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Brave tot with rare syndrome walks for the first time

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This is the moment a tot with a rare genetic condition took his first steps without a walking frame.

Charlie Shea, two, shocked his parents last Thursday (April 3) when he unexpectedly started walking using only walking sticks for support.

Charlie has 20p duplication syndrome, a rare genetic condition which causes a wide range of physical and developmental challenges.

Until now, Charlie had only been able to walk a few steps using a walking frame but when he tried the sticks for the first time, he set off confidently.

Mum Natalie Fenna, 38, based in the Wirral, Merseyside, said: "The ladies tried him with the walking sticks and he walked with them for the first time straight away."

"Before this, he could only walk a short distance with a walking frame."

"Me and his dad were so unbelievably shocked that he'd done it."

"He just keeps smashing life."

Charlie was diagnosed with 20p duplication syndrome when he was just four months old.

Natalie said: "We got a diagnosis after fighting for doctors to listen to all the problems we were having."

"I was told over and over again he was fine and I was being over-emotional after just giving birth."

Charlie's condition means he experiences a range of complex symptoms.

He has hypotonia - low muscle tone - in his trunk, while his legs are hypertonic, which is increased muscle tone.

He also has global developmental delays, is non-verbal with gestalt language processing disorder and has spinal abnormalities including vertebrae fusions.

The condition means that he's closely monitored and regularly sees a wide team of specialists, including physiotherapy, occupational therapy, speech and language therapy (SALT), audiology, ophthalmology, long-term ventilation team, community paediatricians, orthotics and orthopaedics.

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