Joy Wrapped in Joy

This is Amelia, she has a rare genetic disease. Keep these things in mind.

She has a de novo mutation of the KCNB1 gene...

Causes a complicated seizure disorder. It is uncontrollable by drugs (the worst bit). She has multiple seizures every single day

Affects all self help skills so Amelia is reliant on others for all her basic care needs (feeding, toileting, dressing, communication, mobility)

Is responsible for her overall neurological disfunction that affect her ability to control everything, and manipulate her body like a Neurotypical person can

Lowers her threshold for infection and illness

Complicates every single aspect of her daily life

Most likely means she will be a forever child

She is high risk for SUDEP (Sudden Unexpected Death in Epilepsy)

What this mutation does NOT do.....

It does NOT affect her happiness (she smiles every day)

It does NOT affect her ability to enjoy life

It does NOT affect her resilience

It does NOT affect her ability to think and feel

It does NOT affect her love for Toy Story 4, dogs, balloons, ball pools, books, music, ripping up paper and the people in her life

It does NOT affect her ability to teach others it's ok to be different

It does NOT affect her ability to spread joy (she is Joy wrapped in Joy)

She has what others strive for happiness in the everyday, the small things, she is fully present in the moment and only lives in the here and now with no fear, worry, stress, regret, anxiety of the future (that's for mummy and daddy).

When Amelia was diagnosed there was about 70 cases known. In 2021 there was a research paper written based on only 36 children. This year we were part of a research study. They aimed for 50 participants and I know in March at a KCNB1 conference in France that I attended online they said only 1 UK family were involved so I assume that was us. Now KCNB1 Org website estimates there are 150 known cases worldwide.

Amelia's ability to smile daily, derive joy from each moment, and inspire hope remains untouched by the complexities that define her daily life.