Andrew - a Gift of Love, Laughter and Hard Work
Presentations at the 1st World Conference IASO - Tampere, Finland, 4-8 July, 2000
Presented by: Simone Kennedy - President ASA (Angelman Syndrome Association - Australia) & IASO - Simone.Kennedy.IASO@angelmansyndrome.org
My name is Simone Kennedy. I live in Engadine, a small southern suburb of Sydney, Australia. I am a Primary School teacher, the President of the Angelman Syndrome Association Australia, and the IASO, and a mother of three children. My son Andrew, who is 12 years old, has Angelman Syndrome and is deletion positive. He has two sisters, Emma (9 years) and Renee (6 years).
The story of each child with Angelman Syndrome is unique, and yet there are many similarities that bond our children and thus our families together. As President of the Angelman Syndrome Association Australia, I have spoken to countless mothers of children only just newly diagnosed with Angelman Syndrome. I have lost count of the times that I have said to them - Yes, Andrew did that when he was younger, or Andrew does that as well. And so, there are many episodes within the lives of our children that provide a deep and emotional link between all our families. In this way, I hope that the story of Andrew's life will elicit memories, acknowledgement of similar stories and of the links we share, and perhaps motivation for each of us to reach out and provide greater support to others.
Andrew is in many ways a typical Angelman child - but then again, what is typical? Andrew has a severe intellectual disability, very poor balance, no speech, very limited communication skills, epilepsy, fair hair and blue eyes, widely spaced teeth, and a predisposition for laughter (often quite infectious). He was an early smiler, has a love for water, a sticky-tape fetish and just loves trains, buses and watching family videos. He loves to cuddle - anytime, anywhere and with just about anyone. He is a delight, but as you all would know, it has been a struggle each step of the way, each day.
Andrew began his life in a manner that would foreshadow his first 5 months - he cried continuously at birth and was unable to settle. He had his first visit to a humidicrib barely an hour old. Feeding was also difficult and was a cause for concern when we were readmitted to hospital after a week at home. Andrew had a funny suck and was generally unsettled throughout the day and night mainly due to reflux. Two hour shifts through the night were the order of the day as my husband Kevin and I struggled to comfort Andrew as he continued to remain unsettled, crying much of the time. Sleep was at a premium for Andrew and for us.
Continual visits to our Paediatrician finally led to further hospitalisation after four months. Various reflux medications had not worked - Andrew continued to cry and remain unsettled, and his weight was of concern. Tests revealed severe burning and ulceration of the oesophagus. Further medication, a variety of milk formulae and other measures, while relieving the burning, only saw the reflux increase - Andrew was failing to thrive. At five months Andrew had a Fundoplication to stop the reflux. Doctors were extremely hesitant as this operation was not usually performed on children under 12 months of age. After surgery Andrew screamed for 8 hours - as it turns out, he was allergic to Pethidine. As a result of the Fundoplication Andrew has since been unable to regurgitate when sick - this has its advantages and disadvantages. After six weeks in hospital Andrew returned home - we thought our problems with Andrew were solved.
Two hourly feeds continued at home, recovery was very slow and sleep continued to be disturbed. As the months struggled on, we were concerned that Andrew did not reach, nor did he look like reaching the milestones reached by our friends children of the same age. We were thus introduced to the term Cerebral Palsy on a more personal level by our Paediatrician and we were thrown into the world of early intervention. Physiotherapy meant a variety of exercises to perform with Andrew to assist him in learning to roll, then pushing to sit, crawling, pulling to stand, standing, and learning to walk. These milestones took many years. Occupational and Speech therapy engaged us in teaching Andrew to maintain attention, to play, to communicate his needs, to drink properly, to drink from a straw - all of which we continue to develop today!
At fourteen months of age Andrew began having drop attacks. Trials of several anti-convulsant medications, further visits to his neurologist, EEG's and blood tests eventually ended in a regime of medication that now controls his epilepsy. In the interim, Andrew was not satisfied with trying out the various medications, he wanted to try out many of the various types of seizure activity as well - he has had all types of seizures throughout the years - from drop attacks, absences, absence status and on to further hospitalisation after several quite severe and prolonged seizures within a short period of time. These periods of fitting are very distressing to watch as a mother. I always feel so helpless and my protective instincts take over. Thankfully Andrew has been seizure free for three years now.
