Osteogenesis Imperfecta: Why we're so lucky to have our lovely Lucy
Published 05/04/2012 | 06:00
At only four years old, Lucy MacConnell is already showing signs of giving Neil Jordan or Garry Hynes a run for their money.
"Ladies and gentlemen and fellow peasants . . ." the charismatic little girl announces at one of her famous shows at home in Spiddal, Co Galway, before calling on everybody to sing, dance or otherwise entertain the assembled gathering.
Her mother, Niamh O'Brien, a GP, reckons she's got a movie or theatre director in the making. "She's a very sociable child with a really happy disposition, but watch out -- she can be bossy too!"
It's been an arduous journey for this spirited family since Lucy was born with an extreme form of brittle-bone disease known as Osteogenesis Imperfecta (OI) in Portiuncula Hospital in Ballinasloe. But with the help of her mum, older sister Orla (6) and dad Cuan, Lucy has proved herself a determined little fighter, ready to meet all the challenges that lay ahead.
"The thing about having a child with a disability is that some people feel sorry for you, as if you've been handed a booby prize, but that's nonsense," says Niamh. "We feel incredibly lucky to have Lucy just as she is -- and don't feel sorry for her, because she doesn't feel sorry for herself!"
As Lucy turns wheelies on her Dora the Explorer wheelchair, she is certainly a very happy, independent girl, but it was a different picture back in 2007 when her parents were told their baby had been born with broken bones. "It was one of those moments where life changes direction," says Niamh.
Then came the wait while X-rays and other tests determined the extent of Lucy's condition. The news couldn't have been worse. Not only did she have the most severe form of OI, all of her bones had been broken during pregnancy and labour.
"That was incredibly difficult to hear," says Niamh. "I was a breast-feeding, hormonal, post-partum mum and all I could think was that my baby was like a delicate piece of paper and I wouldn't be allowed to hug or hold her."
At four weeks, Lucy was referred to Sheffield Children's Hospital in the UK for assessment. "The doctor there took one look at the big blanket I had carefully wrapped her in and said: 'Niamh, take that blanket off and hold your baby.' I couldn't have been happier. Research has shown that correct handling helps bone density and strength in babies with OI, and Lucy just loved to be cuddled and kissed. It was a huge relief."
Lucy was immediately started on a bone-strengthening treatment which she continues to have intravenously every three months. "This revolutionary treatment helps to 'scaffold' the bones and I don't know if she would have survived without it," says Niamh.
At 16 months, Lucy learned to sit up. It was a milestone, but when she started shuffling about on her bottom, it led to further fractures in her legs. At two-and-a-half, she underwent a major operation in Crumlin Children's Hospital Dublin to have rods inserted into both legs.
"She hasn't had a leg fracture since," says Niamh. "She will need further surgery to replace those rods as she grows, but it won't be as invasive as the initial operation."
Niamh has found great support in her community and online with parents of children with OI. But it is the practical, ongoing help from Enable Ireland to which she attributes much of Lucy's progress.
"Thanks to Enable Ireland's Personal Assistant (PA) service, Lucy is able to attend our local pre-school three days a week. The other two days she goes to Rainbows, the pre-school at Enable Ireland Galway. There she gets speech and language therapy, psychology, physiotherapy and occupational therapy as well as Montessori and she loves it.
"A plaque on the wall reads: 'Please help me to help myself,' and that's what it's all about -- helping children with special needs to live as independently as possible.
"All her pre-school experience has copper-fastened her preparation for our local primary school where she is due to start in September once she is allocated a Special Needs Assistant.
"She's also had enormous benefit from Enable Ireland's hydrotherapy pool in Galway. Because hydrotherapy is a non-weight bearing form of physio, the pool is helping her learn to take her first steps."
And no doubt this extraordinary young girl will progress from small steps to great strides in the years to come.
"We're blessed to have two beautiful daughters," says Niamh. "Our eldest, Orla, is the kindest, sweetest, gentlest child who is so good to her sister. And Lucy is a joyful, fun-loving girl who has made us see that life is to be celebrated and accepted in all its forms, and that's a gift."