Parents fear daughter with rare condition won’t wake up whenever she goes to bed
Every night when little Aurelia Williamson goes to bed, her parents fear she might not wake up the next morning.
She has an incredibly rare and devastating condition, part of which causes her to stop breathing seven times an hour as she sleeps.
Aurelia, three, has to be hooked up to an oxygen machine at night – potentially for the rest of her life.
Dad Trevor says: “You think: ‘If we go to sleep is she going to be there when we get up?’ You keep watching to make sure she’s still breathing.”
Aurelia suffers from central sleep apnoea, where a person regularly stops breathing while they sleep because the brain doesn’t tell the muscles to take in air. The oxygen machine keeps her levels stable.
That’s just one of the hardships this little girl has had to deal with in her short life. But she has bravely faced every obstacle with a smile.
And that is why today we are asking you – our army of generous readers – to join our campaign to help raise money to change her life and support Aurelia’s Adventures.
As a result of a genetic mutation, Aurelia is blind and can’t sit up unaided, crawl or control her arms or legs. She can’t even play with a simple doll or cuddly toy.
Aurelia has to be fed overnight through a tube in her tummy and has vomited up to 10 times a day at some points in her life.
While she does make noises, she cannot speak and her parents Sarah and Trevor have had to come to terms with the fact she will never see their faces, tell them she loves them or even say mummy or daddy.
Sarah says: “It’s heartbreaking to think her world will always be dark, that she’ll never see our faces and smile with recognition.”
Aurelia is one of only six people in the world with VPS4A-related neurodevelopmental disorder. And so little is known about this condition there are no guarantees she will live to see next year.
It means the family, from Manningtree, Essex, grasp every minute they have together.
Trevor, 38, says: “We live in the moment – we have no idea what the future holds. She could be dead next year. There’s no roadmap. But she fights so hard for everything.”
It was only when Sarah and Trevor got home with their new baby in April 2018, they noticed something wasn’t right.
At 12 weeks she had cataracts removed, but further tests found retinal dystrophy, which had left her blind.
An MRI scan then showed her brain had not developed correctly as a result of this rare genetic mutation.
Aurelia barely sleeps – which means neither Sarah nor Trevor do.
They take it in shifts to sleep beside her. The oxygen is pumped in via a tube in her nose and she is fed overnight through a tube in her stomach. Her bedtime is 8pm but she might wake up an hour later and be up for the rest of the night.
Sarah, 36, says: “Being blind makes sleep incredibly difficult anyway, and being immobile means she can’t get comfortable in bed – we have to physically move her around.”
During the day, Aurelia loves being spun around by her dad and jumped up and down. But she doesn’t have the ability to even clutch a toy.
“Our family doesn’t buy her toys as she can’t play with them,” says Sarah. “As she can’t see, she’s not drawn to them. If you offer her a toy to hold she will try to grasp it, but her co-ordination lets her down.”
Another battle the courageous girl faces is her inability to communicate. “Aurelia tries really hard to communicate with us, but we haven’t yet been able to interpret any of the noises she makes,” says Sarah.
They have started working with a speech and language therapist and are investigating using switches and buttons to convey meaning.
Aurelia receives an hour of physiotherapy a month on the NHS but anything else has to be funded by Sarah, a part-time finance manager, and Trevor – who designs floor plans.
But they believe various therapies could help Aurelia to live a fulfilled life. Sarah adds: “There’s no life-changing surgery or drugs that will make her better.
“She needs intensive physiotherapy, occupational therapy, speech and language therapy to make a difference to her life. We’re working really hard to show her the world in other ways, so she can still experience all the things other children do, just in her own unique way.”
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The dream is to go to the world-renowned NAPA centre in Boston, US, for physical therapy. But at £10,000 per course, plus the logistics of getting there, it’s beyond their means.
Instead the family are hoping to raise £30,000 for private therapy sessions and to adapt their house so Aurelia can have a downstairs bedroom, bathroom and therapy area.
Trevor says: “Everything is so hard for her but she always keeps on smiling. She just gets on with it.”
To join our campaign to help change Aurelia’s life, donate at justgiving.com/campaign/aureliasadventures or text Aurelia to 70085 to donate £5. Follow her journey on Facebook searching Aurelia’s Adventures.
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