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Amber Meets the Queen!

A YEOVIL girl who defied expectations that she would never walk presented the Queen with a posy of flowers yesterday.
Amber Partridge, seven, was born with a rare genetic disorder, known as CDKL5, which affects fewer than 200 people worldwide and saw her suffer up to 100 fits a day.

 

Until last year, her parents Carol-Anne, 39, and Adrian, 48, thought she would never walk but they were proved wrong when she began taking steps with the aid of a walker.

 

And thanks to ground-breaking physiotherapy in January, Amber’s condition has improved even further. She has started walking short distances on her own and can finally ride her tricycle. Carol-Anne said: “Before the physiotherapy, you could walk with her holding one hand but she would be really wobbly.

 

“Now she can walk, taking all the weight on her feet. She walks everywhere now holding someone’s hand. It’s opened up a whole new world.

 

“When we went to the clinic they asked what we wanted to get out of it, and I said I would be happy for her to walk holding my hand. The fact she wants to stand up and wants to take a few steps on her own is massive. “My goal is for her to walk independently. I think she will.”

 

The CDKL5 gene provides instructions to make protein that is essential for normal brain development. Most people who suffer from the gene mutation cannot walk, talk or feed themselves, and are dependent on others. Although Amber can still not talk, she can feed herself and her mum hopes that one day she will be able to communicate using technology called Eyegaze.

 

The system, which observes one of the users’ eyes via a video camera, allows people who are unable to control their movement and speech to interact and communicate. But, at £12,000, it does not come cheap.

 

On top of the challenges posed by the CDKL5 condition, Amber, a pupil of Fiveways School in Yeovil, suffered another setback when she was admitted to Bristol Children’s Hospital after her diet restrictions were relaxed to allow her to have school dinners.

 

During tests, doctors noticed she had a small hole in her heart. Although they are still investigating, doctors now think the seizures Amber suffers are cardiac related rather than epileptic.

 

Carol-Anne believes the change in her daughter’s diet caused her health to deteriorate which resulted in the hospital admission. But she said she was grateful that it drew attention to the heart condition.

 

Last year, Amber’s mum founded a UK-based charity, under the umbrella of a charity for a similar genetic condition called Rett Syndrome, to offer support and advice for families of people with CDKL5.

 

She said: “In the last eight months we have raised more than £10,000 for support and research. Our aim is to reach more families and educate doctors as they are still not diagnosing it enough in this country.”

 

The family was asked by South Somerset District Council a few weeks ago if Amber would be well enough to present the Queen with a posy. Wearing a silk dress in green – the colour of the CDKL5 charity’s logo – Amber presented the gift just after the royal couple’s tour of the Jubilee Fayre at Ninesprings.

 

Carol-Anne added: “I nearly fell over when I got the letter.

 

“It’s been so exciting and overwhelming.

 

“I explained Amber’s progress to the Queen and she said, that’s good that she’s getting up and on her feet.

 

“The Queen said she liked the colour of the flowers that Amber gave her. Amber was really excited.” The above article is from the Western Gazette – Yeovil and can be found by clicking here.