When my daughter was nine months old she came second in a ‘Bonny Baby’ competition. She never, ever looked as if she had a syndrome. We were in Butlins Holiday camp and thankfully she wasn’t too sick that particular week. She was nearly always sick, hardly a week went by when I wasn’t at the doctor with her or being sent for tests to the hospital.
After a normal pregnancy and birth and getting the usual tests, we were sent home with the’ all clear’. Áine, however, was born with a palate problem (a classic 22q11.2DS / DiGeorge symptom) which went unnoticed until she was three months old; there were a lot of feeding problems. When the palate problem was eventually diagnosed, I was told to take her home and ‘fatten her up’ before an operation could be performed. This wasn’t easy, as basically she had no suck and found it difficult to swallow. She subsequently had an operation at 5 months, and a smaller repair later on. It didn’t help with the feeding, however. I will never know if she simply lost the sucking reflex or whether there were other reasons for the problems.
Otherwise, I thought—great, at least I know why she is always ill, coughs, colds, ear infections etc. There were some other minor complications, too many to list here, but I put them all down to the fact that she had this palate problem and I just got on with things. Her speech was funny too; she had speech therapy for a time which seemed to help.
Overall, however, Áine failed to thrive and never met her developmental milestones on time—she was late to walk, late to talk, was timid, easily startled and afraid of noise. She was the only child that I ever knew who never wanted to go to birthday parties. In school she struggled, and again was slow and late in catching on to things. Simple maths were problematic for her; she had difficulty understanding concepts and difficulty following instructions. When she was six, her teacher suggested an assessment and the outcome of that was ‘mild mental retardation’ cause unknown. I was clueless.
Nobody sat me down and told me in real terms what this meant, special needs education was mentioned and that was where the focus went. This was 20 years ago and choices were limited. The school where she was at the time did not want to keep her; they had no facilities for children with special needs.
She went to another school with a special needs class; she was bullied and hated it for the four years that she was there. We were then faced with a stark choice when she was eleven, St Michael’s House was chosen—catapulting us into the world of disability, all the while thinking that this was not where she should be. After all, her diagnosis was ‘mild’. Strange word, mild, really, a mild day, a mild cold, a mild pain….I learnt the hard way that mild is only mild in comparison.
Áine, however, loved St Michael’s House and still describes it as the ‘best years of her life’. She was treated as a person. At 15, genetic testing was suggested. The blood tests were taken and lo and behold, a diagnosis! Áine had DiGeorge Syndrome, caused by a micro-deletion on the long arm of her 22nd chromosome. The jigsaw pieces fit together—on researching the condition I discovered that all the answers to all the questions I had were contained in that diagnosis. Great! So it wasn’t that I was a bad mother, and I wasn’t imagining things; there was a concrete reason for all the suffering that we had been through.
But hold on, again, what does this mean in real terms? Now, suddenly, I have this daughter who has gone from being someone who was sick a lot, to someone who has a rare chromosome syndrome. What does this mean? And there was no-one to tell me. Furthermore, she doesn’t even look as if she has very much wrong with her, she walks and talks and can hold a decent-enough conversation.
And I felt tremendous guilt. I thought of all the things that I had pushed her to do and the reality was she hadn’t done a lot of them because she simply couldn’t. There were a lot of ‘if onlys’ and ‘buts’ and regrets. I realised that trying to get Áine to fit in was like trying to fit a round peg into a square hole, it simply was not possible. If she was to succeed in her life it would have to be on her terms and at her own pace. She is 27 now and has achieved many things in her life. She is a Special Olympian who competed in the 2003 World Games here in Ireland and she was one of the people featured in a TV documentary about the athletes. Irish dancing is a lifelong passion and recently she decided to learn to play the fiddle. Áine is also a graduate of the CCL (Certificate in Contemporary Living) course in Trinity’s National Institute for Intellectual Disability (NIID).
Áine is now on track to achieving another of her ambitions, she is half-way through a Special Needs Assistant course in Killester College. She says she just knows how difficult life is in the classroom when you have a learning difference and she wants to be in the classroom making a difference in the lives of younger children. Her empathy in this instance is quite remarkable. Currently she is a valued member of the St Michael’s House Work Options scheme where one of her favorite things is drama. Although she is now doing the SNA course and is quite happy, I have no idea whether or not someone will ever have the necessary vision to hire her. In order for her to do the course, she had to have an up-to-date educational psychological assessment done so that she could get the one-to-one resources that she needs. Nothing, but nothing, is ever straightforward with someone with an intellectual disability. And children grow up— not out of their conditions—I know now that she will always need supports in her life.
