To every relative, friend and professional…
I write this with the hope of bringing change for anyone who knows any child or adult with a life changing condition like r(20) syndrome.

Life changing conditions can be many things: visible, invisible, confusing, scary, and sometimes fatal.

This became the reality for Ella, the daughter of my very special, childhood friend and her family.

Ella initially seemed like many little girls with her long blonde hair and infectious smile who counted the days to her next dance show.
However, it was not long before moments of doubt started creeping into conversations between me and Ella’s mum, “there’s something not right” she would tell me. Initially it was small differences in Ella’s learning and behaviours that became noticeable. Then came the phone call telling me that they thought Ella had epilepsy.
As time moved forward, I increasingly saw Ella’s crazy sense of humour combined with a ridiculous determination and resilience. Ella was strong minded but somehow graciously accepting of every hurdle she faced.
The family continued with what appeared as normality, holidays abroad, playdates, days out bowling, the theatre followed by evenings in restaurants. Behind closed doors and sometimes in front of all to see the battle to survive slowly started to creep in.
It took several years, many, many seizures a day, trials of medications, ambulance calls, tests, investigations, more waiting, and months’ long hospital stays before a diagnosis of r(20) was given.

r(20) can be cruel, debilitating, strong, challenging, hurtful and angry.

How do you survive the unknown, a relatively unknown condition worldwide, unknown by medical professionals, unknown by teachers, social workers, childminders, friends, and family, all those we would normally look to for help.
I watched every family member fighting their own private battle of grief and loss and that was when Ella was still alive.

To continue to support and fight a new battle of hope on behalf of Ella, her family and all those who continue to be affected by life changing conditions, I as a friend and observer ask each and everyone of you to go the extra mile:

• Medical professionals: keep pushing the boundaries of medicine.
• Educational professionals: continue caring, never assume, keep pushing for change so that more children’s needs can be met.
• Social Workers: fight for funding where you’re told you won’t get it, fight for the whole family’s needs.
• GP’s: ask the extra question, think wider, even when you’re told there isn’t the time.
• Employees: be kind you can make huge differences.
• Friends and family: never judge what you don’t know, be kind, be prepared to feel uncomfortable, be there.

Ella and her family did receive huge support and kindness in many areas, in others it came too late
– we need more change than ever before.

Ella sadly lost her battle with r(20) syndrome in January 2023, aged just 15.