At two and a half years of age Andrew's neurologist revealed to us at a routine visit that he thought Andrew had Angelman Syndrome. Reading some literature on the way home in the car led to tears - how could our beautiful son have such a horrible disability ? Our Paediatrician later told us that early literature often documented the worst and most obvious cases - this was a hope that I clinged onto for years.
Early denial of this diagnosis led on to grieving, and then to some form of acceptance after confirmation from DNA tests - Andrew was deletion positive. I have often thought that it must be that much more difficult for parents who only have a clinical diagnosis of Angelman Syndrome. Certainty in diagnosis leaves no room for doubt or questioning - you have to accept it, deal with the realities and live each day as it comes. This was certainly easier said than done in the early days. Everything was extremely overwhelming.
Regardless of the diagnosis - Cerebral Palsy or Angelman Syndrome, the various therapies continued unchanged and uninterrupted day by day.
Before the age of four, Andrew was again in hospital for an operation to rectify his divergent squint - both eyes turned outwards. Two years of patching had not been effective, and the hope of giving Andrew three dimensional vision led us to this decision. Depth perception problems could lead to an increasing number of falls and accidents as he grew older. Being able to see with three dimensional vision would aid his mobility, balance and confidence. The patching continued for nearly a year after the operation, and we went through boxes and boxes of patches. I found them stuck on everything except his eye. Although the operation corrected his squint, Andrew still only focuses with one eye at a time.
Throughout his first six years Andrew slept extremely poorly. Sedation was an option we tried at one stage, then we tried sleep specialists (a waste of time) and then eventually resigned ourselves to the fact that overcoming this problem would be just like everything else - years of persistence and determination, long nights and early mornings. We had to be consistent with Andrew, establish routine and refuse to acknowledge defeat. With time Andrew began to sleep better and today he sleeps quite well. Parents can cope with a great many trials, but sleep deprivation is not one of them - we had to beat this one and we did.
Since these early years the various forms of therapy have continued both at school and at home. Andrew has continued to wear splints to assist with his various problems in walking, we have been persistent in continuing to develop his communication skills, his self dependency in eating, in drinking, with toileting, but progress is slow as you know all too well. Andrew now has only four signs and communicates mainly through gestures. He is learning to indicate when he needs to be toileted and he still wears nappies at night. He finger feeds but is slowly learning to use a spoon and fork.
In May of this year Andrew had major surgery on his right foot. His foot turned in at a 45 degree angle, rolled out, and he walked on his toes. Splints, serial casting and intense physiotherapy had not helped to correct the problem. It was getting worse. He had a split tendon transfer, wedge oestiotomy and his ankle broken, reset and wired. The bone graft was taken from his hip. After this operation we also found that Andrew was allergic to Morphine. We spent 10 long days in hospital - what a joy! Andrew fought sleep because he was out of his regular environment and because he was in pain. He did love to be pushed around in the wheelchair though - continuously! At present he is still in plaster and we hope that the surgery will be successful in keeping him as mobile as possible. He spent six weeks at home full time as he was unable to bear weight on his foot and the school could not guarantee his safety. This was just another trial to bear and overcome. It was very frustrating for us all including Andrew and activities to keep him occupied all day were very limited. I was physically and emotionally exhausted. We were all happy to see him back at school and he can now walk in his new plaster.
Andrew has been attending a school for disabled children since he was four. Three years ago we were given the opportunity to send him to a Monday to Friday boarding school run by Anglicare (a church organisation). This decision was not made lightly. Feelings of guilt returned, and I feared that he would not be cared for adequately. I missed him terribly and worried about him constantly. But he is very happy in his school and hostel environment and spends most afternoons going out and being presented with experiences and activities that we can not provide him at home. His life skills have improved and I have the opportunity to take my girls to their after school activities such as dancing and piano lessons. Andrew is home every weekend and for school holidays, and we all enjoy that time so much more.
Having any child with a disability must have a significant impact on any family. The years of therapy, of sleepless nights, of worry, frustration, of blaming yourself for the disability, and then there are the effects on the siblings with having to cope with the disability also. Despite all this Andrew is a very special child. He gives great cuddles and has a very infectious laugh. When Andrew laughs, everyone laughs. He has opened our eyes to the world of disability. Having Andrew has made our family more tolerant and compassionate. I believe my girls will grow up to be very special people because of Andrew's disability.