There is a huge lack of awareness of 22q11.2DS and other similar genetic syndromes. It takes time spent in the company of people with rare chromosome disorders to gain insight into the nature of a syndrome. They are largely non-visible disabilities and parenting a child with a rare disorder brings its own unique challenges, especially with this ‘mild’ diagnosis. My experience has been that children with this type of diagnosis very often fall through the cracks, medically, educationally and socially, in all ways really.
I needed patience, persistence and, above all, accurate information on what I was dealing with.
Unfortunately that last commodity just wasn’t available, and that left both Áine and me floundering in the dark on many an occasion. I try not to dwell on how much better life might have been for her if she had received the appropriate care and early interventions that she desperately needed. I also wish I could say that things have changed, but they haven’t, not much anyway. I have been very much struck by the fact that parents of adult children with disabilities seem still to be fighting for services. That’s why support groups can actually save your life, at least in the psychological sense. The level of support and information you get, particularly from other parents is quite invaluable.
One of the most frightening aspects of 22q Deletion Syndrome is the now proven and undisputed link to mental health problems. An estimated quarter of children born with 22q will go on to develop schizophrenia. Mood disorders are common, bi-polar is a feature and a number of children also have a dual.diagnosis of autism. ADHD and anxiety are commonplace. It appears that the early years are predominantly taken up with medical concerns, then the focus moves to educational issues, and then finally the behavioral and psychological problems take centre stage as the children grow through their teens and into early adulthood. In very many ways this is the most distressing aspect of the condition. Many parents have made heroic efforts with their children—they fight to get them the extra help and supports needed, through surgical procedures and educational battles, and then just as they think they are ‘out of the woods’ they are faced with psychological and psychiatric issues.
As an organisation we in 22q11 Ireland believe that this situation can at least be improved if more accurate information is made available at point of diagnosis and, in particular, around the ‘mild’ label. Parents are misled by this seemingly innocuous word—what exactly does the word ‘mild’ mean? We are told in very many cases that our children have a mild form of this condition and yet no.one can accurately predict how and when some symptoms will manifest themselves. Looking at the vast majority of people with 22q11.2DS, it is not an instantly recognisable syndrome. This can and does cause serious misunderstandings, especially in social situations and also in terms of gauging capabilities. As has been suggested, the fact that you can’t see a disability doesn’t mean it isn’t there. The fact that it has been deemed ‘mild’ doesn’t make it any less difficult to deal with either—in some cases (especially when it comes to looking for entitlements) it can make life infinitely more difficult. Families are denied allowances because of this mild diagnosis; our children are not seen to be ‘disabled’ enough. This is spite of the fact that, because of their caring duties, many mothers are restricted in terms of seeking employment. Also, as our children grow older it becomes increasingly apparent that they will never be able to live wholly independent lives; they will always need varying degrees of support.
Although every child with a disability, diagnosis and family is different, there are common concerns that we all face. Issues that connect us involve getting the appropriate care and supports for our children with medical and educational issues; easier access to entitlements; promoting inclusion and acceptance in our schools, communities and workplaces; and planning for uncertain futures.
Whatever the diagnosis may be—mild, moderate or severe, whether a disability is present from birth or acquired (as 75% are), whether they are intellectual or physical or of the type that accompany old age, whether they are visible or invisible, verbal or non-verbal—disabilities are simply part of the human condition and real inclusion firstly means acceptance of that fact.
A LITTLE ABOUT 22q11 IRELAND
22q11 Ireland is a registered charity that provides help and support for individuals and families affected by 22q11.2 Deletion Syndrome /DiGeorge Syndrome/ Velo.Cardio.Facial.Syndrome. Through education, research, outreach and advocacy we seek to raise awareness of this little.known condition. 22q11 Ireland has developed relationships with similar organisations nationally and internationally and will proudly host of the VCFS Educational Foundation’s 20th International Conference in 2013.
22q11 deletion is the 2nd most common genetic syndrome, estimated to occur in 1 in every 2000 births (12 births per year in Ireland). 22q11 deletion is a multi.system disorder with a varied expression. Some can be have ‘mild’ symptoms and some are more severely affected. Being born with the syndrome can cause significant medical difficulties, including congenital heart disease, palate abnormalities and immune disorders. There are over 180 different clinical features associated with the condition, giving rise to learning, social, cognitive and psychological challenges throughout the lifetime of those with the deletion. For more information on 22q11Deletion Syndrome, see: www.22q11ireland.org