Part 1: Spring 2015. Relocation and storm

Spring is always written and sung about as a time of change, renewal, cleansing. People sand back wood to its grain, prepare an undercoat, mix colours. Or clean up a home, pull out the weeds, start a diet.. This Spring, the changes were darker and scarier, sweeping us up at the end of September..

Seizures and polymicrogyria

We had an uneventful pregnancy, apart from finding out late, as we were driving down the coast, relocating from subtropical climes of Townsville to the bustling temperate city of Melbourne. There were some signs. Heather was unusually tired, taking many afternoon naps, and often nauseous. We were around halfway on our journey, stopped at Port Macquarie, when a thunderstorm burst over the harbour, enlivening the night... we strolled out of our caravan towards the famous graffitioed breakwall and watched the brilliance of nature at play. That night we found out; in hindsight, an appropriate metaphor for the storms ahead.

It was a big surprise, but a happy one. Heralding a slight change of plans perhaps, some lessening of travel. But we were already on our way to settle down in Melbourne. To be with my Dad especially as he neared his 90s, also my Mum. To give them a hand, have some nice times with them, be a more nurturing son than I had been in the past.

The pregnancy and Jai’s birth were mostly uneventful. A planned C-section due to Heather having had one in the past. A day before the appointed day in June, the contractions began. A few hours later, a pink baby arrived, crying.... a fair bit quieter than his sister had been, but we were grateful for this. He fed and slept well, far better than Uma had. The first 4 months likewise, all went as if planned.

Then Heather started to notice that Jai was unusually twitchy. And I noticed a strange cough at night, half whoop, half like clearing his throat. Then the twitches got frequent enough for us to visit a GP and ask for a referral. He noticed nothing to concern him and Jai’s examination was normal, but he gave us the referral anyway (our medical backgrounds coming in useful). The next day, Jai had an unprovoked seizure. Not a full blown Grand Mal seizure, but, to us, recognizably a seizure. And no fever, no choking, no turning pale, none of those things which would lead us to believe there was some mitigating precipitant.

Next day we were in the Emergency Department of the Royal Children’s Hospital, seen quickly and admitted. And within 2 days, Jai had had both a 24 hour EEG and an MRI (two actually, since he moved a little in the first). And we had a diagnosis, one with frightening consequences: bilateral perisylvian polymicrogyria. So two big shocks to absorb in that first 5 day admission to RCH. A strangely surreal experience for us, as we took the lift up and down to the Neurology ward, wandered the beautiful wide modern corridors of “the Children’s”, with it’s expanses of space and play areas inside and out, modern shops and artwork, smiling service. The famous indoor fishtank in Emergency. And tried to come to terms with our new life, with its new doorways and paths. How strange this hospital would seem to people from poorer countries. But what a blessing for chronically sick kids in particular, to take their minds away from their troubles for a while. We spent some time in the amazing playground at Royal Park. In the warm sun, Jai’s 4 year old sister Uma played chasey and hide and seek with me, and climbed on the rope bridges and webs. Then found an indoor playground with a sandpit and some old tonkas to keep her occupied whenever we took breaks from the ward. We ran into an old friend at the playground, now a Paediatric Fellow, and one person definitely adept at looking past difficulties to find the bright core of things. Something I need to become able to do.

We were relieved to be able to go home. And on just one antiepileptic without too many side effects, keppra. After going home, I read a bit about polymicrogyria, joined the Oliver Sacks foundation, found another of his books at a favourite second hand bookstore, and joined a couple of blogs. A few tears, some cautious optimism, some good and bad news from my reading.

Polymicrogyria refers to the multiple folding of parts of the cerebral cortex at an early embryological stage. These areas are multipli-folded, so that their connections are abnormal, leading to an inability to perform the functions they are made for. In some cases abnormal foci create electrical discharges, partial seizures, which can spread to the entire brain, generalized seizures. The prognosis of polymicrogyria is very variable… ranging from mild deficits, up to severe cognitive impairment, global developmental delays, intractable seizures.

