'Amazing' Aurelia, 3, is one of six in the world with rare genetic condition
- Credit: Sarah Williamson
"Smiley and sociable" Aurelia — who was born with an incredibly rare genetic condition that affects only six people worldwide — has been described by her mum as "just like any other three-year-old".
Aurelia Williamson has faced a number of hardships since she was welcomed into the world by mum Sarah and dad Trevor, back in 2018.
But the Bradfield toddler has bravely faced every obstacle with a smile on her face.
The three-year-old was born with an incredibly rare genetic mutation, VPS4A related neurodevelopmental disorder, which affects only six people worldwide.
She is completely blind, non-verbal, tube fed and is severely physically disabled, meaning she cannot yet sit unaided, crawl, stand or walk.
But Mrs Williamson said none of this has stopped "the dare devil", who loves nothing more than being spun about by her father, jumping around and going on her swing.
"She is the most amazing little girl," said the 36-year-old, who works part-time at the University of Essex.
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"She has the most beautiful smile and a ridiculously infectious laugh. She laughs so hard she goes silent and almost vibrates.
"Even though everything is so difficult for her she is definitely improving and she works so hard at her physiotherapy sessions.
"She is really sociable and very happy, and loves going to nursery and interacting with the other children.
"She is treated like a celebrity there as all the children love her. They bring toys to her, sit around her chair and describe them to her as she can't see. At nursery she gets to be like all the other kids."
Mr and Mrs Williamson only noticed something was different about Aurelia a few weeks after she was born.
At 12 weeks she had cataracts removed from both eyes, but further tests found retinal dystrophy, which left her blind.
An MRI scan then showed her brain had not developed correctly as a result of the rare genetic mutation.
She was only diagnosed at the end of last year, but even this hasn't cast much light on what life will look like for her, as there are only five other people with the condition in the world.
Mrs Williamson said there is no cure or special treatment which can help Aurelia, instead they rely on intensive physiotherapy, occupational therapy, and speech and language therapy to "give her the best chance at life".
"She has made so much progress, but she needs regular intensive therapy which has been difficult during the lockdown," explained Mrs Williamson.
"She loves doing physio and she is desperate to be able to stand. She always tries to communicate with us, even if it's just noise and shouting."
Mrs Williamson said they budgeted to have a family, but not the support Aurelia needs, admitting the last few years have been tough.
She said: "The therapy she needs costs around £1,000 a month, and that's the minimum. Ideally, we would like to take her to more sessions so she can have the best chance, as she is very receptive to it.
"We don't know what the future holds for her, but we want to spend as much time with her as possible, although that can be difficult with the sleepless nights and appointments."
The Williamson family know that early intervention is key to children with neurodevelopmental disorders and said they are desperate not to miss the opportunity for Aurelia to "unlock her true potential".
The pandemic has caused the family a number of problems with getting therapy appointments, as everything was forced to shut last March.
Video appointments and phone calls replaced the regular face-to-face appointments, and the couple found it hard to keep Aurelia entertained while juggling work.
That's why they are fundraising for Just4Children to provide Aurelia with access to regular and intensive blocks of physiotherapy, occupational therapy and speech and language therapy.
They are also hoping to raise funds to provide Aurelia with specialist equipment which could drastically improve her quality of life and allow her to play alongside her friends.