David Watson - UK
In the beginning
I would like to introduce you to my son David, who has Ring Chromosome 20 syndrome. I am Allison, David's mum; his father is also a David, (although we call him Dave). David has an older sister, Jessica (17). We live in Brentwood, Essex (UK).
David is now 10 ½ years old. He is not the tallest in his class at school, but then neither are we, his parents, particularly tall! David has short, dark blonde hair and blue eyes and is of average weight. He recently had surgery on his ears, (bilateral otoplasty), although not too bad, his ears were slightly prominent (one of the reasons our consultant suggested a cytogenetic blood test, from which we received the r(20) diagnosis).
Always a lively boy, David likes to get involved and try out different things, especially sports. David regularly partakes in his local football club, karate, basketball and scouts, although his medication does tend to make him rather tired, particularly after exercise. David is a very affectionate and loving son, who still enjoys a cuddle. He has lots of friends, both in and out of school, most of whom are extremely caring of David and his epilepsy and who look out for him in the playground.
Before David was diagnosed with epilepsy (up to the age of about 6), we always described him as 'hyperactive'. He could not sit still and was always doing something, often quite mischievously! If he ran, he ran fast. We wondered where he got his energy from, as he often ate very little - being too busy to sit still and eat his dinner!
David currently attends a mainstream primary school. He has had a full statement (21 ½ hours support per week) for the past 18 months, as he is about 2 years behind his peers, educationally. David struggles with concentration and maintaining focus due to his seizures, as well as requiring support for PE and swimming etc. His favourite subject is maths or Numeracy, however he really struggles with handwriting and uses an Alphasmart NEO (portable computer companion - similar to a laptop) in class for which he is learning to touch-type, to attempt to overcome this barrier. Now that he is in Year 6 he looking forward to secondary school next September.
David's family life is now very much the same as that of any other typical 10 year old boy. The age gap between him and his older sister means that whilst they are close, they do annoy one another sometimes and they do have very different hobbies and interests.
David's initial diagnosis of epilepsy did and continues, to affect the whole family. It has been like a rollercoaster ride over the past 4 years. Initially we were shocked to find out that David had epilepsy and realised we knew so little about the condition. We had to follow our instincts when we were offered the chance to put David on medication, for initially what was thought to be 'absence' seizures. Six months later the bottom fell out of our world, when David's sporadic 'absences' became almost hourly complex partial seizures overnight - he was approaching 7 at this stage.
David missed half a school year and for some of the latter period before he returned to school, we were offered a private tutor for 1 hour a day. I was also lucky to receive some respite support 2 hours a week for about 6 weeks, which gave me some much needed time on my own. When David initially returned to school, it was on a part-time basis and I was asked to attend on certain occasions when the school was unable to provide support for him.
My husband and I both had to take time off work, together for the first 3 months and myself for a total of 7 months, to care for David. Our family and friends were particularly supportive during this period - it's a time when you realise who your real friends are! As a consequence, David was the focus of our attentions during this time and everyone around us. This was a difficult time for his sister, Jessica, who had to try to carry on as normal - she was only 13 at the time.
As someone who likes to understand what they are dealing with, I searched for information and answers as to why this was happening to my son, what best I could do for him and where best I could receive help. Local organisations were a great support during these initial months and met up with other mum's whose children had epilepsy - we still maintain regular contact. I was able to gain a much greater understanding of epilepsy and what it meant, albeit that David was certainly not a stereotypical case, which confused some and caused them to question his diagnosis. The internet was also a valuable resource to be tapped into - but could be disconcerting at times.
David's behaviour, although never perfect, began to become a worry and so we were referred to a Child Psychologist. I received guidance from them for approximately 6 months.
As there was no apparent explanation for David's epilepsy and the fact that whilst he had responded fairly well to medication, his epilepsy was not fully controlled, we were offered a set of tests to explore whether he was a candidate for brain surgery. He actually was at one of his better periods at this stage and we were discharged early, as David was only displaying sub-clinical seizures.
At the age of 8, on one of our regular visits, our paediatrician noticed David had a slightly small head and prominent ears. David was offered a cytogenetic blood test and the result shocked everyone; physicians and us alike. The diagnosis of r(20) was unexpected and for most of us, unheard of. Dave, Jessica and I were then all tested, but our results came back negative. David was referred to a geneticist who explained more about the syndrome or what little is known. By this time we had already found the r(20) Foundation website for ourselves and had contacted them and some of the other families affected by the condition. What we heard from most sources was unsettling and it appeared that most other children that we made contact with were more significantly affected, particularly physically by the condition, than David. No-one seemed able to give us a prognosis for our child and what the future held.
