BiographyEmber was born March 2021 after a long battle with infertility.
Everything was perfect until her first seizure just before Christmas 2021 at just 9 months old.
She was misdiagnosed with Rett syndrome initially by her paediatrician who was there when she was born so we trusted her but thankfully we were referred to the children’s hospital where that diagnosis was proven to be wrong and she was given the diagnosis of generalised epilepsy and was commenced on her first anti epileptic.
In 2 months Ember was on the max dose of said medication and was still having 50-70 seizures a day.
These seizures were scary, she would stiffen breathe hold and turn blue
Her neurologist requested Ember be admitted for a sleep EEG which was only meant to be an overnight admission. The morning after the EEG her neurologist came in our room and pulled over a chair…. That’s when I knew we weren’t going home.
He explained that Embers seizures are far too dangerous for us to return home without trying to get them more managed with medications however he suggested we do an MRI to see if there was any structural issues causing the seizures and to also send of Embers genetic panel to see if that was causing them.
We stayed for 2 long weeks where they tried numerous medications and on discharge we were down to 20-30 seizures a day.
Fast forward a month which was just after Embers 1st birthday we were in hospital due to Embers seizures being unmanageable due to illness, again her neurologist walked in and pulled up a chair but this time he had a piece of paper with him.
KCNT1 epilepsy was the diagnosis, a rare catostrophic life limiting form of epilepsy.
I immediately googled the condition where I read that Ember would never learn to walk, talk, eat orally or live past the age of 10.
Ember achieved all of those things while still enduring 20-30 seizures a day, her first word was Mum and she was walking with assistance.
Her neurologist was blown away by her progression so we all thought she was defying the odds, pathing her own path… at 18months old after seizing on and off for 32 hours she lost all her abilities.
At 3 years old she functions at a newborn state, she has a feeding button in her stomach, she requires relentless suctioning as she can’t manage her secretions, she is unable to sit without support as she has no muscle tone and requires 24/7 care. She often requires oxygen while sleeping.
Her seizures are a daily occurrence on top of managing her chest as she is susceptible to chest infections often requiring ICU admissions.
|
