A mum has opened up about the moment her world was flipped 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, suffered from KCNT1 – a disease that affects the functioning of the brain.
The 35-year-old and her partner Joshua didn’t know what was happening when their baby girl suffered her first seizure at just nine months old.
Doctors put it down to a ‘brief resolved unexplained episode’ (a BRUE) but when it happened again two weeks later, Jacalyn suspected something far more sinister was happening.
Ember’s seizures got worse to the point she could have up to 60 episodes a day before she was diagnosed with the fatal form of epilepsy that only affects 300 people globally.
Jacalyn is caring for Ember, who turned two just a few weeks ago, all day every day and wants to raise awareness about the debilitating condition that may see her daughter not 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 because of her incurable neurological condition she may not live to see her tenth birthday (pictured with her dad Joshua and mum Jacalyn)
‘I’ve wanted to be a mum since I was born and Ember will be my one and only child. I live and breathe Ember,’ Jacalyn told FEMAIL.
‘I am Ember and Ember is me, I’ve lost myself.’
Jacalyn is caring round the clock for her toddler whose genetic brain condition that causes severe epilepsy.
Many children with KCNT1 don’t it make past the first anniversary of their diagnosis, a milestone Ember is days away from hitting.
Ember was a happy baby before she first started displaying signs of the disease when she was nine months old and had an unexplained seizure.
Jacalyn said Ember’s body would go stiff and she would hold her breath to the point she would turn purple.
The first seizure was put down to a one-off but after the second, Ember was put through a series of tests until she was diagnosed with epilepsy.
Many children with KCNT1 don’t it make past the first anniversary of their diagnosis, a milestone Ember is days away from hitting
Ember experienced a second seizure two weeks after her third and doctor’s diagnosed her with epilepsy but she wasn’t responding to medication
Ember was put on medication but her body wasn’t responding and her seizures increased until she started having them up to 60 times a day.
‘They would interrupt sleep and really shake her for six as you would 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 over those seizures.’
After further testing, Jacalyn and Joshua were given the devastating news Ember had KCNT1 just after her first birthday.
‘(Doctors) said her seizures will never be controlled and will be a part of our everyday life and cause local catastrophic developmental delays,’ the grieving mum recalled.
‘We were told she would never learn to walk, talk, she’d lose the ability of eating and it was extremely life limiting.’
After delivering the news no parent wants to hear, doctors offered Jacalyn and Joshua a glimmer of hope saying there’s a chance Ember may not suffer the severe developmental delays that are usually seen with KCNT1 patients.
Following her diagnosis Ember did start to develop again and was walking with a walker, crawling, sitting up, eating and starting to talk but she was still in and out of hospital
Following her diagnosis Ember did start to develop again and was walking with a walker, crawling, sitting up, eating and starting to talk.
She was still in and out of hospital with a myriad of complications but was still developing then a catastrophic seizure saw the family’s world come crashing down.
The severe seizure and a bout of pneumonia landed Ember in hospital for nine weeks going in and out of the ICU.
When the family were finally given the all clear to go home Jacalyn said Ember was ‘like a newborn in a toddler’s body’.
‘She no longer talks so it took away all the ‘mamas’ and ‘dadas’,’ Jacalyn said through tears.
As Ember can’t swallow she was given a gastric tube to feed her and she needs 24/7 monitoring as her airways could collapse, a role that has taken over Jacalyn’s life
‘She no longer walks, she can’t sit unaided so has a supportive chair, there’s no muscle tones and no neck control.’
As Ember can’t swallow she was given a gastric tube to feed her and she needs 24/7 monitoring as her airways could 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 bathroom until my partner finishes 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, I don’t know if I’m bringing my child 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 also have to be cautious about illnesses as even so much as a ‘sniffle’ could have dire consequences for Ember.
Jacalyn said while she is already grieving losing her daughter she has found solace in her and Ember’s online community of thousands of followers.
She has been sharing details of Ember’s life and condition, from toothpaste tastings to unboxing medical supplies, to spread awareness of the cruel disease.
As the parents can’t take their toddler out of the house, a Facebook page called Ember our love for you is so big it has reached… was created by their supporters to virtually take her around the world.
A Facebook page was created by the family’s supporters to virtually take Ember around the world. She has been to Thailand, Mexico and even Disneyland
‘She hasn’t even been to the beach, we cant go to the park and push her on a swing like you would any two-year-old,’ Jacalyn said.
However, her community of supporters have taken Ember all over the globe from Japan to Disneyland to swimming with the dolphins in Thailand and even Joshua’s hometown of Bellingen (NSW).
Jacalyn is doing her best to help Ember live her best quality of life and create meaningful interactions despite knowing she could ‘gain her angel wings’ any day.
The mum wants to ‘shine a light’ on the awful disease that will eventually take her child from her.
Jacalyn is doing her best to help Ember live her best quality of life and create meaningful interactions despite knowing she could ‘gain her angel wings’ any day
‘I just need people to know that my little girl was here,’ Jacalyn said.
‘I want people to know how strong and determined Ember is through all of her challenges.’
Jacalyn is lending out Ember’s medical aids as she grows out of them to families with ‘differently abled’ children who are struggling to get their own through the NDIS.
She is looking to get 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 effected by epilepsy in her daughter’s honour.
Epilepsy Queensland has also been a big support for the family and works to raise vital funds and awareness for the 280 Australians diagnosed with epilepsy every week.
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