Maroteaux-Lamy syndrome
Chloe Smith and Tina Hughes
CHILDREN and staff at a primary school raised almost £200 towards helping one little girl who has an extremely rare condition.
Chloe Smith, a pupil at Churchwood School, was diagnosed with the genetic condition mucopolysaccharide disease (MPS 6) when she was just two.
The disorder is so rare there are only around 30 other cases in the UK.
The school and its nursery held a fundraising day where everyone wore blue clothes and held a cake sale at the end of the day to raise money towards the MPS Society. Blue was chosen by Chloe as it is her favourite colour to wear. Pupils also attended an assembly during the day to help raise awareness about the disease.
Chloe, who is six, had to travel regularly to Great Ormond Street Hospital in London until recently for specialised treatment. Her mum, Terri Parsons, of Roundwood Road, St Leonards, said: “The disease affects Chloe’s mobility greatly and she gets tired very quickly. She has to have enzyme replacement once a week. Chloe had to go to Great Ormond Street to get it but she now receives the treatment at home.”
MPS6 is also known as Maroteaux-Lamy syndrome, named after the two French physicians who discovered it.
The disease is caused by a lack of an enzyme called N-acetylgalactosamine 4-sulfatase.
Symptoms include clouded corneas, deafness, thickening of the dura (the membrane that surrounds and protects the brain and spinal cord), and pain caused by compressed or traumatised nerves and nerve roots.
Mrs Parsons, 36, added: “We first found out about the condition after Chloe fell off a trampoline when she was two. She ended up paralysed but the feeling slowly came back. Doctors couldn’t understand why this had happened to her in the first place. So she went to Great Ormond Street and underwent tests before she was diagnosed.”
Chloe takes tablets for her heart as she has a leaking valve because of the condition.
Her mum, Debbie Driver, who is Chloe’s respite carer, and Tina Hughes, Chloe’s individual needs assistant, at Churchwood, intend to take part in a sponsored parachute jump to raise more money for the MPS Society.
Mrs Parsons, Debbie and Tina would like to thank everyone who has already contributed to the fund and welcome any further donations. Ring 01424 852326.
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Saturday 25 May 2013
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