Around 12 babies are born every year with a genetic deletion syndrome called 22q 11. Áine Lawlor and her mother Anne talk to Fiona Tyrrellabout life with the syndrome.
I AM 24 years old. I was diagnosed with 22q 11 when I was 15. I remember that the room was full of doctors, when we were told. Getting the diagnosis meant things made sense.
For me 22q means I get tired a lot, have leg pains, find maths and money hard to manage and have ear, throat and palate problems.
I had always wondered why I was the one to be picked on and bullied at school. I worked hard but was behind all the time. I had one friend, but still I found every day hard. When she was not at school, I felt very alone.
When I was 11, I changed to St Michael's special needs school in Ballymun. It was brilliant. It was the best thing that ever happened to me.
I was a happy teenager and I was encouraged to try everything, even if I thought I couldn't do something.
Now I am doing a certificate in contemporary living in Trinity College. It is a two-year course. I go there three-and-a-half days a week. The subjects we do include art, drama, reflective studies, English, music, poetry and maths, which I find the hardest.
There are 28 in my class and I travel to college by bus from my home in Marino and have my lunch in the city centre.
I really like college. Before that I went to Killester College of Further Education and did a childcare course. After, I worked in a creche as part of a Fás scheme. I didn't like it. The people I worked with were fine, but working with the kids was pressure, pressure, pressure.
I like to use the word "difference" not "disability". I was an athlete in the Special Olympics. It was great fun. Some people took it very seriously, I just enjoyed myself.
The Special Olympics changed people's attitude in Ireland. People realised that even though you were different, you can do something. People understood difference.
I am trying to get a job for the summer to keep my mind occupied, but I am finding it very hard. I write in my journal every day. As JK Rowling says: "Let the pen be your friend."
Áine's mother's story:
ÁINE HAS been in and out of hospital since she was born. In her first year, we practically lived in the hospital. She has had numerous operations on her palate and ears.
When Áine was six and she started at school, we began to realise that she was different. She was given a psychological assessment and we were told that she was "mildly mentally retarded". Mild is a very deceptive term.
However, it was not until she was 15 that she was diagnosed with the syndrome. The diagnosis explained many of the difficulties Áine had been experiencing.
It was like the missing piece in the jigsaw. It explained why she had so many palate problems and why her ear, nose and throat gave her trouble. It explained why she didn't meet her developmental milestones and shed light on her communication and learning difficulties.
That said, the diagnosis was a big shock. We went from having a child who was just sick to a child with a syndrome that we knew nothing about.
However, aside from the diagnosis, there was very little help. I was told of a support group in the UK and that was it. I was angry that the diagnosis was so late. So much could have been done for her earlier in life.
Two years ago, we went to a conference about the syndrome in Britain. I met a couple from Cork whose son John has the syndrome.
We decided to set up an Irish support group and held a conference last May and more than 100 people attended. What was striking was the lack of awareness about the disorder.
We set up the support group so other families would not have to go through what we went through. With the right help and early intervention, these children can really lead good lives.
For some families when the child is diagnosed, a parent is also diagnosed too. It is a double whammy that can prove to be very difficult.
One of the biggest challenges is that Áine's disability is not physically apparent. In one way that is great. She is not sticking out. On the other hand, it leaves you with the big question: "Do I tell people?"
I let people get to know Áine first before we tell them. Often they know themselves.
The 22q 11 support group will be launching its new website (www.22q11ireland.org) on Thursday, and will be holding a conference in September. For further information contact 087-741 2856
22q 11 Syndrome: the facts
After Down syndrome, 22q 11 syndrome, or velo cardio facial syndrome, is the second most common genetic deletion syndrome. It is estimated that 12 babies are born every year in Ireland with the syndrome and around 150 families in Ireland are affected by it.
The extent to which a child will be affected is varied and impossible to predict. There are around 150 possible anomalies caused by the deletion and individuals can be affected by many, a few or live life with no discernible problems.
The most common symptoms of the syndrome are heart abnormalities, cleft palate, speech and feeding problems and learning difficulties.
Ninety per cent of individuals with 22q 11 deletions need specialised educational programming. They will struggle with cognition, speech and language and will experience physical and mental health issues.
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