“There was always something wrong with my daughter; she was always sick, always struggling to do things that other children did so easily. Everything came late, walking, talking, running - she never climbed, rarely injured herself in the rough-and-tumble of play because there just was no rough and tumble.”
That is how Anne Lawlor, who lives in Marino, Dublin, recalls the childhood of her daughter Áine (now 34), who continues to live with the genetic syndrome "q22" and its associated schizophrenia.
She remembers Áine’s first year of life in particular; she had an antibiotic practically every month.
“From then on it was frequent visits to the doctors and hospitals. She suffered especially with ear and throat problems. And the thing was, she was born perfect; a really pretty baby and even won a bonny baby competition once.”
Áine was late starting school, and, at her teacher’s suggestion, she was assessed when she was six. “Mildly mentally retarded – cause unknown” was the diagnosis.
What Anne describes are the classic symptoms for people with q22. Most cases are not confirmed at birth because the symptoms are so mild. They add up, however, to significant disability, she adds.
“I had no idea of what it meant, and looking back no one really explained it to me. Or perhaps I didn’t know how to properly assimilate the diagnosis. Either way, the term ‘mild’ is a misnomer.”
The latest research breakthrough raises the possibility of very significant progress from a clinical point of view, she says.
If new treatments emerge, they would be “super”, not just for those with q22 but also for their families. “It would be phenomenal. Scientists have been trying to crack this for years.”
When Áine was 15 genetic testing was suggested. “Although I had no problem with the test it never ever dawned on me that Áine had a genetic syndrome. It was like someone had taken the ground out from under me. I had absolutely no knowledge, not a shred of knowledge as to what this implied.”
To make matters worse, no one she spoke to at that time had ever heard of q22. “Oh sure, the genetic consultant was able to tell me that she had a deletion on the long arm of her 22nd chromosome and that that was the reason she had been born with a palate problem, and it explained all the other more minor medical and behavioural problems too, but what did it mean in real terms? What did the future hold?”
She got such little support that she set up the 22q11 Ireland Support Group. Three families joined. After 10 years that has expanded to 170 families – yet the reality is there are more than 2,000 people in the Irish population have the condition. Many go undiagnosed, while others only find out later in adulthood when they have children.
Although Áine has what is medically called 22q11.2 deletion, “she is very self-aware and looking at her you would never know she had a syndrome, but she knows she is ‘different’– when you get to grips with the medical problems you’re then faced with the psychological ones”.
It can be a lonely place too for families, Anne adds. “No one really knows what you are going through, until that is you meet someone else in the same boat. It’s a huge relief to connect with other families, other mothers who have had the same experience and are struggling with the same daily concerns as you are.
“In a sense they become your ‘new’ family because of the identification and understanding that you get from each other.”
Áine is grown up, but it’s like she has a never-ending childhood. “That just brought a different set of worries: Will she get a job; if she does will the people she works with understand her, accept her the way she is; do you tell them?
Will she get married – have children? Will her children be affected, who decides whether or not she should do these things? Has she the capacity to decide for herself?”
She knows all parents never really stop worrying about their children. “But you realise that with a special needs child the problems are ongoing; you never really feel on ‘safe ground’, and the best you can aim for is that they lead as normal a life as possible, with all the uncertainty that entails.”
Strain comes in many forms, Anne points out. Families deal quite well with the physical symptoms, she believes. “They struggle with their child through the school years, but the mental health effects are devastating.”