When I look back, I believe that there are just so many special moments. Parents like us appreciate so much more the small milestones that our children reach. We never miss our child's first step - because there are hundreds of first steps before they are able to take their second. Each small step in our child's development is so much more satisfying because we have fought so hard to achieve them. There are many other moments - seeing people walking past smiling because Andrew has been smiling or waving at them; people commenting on what beautiful blue eyes he has; seeing the joy that Andrew has when he is swimming, or when his grandfather gives him a chocolate, or when we get a cheese slice out of the fridge for him. The littlest thing is a joy to him - and it becomes contagious.
Each day is full of a great number of challenges and struggles - this is true. However, if we look at things from a different perspective (which in the midst of these struggles is quite difficult), there are many precious joyful memories to be had as well.
Having Andrew has opened up a whole new world. He is the reason why I and indeed we are here today. I have had the pleasure of meeting so many wonderful people that I would never have met if it were not for Andrew. Not the least of these encounters has been the opportunity and honour of meeting and knowing Audrey Angelman - she was a very special person.
Raising a child with Angelman Syndrome is difficult, but brings with it a myriad of opportunities, experiences and joy that many do not have. The resulting disparity between the emotional highs and lows in our lives as parents of Angelman Syndrome children may be greater than others experience, but in every case we need to respond as positively as possible. The daily challenges and struggles can lead to satisfaction and joyful celebration, as we have the opportunity to become more caring and compassionate people. Caring for and assisting our Angelman child to grow and develop can lead us to do the same for ourselves and our family in a very unique way. But what is even a greater gift is the opportunity to care for and assist other children, parents and families in a similar situation.
I believe that we all have a responsibility to share what we can of Angelman Syndrome with others. There are many ways in which we might be able to do this - we might write an article and share our own story of Angelman Syndrome; we could raise public awareness by approaching the media to do a feature article on our son or daughter; we could join a support group; we could become actively involved in helping new families come to terms with a recent diagnosis of Angelman Syndrome; we could let our children become involved in Paediatric exam sessions for new doctors and Paediatricians; we could speak to student doctors on a parents perspective of living with a child with a disability; we could help to raise funds for research; we could help our friends to become more informed about Angelman Syndrome, and disabilities in general - the list is endless. There is a way for all of us to participate more actively and positively.
I was privileged to be involved in the formation of our Association in Australia. Three sets of parents and two doctors had a vision of a support group which would offer support to others, provide information on Angelman Syndrome for new families and for the medical profession, to promote the cause of research and which would act in an advocacy role. Our first meeting consisted of 14 families and our first conference of over 100 people. From humble beginnings seven years ago we have grown as a national group with members from all corners of Australia. We now hold a National Conference every two years, providing childcare for the children of those families that are able to attend. These conferences are always a success - they are made so by the families who attend, who share their experiences and share of themselves. There is no secret recipe for forming or running an association however - there is just hard work, persistence, a group of people who are willing to work hard and work together, goodwill, acceptance, and the understanding that we will all make mistakes in this role. But unless we have the structures that an organisation or association provides, and the support from its members and office bearers, then the good work that can otherwise be done often abates - we need an organisation that will survive the work of just a few motivated people.
As President I now spend a great deal of time now answering letters or talking to new Mums on the phone. I also talk to various groups, to medical students and service clubs, generally educating others about AS, and in assisting in the organisation of our conferences and seminar days. I thrive on this although it can become very overwhelming at times. I often ask myself why do I spend so much time in this way - often it is very draining. I think it is because I believe that if we are presented with the opportunity and the ability to help others, then we almost have a responsibility to do so.
Now, I have been painting quite a positive picture of life with an Angelman child. And as you may be able to see from the slides, Andrew is usually a very happy child. However, please do not let me leave you with the impression that life with any Angelman child is easy - it is a struggle each day. Even though Andrew sleeps quite well now at night, each day presents us with constant supervision, with being creative in providing a variety of activities to keep him entertained, working on the development of his skills in all areas, ensuring that his environment is as safe as possible, feeding and toileting, and the list continues. Often there is no letting up, and thus there are times that we, I, need a release. Thank heavens for respite. Respite is the time we need for regaining our energies, for rest and relaxation that sometimes is hard to come by, for spending quality time with your other children.
Andrew's story is not unique. We are all in many ways in a similar position. The life stories of our children contain many similarities. What will and does bond us together is our support of each other - on a local level, national levels, and now on the international stage.
|
|
