A mom opened up about the moment her world was turned upside down when her young daughter was diagnosed with a rare and terminal disease.
Jacqueline Kerr, from Ipswich, Queensland, was devastated when she discovered her daughter, Ember, 2, had KCNT1 – a disease that affects the functioning of the brain.
Little did the 35-year-old and her partner, Joshua, know what was going on when their baby girl suffered her first seizure at just nine months old.
Doctors attributed it to a “brief unexplained episode” (BRUE) but when it happened again two weeks later, Jacqueline suspected something more serious was going on.
Ember’s seizures became so severe that she could have up to 60 seizures a day before she was diagnosed as a fatal form of epilepsy affecting just 300 people globally.
Jacqueline Ember, who just turned two just a few weeks ago, nurses all day every day and wants to raise awareness about the debilitating condition that may cause her daughter not to live to see her 10th birthday.
Ember had her first seizure at nine months old (left). Her condition worsened and she was having 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 nervous condition, she may not live to see her 10th birthday (pictured with dad Joshua and mom Jacqueline)
“I have wanted to be a mother since I was born and Ember will be my only child.” I live and breathe Ember, Jacqueline told FEMAIL.
“I am Ember and Ember I am, I lost myself.”
Jacqueline cares around the clock for her young boy, whose genetic brain condition causes severe epilepsy.
Many children with KCNT1 do not make it past the first anniversary of their diagnosis, a milestone days away from Ember’s infection.
Ember was a happy baby before she first showed signs of illness when she was nine months old and had an unexplained seizure.
Jacqueline said Ember’s body would swell and she would hold her breath so much that she would turn purple.
The first seizure was subdued once 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 days away from Ember’s infection.
Ember had a second seizure two weeks after the third and was diagnosed with epilepsy, but she did not respond to medication
Ember was put on the medication but her body didn’t respond and her seizures increased until she started taking it up to 60 times a day.
“They were cutting sleep and really rocking it for six like you would expect,” said Jacqueline.
“Once the neurosurgeons saw the type of seizures Ember was having, it was deemed unsafe for us to go home without better control of those seizures.”
After further testing, Jacqueline and Joshua are given the devastating news that Ember has KCNT1 after her first birthday.
“The doctors said her seizures would never be controlled and would be part of our daily lives and cause catastrophic local developmental delays,” recalls the grieving mother.
“We were told she would never learn to walk and talk, she would lose her ability to eat and that was very disruptive to her life.”
After delivering news that neither parent wants to hear, the doctors offer Jacqueline and Joshua a glimmer of hope saying there is a chance that Ember will not suffer from the severe developmental delay that usually occurs with KCNT1 patients.
After her diagnosis, Ember began to develop again and was walking on a treadmill, crawling, sitting, eating and beginning to speak but she was still in and out of the hospital.
After her diagnosis, Ember began to develop again and was walking on a treadmill, crawling, sitting, eating, and beginning to speak.
She was still in and out of the hospital with countless complications but was still developing, and then a catastrophic seizure that brought the family world apart.
A severe attack and bout of pneumonia landed Ember in the hospital for nine weeks as he was in and out of the intensive care unit.
When the family was finally given all the clarity to go home, Jacqueline said Ember was “like a newborn in a toddler’s body.”
“She doesn’t talk anymore, so the ‘mamas’ and ‘dadas’ are all taken,” Jacqueline said, tearfully.
Since Ember cannot swallow, she was given a gastric tube to feed her and needed 24/7 monitoring as her airways could collapse, a turn that took Jacqueline’s life.
“She no longer walks, and she can’t sit unaided, so she has a supportive chair, no muscle tones and no neck control.”
Because Ember cannot swallow, she was given a gastric tube to feed her and needed 24/7 monitoring as her airways could collapse, a turn that took Jacalyn’s life.
I have oxygen bottles in every room of our house. My house is like a hospital, Jacqueline said, and we have medical supplies everywhere.
“I don’t eat, I don’t drink, and I don’t go to the bathroom until my partner has finished work.”
Jacqueline, a former nurse, now suffers from PTSD and can no longer set foot in the hospital without being operated on.
“Every time I do that, I don’t know if I’m going to bring my baby home,” she said.
Jacqueline said Joshua works full time to support his family, which is an ongoing struggle as the cost of living continues to rise.
Parents should also be careful about illnesses, even if ‘sniffing’ could have serious consequences for Ember.
Jacqueline said that while she’s already grieving the loss of her daughter, she found solace in her community and the online Ember community that has thousands of followers.
She has been sharing details of Ember’s life and condition, from toothpaste tasting to unpackaged medical supplies, to spread awareness of the cruel disease.
Since parents can’t get their child out of the house, a Facebook page called Ember Our love for you is so great that it has reached … It was created by their supporters to move it virtually around the world.
The Facebook page was created by supporters of the family to move Ember virtually around the world. I’ve 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 she’s any two-year-old,” said Jacqueline.
However, her community of supporters has taken Ember all over the world from Japan to Disneyland to Swim with Dolphins in Thailand and even Joshua’s hometown of Belingen (New South Wales).
Jacalyn does her best to help Ember live her best quality of life and create meaningful interactions even though she knows she could ‘earn her angel wings’ any day.
The mother wants to “shed light” on the terrible disease that will eventually take her child away from her.
Jacalyn does her best to help Ember live her best quality of life and create meaningful interactions even though she knows she could ‘gain her angel wings’ any day
“I just want people to know my little girl was here,” said Jacqueline.
“I want people to know how strong and resilient Ember is through all the challenges she faces.”
Jacalyn has been loaning Ember medical aid as she grows out of it to families with “differently abled” children who struggle to get their aid through the NDIS.
She looks forward to getting a room at the Ronald McDonald House, where the family has spent several nights, after Ember and wants to do everything she can to help epileptics in her daughter’s honor.
Epilepsy Queensland He has also been a huge support to the family and works to raise vital funds and awareness for the 280 Australians diagnosed with epilepsy each week.
