Over the last few months I’ve had a couple of friends tell me about the horrible experiences they’ve had when seeking medical help for their disabled kids. It’s got me thinking about some of our experiences in the past with G.
I’ve never really been a big fan of the medical profession. Okay, so that’s a pretty sweeping statement to make, so let me clarify….
We’ve had some excellent GP’s who have been very supportive. Every Paramedic I’ve ever met has been fantastic. A couple of school nurses and the occasional therapist were also supportive and understanding. G’s Orthotist, or Dr. Splint, as O, my youngest nicknamed him when she was five, was amazing, one of the best (turned out he had a disabled Nephew a couple of years older than G). I have yet, however, to meet one Consultant or Registrar who didn’t see G as purely a medical condition or a syndrome. It seems that the further you go up the professional ladder the more this attitude seems to prevail.
Thankfully we don’t have much to do with them any more, at least no more than anyone else does. G’s generally a healthy chap, with no complex medical needs requiring their intervention.
The initial diagnosis was the first in a long line of episodes and I still find it hard to accept that there isn’t a kinder way to tell parents their child is disabled. I’d like to think that I just disliked him at the time because he gave me the news I didn’t want to hear. On reflection though, he ought to have known better and he should have made it a fundamental part of his job to impart this kind of life changing news in the most sensitive and positive way possible. It was obviously just day at work for him, but it gave me months, even years of grief. I’ll remember it forever but, I imagine he would have forgotten it by the time the next patient turned up.
There have been many other occasions when the lack of understanding has caused unnecessary grief and aggravation that could have been avoided with a little more thought and a little more understanding about the human being behind the label.
When he was younger G developed epilepsy. It’s one of the symptoms associated with Angelman syndrome (as it seems to be with lots of chromosome disorders) and 80% of those with the condition are affected with it. G’s epilepsy was never given as a definite diagnosis and this is because people with this particular “bit missing” have an unusual brain wave pattern which shows up as unexplained spikes and waves when EEG’s are done. Apparently this was used to diagnose the condition back in the day before chromosome/genetic testing was available.
G had a couple of EEG’s when he was very young but it’s hard to know how much information was gleaned because the test is meant to be done when the person is asleep and this was never an option for him. Just getting him to keep the electrodes on his head was difficult enough as this was a kid who wouldn’t even wear a hat (still won’t) and found it impossible to stay still for more than a nanosecond.
G only ever had seizures that were associated with high temperatures or when he was in pain and they were very infrequent to begin with. When he was just over two years old they started to occur more regularly so I decided to visit the Consultant to get some advice.
It was a boiling hot day at the beginning of July. I was very heavily pregnant with G’s baby sister (with just two weeks to D day!). By now G was like a little “whirling dervish’, he couldn’t walk but could crawl a super fast speed. When I’d first got pregnant he could hardly move at all but now he rarely stopped. It was like someone had put new batteries in and flicked on a switch! He also never slept at night which didn’t help and I found getting through each day hard enough without appointments like this.
G loved hospital waiting rooms though, lots of people to see and meet and greet. Lots of kids to watch and babies to catapult out of car seats or rockers (he’d got very good at cause and effect!) but, it was not my favourite place and after two hours of waiting, mostly spent chasing him around the large, airless, crowded waiting room (with far too many babies), I’d had quite enough.
Finally our names were called and I scooped up G and lumbered into the consulting room. To my dismay I was greeted by another doctor not the Mr. H I was expecting to see.
“Oh!” I said “I was expecting to see Mr H, I made an appointment to see him because there was something I wanted to specifically discuss with HIM.”
“No” he replied “you made an appointment with his clinic not him, now let me just ask you a few questions”
…. Here we go I thought, same old bloody questions… What was the birth like? What did he weigh? What does he weigh now? (Never understood why that had to be asked at every single appointment, what is it with the weighing malarkey?)
“Do you know anything about Angelman syndrome” I asked him.
“Oh yes” came his reply. Then continued to ask me….”how many words is saying and is he speaking in sentences?
Now… one of the main symptoms of this condition is that those affected never speak and with this in mind I was pretty peed off! I stood up, scooped G up again…
“You clearly don’t have the first idea about this condition or you wouldn’t have asked me such a stupid question, now I want to see Mr H and I want to see him NOW!” I screeched, like a demented fishwife (or rather an exhausted, heavily pregnant woman who had spent two hours in a hot hospital waiting room with a child who was beginning to bear a distinct resemblance to the Roadrunner on acid)
I stormed out of the consulting room – now believe me it’s difficult “storming” when you are 38 weeks pregnant and carrying a large, wriggly two year old, but I did and it seemed to have the desired effect as ten minutes later we were called back in. There at his desk was the Consultant, apologising profusely and urging me to sit down (probably more to do with the fact he was worried I may go into labour there and then, which after all was a distinct possibility, given the state I was in!)
