February Warrior
Ember
At just nine months old, Ember experienced her first seizure, a moment that profoundly altered the lives of her family.
This terrifying incident, occurring just before Christmas, marked the beginning of a challenging journey with epilepsy.
A month later, Ember was diagnosed with epilepsy and began her first anti-epileptic medication. It was three months later when genetic testing revealed a more specific and serious condition: KCNT1 epilepsy.
KCNT1 epilepsy is a rare and severe form of epilepsy, characterized by early-onset seizures and often associated with developmental delays and other neurological issues. This genetic disorder is known for its resistance to traditional seizure medications, making management and treatment particularly challenging.
For Ember's family, the diagnosis came with overwhelming information and terms like "global developmental delays," "regressions," "feeding issues," and even "terminal."
These words on a fact sheet, along with contact details to a supporting foundation, left them dumbfounded. As they watched Ember, then a lively child playing and chatting, they struggled to reconcile this image with the diagnosis.
Tragically, at just over a year old, Ember experienced significant regression, losing her ability to smile, chat, walk, eat, sit, and cuddle. It was as if she had returned to a newborn state. Her condition made even common illnesses severe, often requiring intensive care for uncontrolled seizures.
Ember has since undergone three surgeries, including the placement of a feeding button (gastrostomy) and a port, as well as surgery to help manage saliva secretion. Despite these challenges, Ember's resilience and determination shine through.
Her life now includes constant care, with support workers assisting in everything from feeding to engaging in sensory and light play, as well as physiotherapy, speech, and occupational therapy exercises.
Ember, with her love for having her hair and nails done, continues to express her personality, even giving a sassy side-eye when things aren't quite to her liking. She has become a source of inspiration, teaching her family to cherish the small moments, like a handhold, a brief moment of eye contact, or a precious smile.
The journey with KCNT1 epilepsy has transformed Ember's family, teaching them the importance of appreciating every moment and advocating fiercely for their child's medical care. They remind others in similar situations that doing your best is enough and to always speak up for your child, as you are their voice. In sharing Ember's story, they hope to foster kindness and understanding, recognising that everyone has their own struggles.