Orpington girl 'constantly smiling' despite suffering from rare genetic disease

Dad Dean, 4-year-old Adam, mum Emma and Freya

Dad Dean, 4-year-old Adam, mum Emma and Freya

First published in News
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News Shopper: Photograph of the Author by , deputy news editor

In April, 18-month-old Orpington girl Freya Huckstepp was diagnosed with Cockayne Syndrome (CS) - a rare genetic disease characterised by premature ageing. Despite this, she is an amazingly happy child, described as "constantly smiling" - even in the face of her struggle. PATRICK GRAFTON-GREEN finds out more.

When Freya Huckstepp was born, in January last year, her parents, Emma, 35, and 38-year-old Dean knew something wasn't right.

Despite a normal pregnancy, Freya had a tiny head and frame, cataracts in both her eyes and was suffering from severe hearing loss.

Both her legs had to be put in plaster casts because bones in her feet were growing outwards.
Because of her many, varying symptoms, doctors were unable to diagnose Freya until over a year later, in April.

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Mum Emma said: "We didn't know what was wrong with her initially.

"Before the diagnosis it was like treading water - but sometimes you are drowning more than floating.

"We'd researched CS online and thought we saw a picture of Freya. But it wasn't Freya - it was actually an American baby who looked just like Freya - so we kind of knew then.

"Despite that when we did find out - in a letter from the hospital - it was like being punched. It winded us. It took days to come to terms with it."

The family, which also includes four-year-old Adam, live in a tiny house off Orpington High Street.

Emma - a former designer for an architecture firm - has had to quit her job to look after Freya full-time, while Dean is self-employed as a painter/decorator.

Now 18 months old, Freya is taken to hospital on a weekly basis. She can hardly see or hear and is unable to hold her head up - which means the rest of her body does not develop - while her legs are in plastic splints.

She requires a lot of specialist equipment and is fed through a machine - directly to her stomach - with huge deliveries of milk, tubes and syringes made every week.

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Despite this she has a decidedly sunny outlook.

Emma said: "She is happy, she really is happy - she is constantly smiling. 

"She's been getting into YouTube - she's found that if she didn't like it she can swipe the page. 

"She likes Gorillaz videos. During Glastonbury she got into a bit of Metallica.

"She likes dancing, she likes movement and she likes noise."

Emma says Freya's relationship with her brother is particularly heart-warming.

She added: "She knows her brother - he knows how to calm her down.

"She smells him and knows he's there and she will go for cuddles. She giggles so much she starts hiccoughing.

"She can do something so small and it means so much to us, it is just so amazing."

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For details on how to donate money to Freya's cause click here.

The Huckstepp family are also hoping to build a new shed outside their house - the last one was badly damaged during bad weather - in order to store Freya's equipment, as they struggle to fit it all in the family home. 

List of equipment used:
150 bottles of milk delivered every week
Thickener
Feeding machine
Syringes and tubes to attach to feeding machine - also delivered on a weekly basis
Bandages for her legs - also delivered every week
Special car seat
Support chair - supports her spine and chest
Buggie to help her get around 

If anyone can offer their services to the family, please call News Shopper on 01689 885711.

To find out more about Cockayne Syndrome, visit charity Amy and Friends.

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