MUSCLE DISEASE ORDEAL
Teen has superrare condition:
A TEENAGER has been diagnosed with a rare muscle wasting condition that is so rare just 30 people in the world have it.
Naomi Cooper has the “4J” strain of an incurable neurological condition called Charcot-Marie-Tooth disease (CMT).
Hereditary and genetic, it damages nerves responsible for passing on commands from the brain to the muscles in her arms and legs, and she is now almost entirely reliant on a wheelchair.
The 13-year-old from Amlwch was perfectly healthy until she started having difficulty walking around 18 months ago.
The Ysgol Syr Thomas Jones pupil was finally diagnosed with CMT this year after analysis by doctors at Ysbyty Gwynedd, Bangor, and Liverpool’s Alder Hey. Mum Rachel said: “We were on holiday in Benidorm when we noticed she was having difficulty with her balance and was falling over.
“It was thought she had a prob- lem with her ankle, but it wasn’t until a physiotherapist spotted something was amiss did doctors start to carry out blood tests to see if the problem lay deeper.
“It took a year for them to find out what Naomi’s condition was, and it’s so rare that we only know of one other girl in Britain who also has it, and she lives in Shropshire.”
Rachel said Naomi’s condition has deteriorated rapidly over the past year. “It’s been quite shocking to see how quickly the condition’s got a hold of her, she was perfectly healthy 18 months ago.
“It doesn’t strike until the sufferer is between 11 and 15 years of age, but we’re doing what we can to make Naomi’s life as comfortable as possible. Her school have been fantastic, they couldn’t have more sup- portive.”
Rachel said the ultimate aim is to move into more suitable accommodation as Naomi’s condition worsens. “We’re renting a house from a private landlord, who’s done all he possibly could to accommodate us,” she said.
“But getting up and down the stairs is a struggle, and we’re anxious to move into a bungalow specially adapted for someone with limited mobility. We’re on the waiting list for a council home, so its just fingers crossed.”
The family are also hoping to raise £4,000 to buy a special wheelchair which will allow Naomi much improved mobility to get out and about.
Her grandfather Ian added: “We’ve already raised £2,000, mainly thanks to a charity football match on Boxing Day between lads from Amlwch Port against the townies. That raised £1,200 alone, and we’re so thankful for everyone who thought of us.”
www.justgiving.com/crowdfunding/naomi-cooper-amlwch