When Gary O’Kelly-Lynch was nine years of age, he said to his mother: “God is very mean for what he did to Lauren. Why did he do it?”
He was referring to his younger sister, now aged 25, who has a rare genetic disorder – Cornelia de Lange syndrome (CdLS). The condition, which affects about one person in 30,000, is present at birth but not always diagnosed until later. It causes multiple disabilities with lifelong physical and behavioural difficulties, as well as moderate to profound learning difficulties.
Symptoms of CdLS include a very small head, hearing problems, digestive problems and challenging behaviours. Typical facial features include thin eyebrows, sometimes forming a mono-brow, long eyelashes, a short upturned nose and thin down-turned lips. CdLS babies have a very low birth weight.
Eleanor O’Kelly-Lynch says her daughter had all the symptoms of a CdSL baby. “She was born a few weeks premature, weighing just three pounds and five ounces. But I didn’t think there was anything wrong with her. I just remember hearing the word ‘abnormality’ in the hospital. Lauren was put into an incubator straight away. Blood tests were carried out. We were told she was going to be severely retarded, as they put it. After three days, we got the diagnosis of CdSL.”
Prone to reflux
Lauren is “classic CdSL. She has tiny hands and tiny feet, a very small head, eyebrows that slightly meet in the middle, and long eye-lashes.”
Now in her mid-20s, Lauren weighs about 3½ stone and wears clothes for nine-year-olds. She has to wear nappies and can’t eat solids as she is prone to reflux. Her mother and father, Derek, had never heard of CdLS until their daughter was diagnosed. Nor had their GP heard of it when he was told about Lauren.
The middle child in this Cork-based family, Lauren lives at home and attends the day care centre at the Cope Foundation in the city which supports children and adults with intellectual disabilities.
“Lauren is still really a baby. She’s non-verbal and drinks from a bottle and can only eat puréed food. It’s hard to say what her mental age is. It’s probably about two. We’re lucky that Lauren doesn’t have behavioural issues. She’s quiet, unlike some CdLS children who can be very hard to manage.”
O'Kelly-Lynch, a self-employed training consultant, was appointed as the Ireland co-ordinator for the UK-based CdLS Foundationlast year. She stresses the importance of keeping in touch with other parents of children with CdLS through conferences, attended by CdLS specialists, and family days.
“If you have a child with a disability, people think you go through phases like shock and denial. But it’s nothing as simple as that for me. You can get on with things but then you go back to grieving again. When Lauren turned 18, I cried for about five hours that day. I realised that I had already grieved for the loss of her childhood and I was starting to grieve again for the loss of her adulthood. It’s like groundhog day. I knew that Lauren was going to have the same life in adulthood as she had when she was a child. It’s hard to grasp, but her life is pretty joyless.”
While there are activities such as baking at the Cope Foundation’s day care facility, “Lauren really has no interest. I often say that it’s not so much the disability that’s hard to live with. It’s the misery and her total lack of engagement, most of the time. Since she hit puberty, she sort of dipped, mood-wise. Her default mode is low mood. She gets an occasional period. It’s cruel.”
Agitated
Lauren doesn’t really display affection. “She’d never kiss you, but she might sit on your lap.” When Lauren is agitated, she digs her thumbs into her cheeks, drawing blood. “Sometimes, we have to put socks on her hands.”
CdLS International Awareness Day is this Saturday, with City Hall in Cork to be lit up in purple, the colour of the CdLS Foundation logo (text FRIEND to donate €4).
O’Kelly-Lynch says there are about 24 people with CdLS in Ireland. “There might be another 10 we don’t know about.”
In treating the condition, the emphasis is on improving the quality of life for people with CdLS and supporting their families. The Cope Foundation gives the O'Kelly-Lynchs weekend respite once a month.
O’Kelly-Lynch says she was brought up “to get on with things. I agree with that. You can’t be moaning and groaning. You have to get on with your life. But every so often, you’re entitled to sit back and admit you’re in despair. Because it’s a very despairing thing. When I do that, I realise I don’t have to keep everything in. It’s not that I don’t want to admit it to other people. I just don’t want to be seen as a victim, or ‘the poor mother, god love her’.
“I have loads of things in my life. I’m very healthy. I have two other children and I’m a grandmother. I don’t feel like a victim at all.”
Lauren doesn’t watch television. But she does derive some pleasure from life. “All she wants is a nice fire in the grate, a couch and a bottle of Fortisip, a fortified drink that she loves. She might go for a walk every so often.”
Asked what O’Kelly-Lynch said to her son all those years ago about God’s meanness towards Lauren, she replied: “I think God made Lauren like that to remind us how lucky we are and to make the most of what we have. I actually believe that. Hopefully, my other children are aware of that. It’s good to understand that you’re privileged if you’re healthy and strong. And we’re more aware of disability because of Lauren.”