David knows he has epilepsy and is beginning to realise what this means. He knows he has seizures, although he will deny when he has had one and understands his medication slows him down, physically and mentally and makes him tired. He has limited understanding of r(20), but then I think that the concept of genes and chromosomes must be difficult for a 10 year old to comprehend.
David has tried a number of medications, over the past 4 years. Initially, when he was thought to have just absence type seizures he was put on Ethosuxamide. When he experienced a sudden onset of regular complex partial seizures (hourly) his medication was changed to Carbamezapine.
This did not appear to have any effect alone, so Sodium Valproate - Epilim was added. Epilim clearly did not agree with David and his behaviour became like that of a 'child possessed'! He also had the appetite of a horse, and would eat anything, from crusts on his bread to wires on his Playstation game - which became a danger and a worry.
Clobazam was added as a third drug for a weekend, but this had no effect at all so was only retried once more, before being withdrawn! Knowing that it was a Valium derivative, I would have liked to have taken this myself at the time!
David's seizures were continually increasing in frequency and duration during this time, worse at night. David would shout out â€œC'mon, C'monâ€¦â€ and other words out of context. He would appear to hallucinate, as if there was some really scary monster in the room. He would often 'bolt' to the door, and would usually grab the nearest person next to him and grip on tight. The seizures were always worse at night and spookily, they occurred at exactly the same minutes past the hour, each hour.
The turn around came when a dose of steroids (40mg of Prednisolone per day) were added for a course of 6 weeks. At the same time Topiramate was added and the Epilim was gradually weaned off. Because David had been experiencing cluster seizures, we were also instructed in the administration of Diazepam or Midazolam, for emergency use.
The cocktail of drugs worked and we are convinced that steroids made the difference. From the moment David started taking these, his seizures decreased in frequency by half each week and their duration and intensity waned off. It took a further 8 weeks to wean David off of the steroids, by which time his seizures typically presented like prolonged absences and only occurred a few times per week.
The improvement to seizures deteriorated after a while and the Topiramate was increased, but no significant improvement was established.
We were the lucky enough for David to be able to take part in a worldwide study investigating the effectiveness of VNS in children. David qualified for the program and luckily, was randomly selected to receive a VNS within a very short period of time. David had his VNS fitted at the end of November 2005 and this has resulted in quite an improvement in his seizures, whilst his medication has remained unchanged during the last 2 years.
We have recently commenced a program to reduce David's dosage of Topiramate, with a view to him being on a single AED, together with his VNS. It will take us some 4 months to see whether this gamble pays off...
Over the course of the last few years, I have found that the best way to deal with David's condition is to find the facts, dispel any myths and continuously search and ask for information, help and advice. Being best informed, I believe empowers you to act in your child's best interests. Having said that, the internet can be a double-edged sword; both useful and dangerous - it's also a mountain of information that can eat up your valuable time!
I've always questioned David's physicians and never been afraid to pick up the phone to ask for advice. If you're not happy with the way your child is responding, demand an earlier appointment, or a change in approach! If I've not had a response in a timely manner I have continuously chased - physicians are always busy, but if you are not (metaphorically) shouting loudly, then you can bet that another parent is!
Local support services have been invaluable in terms of impartial data provision and help and support with regards negotiating 'obstacles' such as claiming DLA (Disability Living Allowance) and securing a Statement of Educational Support (a 9 month battle that caused me to nearly have breakdown).
Most valuable of all has been the support of friends, whose children also have epilepsy. Unfortunately, children in the UK with r(20) are quite widely spread around the country so it would not be so easy to initiate and maintain regular contact with other families, although I'd welcome the opportunity to do so, if it was possible in the future.
What do I wish for David?
To be a happy and caring person, who is given the opportunity to fulfil his potential at school, to enable him to go on to live securely and independently as an adult.
And what do I wish for regarding r(20) syndrome?
...that facts and research opportunities present themselves (given support and funding), such that any/or all of the below become possible for future generations (and our children):
- Early diagnosis
- Recognition and awareness within the medical world
- Recommendations for most appropriate treatment of symptoms (drugs, diet, VNS etc..?)
- Prognosis for the future of r(20) syndrome patients
- Support network
To any other parents out there, or others with the condition themselves, we extend you our best wishes for the future - whatever that holds...