Ben’s Story

Ben was born in March 2007 at our flat in London, a planned and successful home-birth. I’d like to say he was a wonderful baby but as his older brother, Freddie, was only 19 months when he was born, Ben’s early months are all a bit of a blur! However, he hit all developmental milestones, walking when he was 10 months and talking early. All wonderfully normal…
… until he had two febrile convulsions age 12 months and 18 months, followed by an a febrile convulsion aged 24 months. Between the age of 2-2.5yrs old, I suspected something wasn’t quite right, though it was only a very vague intuition (in hindsight he was probably having small “absence seizures”), but I had got as far as getting a referral to the neurology team at our local hospital.

Then October half-term 2009, aged 2.5, his seizures started in earnest: it started with an ear infection, temperature, then a noticeable absence seizure (where he just switched off for 5 seconds or so) – then daily astatic seizures started that we called “head-drops”. These last less than a second and come out of the blue – his head will just suddenly drop straight down (if he’s at a table, he’ll normally bang his head on it) and sometimes his arms will fly out too and it may be accompanied by a sound, often a grunt or exhalation of air. They normally happen individually, though he does sometimes have clusters of 2-3 at a time.

Straight away after the seizure he was normally fine, though sometimes a bit tired / disorientated. He’s unaware of what happens during the seizures. There is no particular trigger, though some suspects are lack of food, tiredness, high states of emotion (crying, giggling, excitement etc). From October 2009 – January 2010, we were recording on average 5/6 of these a day.

Those first few weeks were awful and, in hindsight, I’m so cross that we waited for the appointment that I already had scheduled for the end of November before the head drops started. Not knowing what we were dealing with and being in limbo between our family doctor and a referral to the hospital neurology department, we stuck it out on our own for far too long.

Ben is treated at St George’s Hospital, London, and the care there under Dr Antonia Clarke has been excellent. An initial EEG showed no activity, but in January 2010 (on the due-date of our 3rd child, Lucy), a second sleep-deprived EEG confirmed epilepsy. We started him on Sodium Valproate (unbeknownst to our neurology team, the hospital dispensed to us a non-brand called “orlept”) at a low dosage and immediately saw some improvement in the reduction in his seizures. At this stage, we also sought a 2nd opinion via our private medical insurance, which was very reassuring, telling us that they agreed with the treatment/diagnosis to date and that the team at St George’s were well regarded.
Unfortunately, our first repeat prescription from our family doctor/local chemist for the sodium valproate gave us a different brand, Epilim. I checked the ingredients/drug component and was reassured that there was no difference, so changed Ben from one to the other and there was a slight increase in his seizures again. I was unaware at this stage what a bad idea it is to switch brands of epilepsy medication.

So as the seizures increased we started increasing the dosage of Epilim, which seemed to help but also started making him unacceptably tired (and we also regressed with toilet training, a year after he’d successfully been potty-trained), so March/April 2010 time, having positive thoughts about our early experience with Orlept at a lower dose and a consultation with a different doctor in Dr Clarke’s absence, we changed brands overnight back to the Orlept and also reduced the dosage by 25%. This sent Ben into the worst few days we’ve experienced to date, with clusters of head drops and new myoclonic seizures (little jerks of arms, fluttering of eyelids/eyelashes), that numbered too many to count.
Luckily we had an appointment booked with Dr Clarke the following week who could see the state he was in and put in place a new plan. We started Ben on a small dose of clobazam twice a day, for a 5 day course, as a rescue drug to get him out of his current state and also to bridge over the initial stages of a change in his daily medication: we started weaning the Orlept and started introducing and increasing a twice daily dose of Ethosuximide (Zarontin).

At this stage we were given the probable diagnosis of MAE or Doose Syndrome. Having gone through various hideous and ill-advised internet searches, both at the time of his initial seizure onset and the confirmation of his epilepsy, I found this diagnosis both reassuring and petrifying. The best thing about it was that it lead me to the Doose Syndrome yahoo e-mail group, who ever since have been a constant source of information, support, humour, humanity – and provide a much needed security blanket and a place to go with all the questions/feelings that this diagnosis brings with it.

Well at the time we referred to clobazam as a miracle drug. It immediately snapped Ben out of the state he was in and for the whole 5 days he was on clobazam he had no seizures. I’m glad I didn’t know then what I’ve learnt (from the e-mail group!) about the Benzo drugs, but it really did work well for Ben and we didn’t seem to have too much of a fall-out when we stopped it. A few head-drops crept back in but as we withdrew the Orlept and increased the Ethosuximide we got pretty good control.

This all happened a week before he was due to start nursery school – and amazingly, with only a week’s delay, he was able to start nursery, though we did have to reinstate his post-lunch nap on a daily basis (that had crept back in anyway when we were having tiredness issues on the Epilim).

There was a gradual improvement and, bar a couple of suspected illness-related head-drops, he has remained seizure free during the day since September 2010.

However, during a family holiday in August we then discovered that he was still having seizures during sleep. A further sleep-deprived EEG confirmed that the various head-jerks and small finger/arm/leg jerks that we were witnessing whilst he slept, were all seizures. From September 2010 through to June 2011 we slowly increased his dosage of Ethosuximide to try to stop these sleep-time seizures but to no avail. And the increased dose of Ethosuximide has only served to make Ben more tired during the day.

So we scheduled a 24 hour EEG for June 2011 – in some ways I wish we’d pushed for this sooner, as it turns out that whilst the day showed a normal EEG (hurray!), the night was very abnormal, including some ?non-convulsive status events (runs of continuous seizure activity with no outward physical presentation). However, as Ben has managed to do well at nursery and has thankfully always been on track, if slightly ahead, developmentally (other than the periods when tiredness/seizures didn’t allow), we didn’t want to push things too much.

I have always appreciated our team focusing on treating Ben rather than treating his EEG. However, the abnormal nature of the sleep EEG lead to us reintroducing clobazam on a night-time only basis to see if that could help give him extra protection at night. Currently we have no side-effects of this introduction, other than increased tiredness levels again, but it’s very difficult to judge how successful it’s been as we cannot monitor the night-time seizures effectively.

Overall, we think he’s a bright, energetic, empathetic, articulate and entertaining 4 year old, and we are very lucky in that we currently have no major concerns about his development or ability to join in, apply himself and do well at everything that life has to offer him (he started Reception in September!).
He is able to learn new information, retain huge amounts of knowledge (as his cricket obsession over the summer holiday has proved!) and has been learning to read at home with some enthusiasm.

Emotionally he can be a bit up and down, as can his energy levels: tiredness is still a major issue. Whether this is caused by disturbed night’s sleep due to seizures and/or the side-effect of his two medications - or just being a 4 year old and all that that entails - is very difficult to tell!

But he has a wonderful, charismatic personality and we remain optimistic that he will grow out of his night-time seizures over the next couple of years and we’ll be able to start weaning his medications in a few years’ time. In the meantime we keep a close eye on him during the day, keep tinkering with the medications to try to resolve the night-time seizures and keep our fingers’ crossed!

Anne-Marie Grimwade
London, UK