 episodes a day before being diagnosed with the deadly form of epilepsy, which affects just 300 people worldwide.

Jacalyn takes care of Ember, who just turned two a few weeks ago, all day every day, and wants to raise awareness of the debilitating condition that can cause her daughter to miss her 10th birthday.

Ember had her first seizure when she was nine months old (left). Her condition worsened and she had 60 seizures a day before she was diagnosed with KCNT1, a rare genetic condition

Ember turned two earlier this month, but due to her terminal neurological condition, she may not live to see her tenth birthday (pictured with her father Joshua and mother Jacalyn).

“I’ve wanted to be a mother since birth and Ember will be my only child. I live and breathe Ember,” Jacalyn told FEMAIL.

‘I am Ember and Ember is me, I lost myself.’

Jacalyn provides 24/7 care for her toddler whose genetic brain disorder causes severe epilepsy.

Many children with KCNT1 do not make it past the first anniversary of their diagnosis, a milestone Ember is just days away from.

Ember was a happy baby before showing signs of the disease for the first time at the age of nine months and having an unexplained seizure.

Jacalyn said that Ember’s body would go rigid and she would hold her breath until she turned purple.

The first seizure was traced back to a one-off seizure, but after the second, Ember underwent a series of tests until she was diagnosed with epilepsy.

Many children with KCNT1 do not make it past the first anniversary of their diagnosis, a milestone Ember is just days away from

Ember had a second seizure two weeks after her third and the doctor diagnosed her with epilepsy, but she did not respond to medication

Ember was put on medication but her body didn’t respond and her seizures increased until she started having them up to 60 times a day.

“You’d interrupt sleep and really shake her six times, as you’d expect,” Jacalyn said.

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

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

“(The doctors) said her seizures will never be controlled and will be a part of our daily lives and cause local catastrophic developmental delays,” the grieving mother recalled.

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

After breaking the news, which no parent wants to hear, doctors Jacalyn and Joshua offered a glimmer of hope by saying there’s a chance Ember won’t suffer the severe developmental delays that usually occur in KCNT1 patients.

After her diagnosis, Ember began to develop again and walked with a rollator, crawled, sat, ate and started talking, but she was still in and out of the hospital

After her diagnosis, Ember began to develop again and walked with a walker, crawled, sat, ate, and began to speak.

She was still in and out of the hospital with myriad complications, but was still evolving when a catastrophic seizure crashed the family’s world.

The severe seizure and a bout of pneumonia took Ember to the hospital for nine weeks of entering and exiting the intensive care unit.

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

“She doesn’t speak anymore, so it took away all the ‘momas’ and ‘daddies,'” Jacalyn said through tears.

Since Ember cannot swallow, she was given a feeding tube to feed her and needs 24/7 monitoring as her airway could collapse, a role Jacalyn’s life has taken on

“She doesn’t walk anymore, she can’t sit unaided so has a supportive chair, there’s no muscle tension and no neck control.”

Since Ember cannot swallow, she was given a feeding tube to feed her and needs 24/7 monitoring as her airway could collapse, a role Jacalyn’s life has taken on.

“I have oxygen tanks 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 bathroom until my partner is done with work.”

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

“Every time I do that, I don’t know if I’m bringing 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.

Parents also have to be careful with illnesses, because even a “cold” could have fatal consequences for Ember.

Jacalyn said that while she is already grieving the loss of her daughter, she has found solace in her and Ember’s online community of 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 cruel disease.

With parents unable to take their toddler out of the house, a Facebook page called Ember, our love for you, grew so big that it reached…was created by its supporters to take it virtually around the world.

A Facebook page was created by family supporters to virtually take Ember around the world. She’s been to Thailand, Mexico and even Disneyland

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

However, her community of support has taken Ember all over the world, from Japan to Disneyland, to swim with dolphins in Thailand and even to 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 that she can “get her angel wings” any day.

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

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

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

“I want people to know how strong and determined Ember is in all of their challenges.”

Jacalyn is lending Embers medical supplies while she grows out of them to families with “otherwise disabled” children who are struggling to get their own through the NDIS.

She is looking for Ember to find a room in the Ronald McDonald House, where the family has spent many nights, and wants to do whatever it takes to help those affected by epilepsy in her daughter’s honor.

Epilepsy Queensland has also been of great support to the family and is working to raise vital donations and awareness for the 280 Australians who are diagnosed with epilepsy each week.