Syndrome girl may need walking frame
8:08am Thursday 27th December 2012 in News
LITTLE Grace Brierley has not yet taken her first steps — but her parents have accepted their daughter may soon need a walking frame to help her walk.
The 17-month-old is one of less than 30 children in the UK with a rare, potentially life-limiting syndrome — and there is no cure. Maroteaux-Lamy Syndrome (MPS VI) can cause inflamed organs, deafness and sight problems.
Almost all sufferers have some form of heart disease. Grace’s parents, Jemma Rodzoch, aged 33, and John Brierley, aged 37, from Grasmere Avenue in Little Lever, initially put her sickness and lack of weight gain down to her being small.
But they were given the devastating diagnosis almost six months ago.
Ms Rodzoch said: “She was diagnosed in July. It will affect her skeletal frame. All of her organs are inflamed and it affects her sight and hearing.
“She has orthopaedic shoes and might have to use a walking frame when she starts walking.
She looks like every other child but, if you look at pictures of her when she was born and now, you can see the difference because she has a protruded forehead.
“Grace has a sunken chest and doesn’t have a bridge in her nose.”
The inherited syndrome means sufferers lack the enzymes needed for to aid the building of bones, cartilage and tissues.
Due to there being so few sufferers, it is not known how Grace will be affected by the rare syndrome.
The little girl, who has a five-year-old brother Alex, is receiving weekly enzyme replacement therapy, which takes four hours each session, and helps to reduce nonneurological symptoms and pain. Ms Rodzoch, who has given up work to become Grace’s carer, said: “She’s very, confident and really bubbly.
She’s a live wire now, which must be because she sat for so long before she could crawl.
“It was a shock when we were told about the diagnosis. I thought she would just have to have an injection every week.
When we received information about it, it was really shocking.
“She’s now crawling.
Doctors said the reason she couldn’t initiate crawling before now was because her organs were inflamed.”
On top of her enzyme therapy, Grace also has MRI scans to check her heart, X-rays and regular eye and hearing tests to monitor the symptoms.
A fundraising event inspired by the brave youngster will take place tomorrow at Campbell House in Campbell Street, Farnworth, from 11am to 12.30pm.
Money raised will go to the MPS Society, which supports research, awareness and information for those affected.