As we progress through Rare Disease Day, you’ll read lots of useful facts and figures about 22q.
Rather than give you more of that type of information, this post is about one mother’s experience of having a child with 22q.
Many thanks to Anne Lawlor for this very personal account. Many thanks to Aine for allowing this account to be written by her mother and read by you.
Anne’s Story
Áine Lawlor was born on the 8th of September 1983. Apart from the fact that labour was induced, the delivery and the pregnancy was normal enough, with no complications. The only thing I can say that was anyway untoward was that the placenta was retained after birth. We were allowed home after our few days in hospital and I was looking forward to it and being back with my son who was 5 at the time.
Áine was a slow feeder – however – things did not improve when we got home. Despite the community health nurse’s concerns, and my own, the doctors assured me that all was well. Still, she was failing to thrive and I spent a lot of my waking hours trying to feed her. The CN sent me back to the hospital but again they told me all was well and I was worrying unduly. They eventually discharged her at 8 weeks, seemingly satisfied with her. The feeding problems continued. However, one day when she was 3months old the same CN got a good look down her throat while she was crying (she cried all day most days) and got me an immediate appointment with the local doctor. This particular doctor was immediately able to say that Áine had some kind of a palate problem. A hastily arranged appointment with a consultant confirmed this and I was told that she needed an operation but first I was to bring her home and “fatten her up”.
Even after the palate repair there was always something wrong with Aine. 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 was no rough and tumble. I remember the first year of her life in particular; she had an antibiotic practically every month. From then on in 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 when she was six, at her teacher’s suggestion, she was assessed. Mildly mentally retarded – the cause of diagnosis was unknown. Sure I thought ‘mild’ was, well, mild. 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. I’ve learnt the hard way that when your child is diagnosed as mild it’s only mild in comparison.
Mainstream schools didn’t want to know about her after this diagnosis. They said they didn’t have the required resources to teach her. So I had to find her another school. But the problem was that Áine didn’t seem to fit in anywhere. A school with a ‘special’ class was eventually found and Áine remained there until she was eleven. I’m afraid to say that she had been bullied in this school to the extent of which I only found out at a much later date.
A decision to send her to Special Education was made and Áine spent what she says were ‘the best years of her life’ there. She was a different child in this atmosphere and flourished as a big fish in a little pond. This school had a medical clinic and when Áine was fifteen genetic testing was suggested – now that was some shock when the results came back. 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. Again, in hindsight, perhaps I didn’t know how to take in what was being said, I don’t know. All I knew was that for fifteen years my child had been ill and now suddenly she was ill because she had a syndrome – that was a very frightening place to be. To make matters worse, no one I spoke to had ever heard of this syndrome. 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 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? Did this mean she was different in some radical way? What were the differences? How was I to help her come to terms with this and how was I to come to terms with it myself? Although Áine has 22q11.2 deletion syndrome, 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 the grips of the medical problems, you’re then faced with the psychological and emotional ones.
It was difficult to get her to gain confidence and self-esteem. That’s really, really difficult and with these children it’s so easily knocked too. It’s very painful as a mother to witness this emotional pain. I suppose it is what you would call it, I mean how exactly do you help a child with a learning disability, learn self-acceptance?
So they gave me a diagnosis and the name of a support group in England. They did a few tests on Áine and sent me on my way – I was too much in shock to be angry about that at the time. There’s an enormous expectation on mothers I feel, even now mothers are expected to take the full brunt of the inevitable problems experienced with caring for a child with special needs. You need a team around you really, a very supportive team.
It can be a lonely place for a mother too, no one really knows what you are going through, until, that is, when 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. Support groups are vital really – they make a difference between feeling hope and despair, between hanging on in there and giving up, they’re a source of life really. It’s only now looking back that I can see the huge emotional and psychological toll that loving and caring for a child with special needs can have on a family. Even my friends have been affected to a certain extent. All my relationships have been affected.
Áine is grown up now. In chronological terms she is an adult but it’s like she has a never-ending childhood.
And as for being grown, 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 or 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?
Will there be anyone to look out for her if I’m not around, when I pass? These are just some of the many questions that crop up over the life span and ones that you don’t naturally think about when your child is diagnosed. I know 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 live as normal a life as possible, with all the uncertainty that entails.
Posted on 29th February, 2016. Copyright Conor Mc Guckin