The upshot of this consultation was G was to be put on medication for his epilepsy.
I’d done my research and knew that for kids with this condition one particular drug worked best, so mentioned this to him. This was dismissed straight away…
“No, we’ll try this one first it will work just as well”.
Bowing to his expertise and too exhausted to argue I left, feeling very frustrated and not convinced we’d made the right decision….G on the other hand was full of beans having had a lovely time.
G was never right on this drug. When I look back at some of the pictures of him he looked decidedly pale and drawn most of the time and had lost his sparkle. With a new baby and another child aged only four maybe I can be forgiven for not noticing too much at the time, I was focussing on survival. G’s sleep pattern, which was already pretty dire got even worse and just two hours a night had become a regular occurrence. His seizures eventually became more frequent and varied in type from absences to full blown tonic clonic fits.
As he grew the dose was increased, as the dose was increased the more he fitted. We became used to his seizures and experts in administering rectal Valium. We were becoming regular visitors to A & E when they wouldn’t stop. I never got used to them though and this was part of the condition I found the most upsetting.
A year later, after being a regular visitor and when he started to have up to ten seizures a day I went again to see the Paediatrician. We’d moved to Oxfordshire by now and this chap was another medical expert who always knew best and whose answer was to constantly up the dose of anticonvulsant each time we visited.
G was by now drugged up to the eyeballs. At just three and a half he was on 17.5 mls of Tegratol (Carbamazepine) twice a day. If he wasn’t having a seizure he was sleeping them off. My lively, happy child had disappeared and a dopey, sickly looking boy had taken his place.
I told him I wanted to try G on Epilim (Sodium Valporate), the first drug we’d suggested. He’d been on this one for a while now and it clearly wasn’t working. I’d read more about the success of managing seizures with this drug in others with the same condition and wanted to give it a try.
“We’ll he said, “I think we should try him on another drug as well as the one he’s on, you should be aware that children with Angelman syndrome often have seizures that are difficult to manage and usually require a cocktail of drugs to manage them”
I didn’t want G on a cocktail of drugs and he’d only ever tried one, so pleaded with him to at least try Epilim first before we added another one. Reluctantly he eventually agreed.
G’s seizures started to decrease almost instantly the old medication was out of his system. The increase in seizures over the last year were all put down to his syndrome and not the fact that the Mr H may have prescribed the wrong drug in the first place and the second Consultant was making it worse by increasing the dose of a drug that clearly had adverse side affects for my son.
When he was eight, having been completely fit free for over three years I asked if we could start weaning him off the Epilim altogether. Apart from what I was convinced was a reaction to the first drug, G had only ever had febrile type convulsions which can be common in young kids and which they often grew out of. He disagreed.
“G had Angelman syndrome, he wasn’t like other children” he told me (no shit Sherlock!) and then went on to say “if it aint broke, don’t fix it”
I was so angry by this response, “This is my son” I said to him,” he’s not an “it” and I’d really like to try to wean him off. I’m no health freak and not anti drugs at all, but I really don’t want him taking something he may no longer need”
After some persuasion he again reluctantly agreed and told me how to go about reducing the dosage very slowly and urged me to keep in touch. After we’d reduced the dosage by over half G got the Flu, knowing that a high temperature could spark a seizure I kept him on that dose. We’d already seen some benefits, G seemed more alert, better able to concentrate and his sleeping had started to improve a little (sleeping right through to 3am occasionally)
Eventually after another two years at the age of ten, with no fits and no need to increase the dosage due to weight gain I decided I would try again to take him off the drug altogether. I didn’t bother to go and see the Paediatrician. I followed all his previous advice and told everyone who supported G what I was doing, including the school nurse and our GP.
G is now twenty two, and from that day to this he never had another seizure.
Now, I’ve never claimed to be an expert on epilepsy or anything else medical, but I do claim to be pretty expert when it comes to my son. I really don’t recommend that others do the same, I’d never do that because our kids are all individuals. I went with my instincts about my own child and happened to be right this time.
When the condition is relatively rare it’s easy to believe everything you’re told and follow every piece of advice dished out by the so called experts… but are they really the experts?
My point is that these people sometimes get it wrong. They don’t always know best. Not everything about G should be put down to his syndrome and it’s dangerous to assume that it always is because other things could be missed.
When we first moved to Oxfordshire my lovely GP here said
“I have to say I really don’t know anything about Angelman Syndrome Gail, I expect you to guide me as you’ll know much more than I do”
He was a breath of fresh air!
He trusted me and I trusted him because of it. He listened to me and he advised, discussing all options and any treatments and their consequences. I later learned he had a sister with learning disabilities, but his attitude was spot on. It was one of mutual respect and partnership, each bowing to the others expertise and building trust. As parents of disabled children that’s all we really ask for!