But Jai’s was asymmetrical, so maybe that means the unaffected parts of the brain on one side can cover for the affected parts on the other side. I’ve read some of the amazing tales by that wonderful writer and neurologist, the recently departed Oliver Sacks. About people who overcome deficits in one part of the brain in ways that make them extraordinary in other ways. What about the fact that Jai was developmentally normal at diagnosis? And that, although the eeg confirmed definite seizures, the interictal eeg looked pretty normal, a very good thing! And that Jai was and is a happy baby, smiling from 3 months old and ready to charm friends and strangers alike. Some bright spots amongst the clouds.

Why Jai? I’m not going to invoke the dream of moral justice in the world; I have never observed that karma operates to reward good people and punish bad... But medically, why? His chromosomal analysis revealed nothing unusual, nor testing for infections in pregnancy such as cytomegalovirus. Professor L asked whether this was a twin pregnancy. Yes – when the pregnancy was discovered, there was a second yolk sac found with the second twin apparently failing to develop from an early age. He told us that this can be the cause for reasons not understood. When Jai started having his seizures, I imagined him being beckoned by his absent sibling, helplessly following to an unknown world.

How to describe what this last 6-7 weeks have been like for me…? Imagine we’re back in the middle ages and I run a country inn, somewhat removed from the bustle of town. There are frequent visitors. Some appear dark and furtive, but sit at my table offering goodwill. Others come brazen and smiling, but hide daggers and vials of poison…

Part 2: Our new world

Practical things needed to be done. I needed to let my boss at work know, so that he wouldn’t be caught short if I need to take time off unexpectedly. We needed to tell a few people. To create a support network for Uma, so that if Jai goes to hospital, people were ready to step in for Uma, our wonderfully fiery and emotional 4 year old. Luckily we have some wonderfully supportive friends here in Melbourne and a group of 4 families living close by said yes, they’d take over Uma if we needed it, look after her, cocoon her in their families. I strongly felt and feel that we should try to prevent the sadness from seeping too much into Uma’s life. She should be able to be a little girl with joys and hopes and a world of possibilities, even if her brother’s are to be restricted in ways that she doesn’t yet understand. We had already set up our lives to enable me to spend a lot of time playing with Uma, to prevent her feeling left out by the arrival of her baby brother. Fridays in particular are kept free to take her to the museum or favourite playgrounds, trips on the tram or bike carriage. So we just kept this going, and are gradually finding some friends she can play with outside childcare. We have few friends with children her age, having recently moved from Townsville. But she is happy at childcare, where she goes 3 days a week and where has her own, ever evolving pack of friends.

My Mum and Dad reacted with different shades of denial. No he couldn’t have epilepsy, there’s no one in the family with it. He looks so normal. Look he’s smiling! And this is after being told only about the epilepsy. My Mum wasn’t then and still isn’t ready to hear about any brain development problem, though she accepts that he has had a few seizures. She plans to take us to the temple so that the priest can bless and cure Jai. My Dad was in similar denial at the start, but after a couple of weeks asked me what the MRI showed, and luckily didn’t break down in tears. I’m pretty sure he will have a cure for us by Christmas. Meanwhile, Jai’s maternal grandma is organizing prayers for him in Borneo, but is also ready to come over and help in more secular ways.

One thing I’ve discovered is that men and women react to grief in different ways, at least amongst my friends. Of the friends I’ve told the whole grim truth to, nearly all the women listened, ready to hear and understand and support. Men who wanted to hear were rarer, even if they all offered to take me for beers. Is it a just a cliché, or do men really need things which can be fixed with hammer and nail? How would I have reacted? In any case, it’s alright. I need people who I can escape with, at work especially, where I’ve told few, and made a zone where I try not to think about my worries with Jai. I have many friends who I can have a drink or some lunch or play some cards with. And I do have a few precious friends who I can talk with on a different level, if I need to. But that’s for later.. right now life’s about getting through these few weeks, and it has been an exhausting few weeks so far.

Part 3: Moving backwards and forwards

Seizures or spasms?

Jai’s fits progressed after going home. He started with partial seizures with brief periods of reduced awareness and eyes deviating to the right, then a few jerky movements of the arms. He would have a few of these a day, but then developed runs of spasms of the trunk which would follow, coming every 20-30 seconds and lasting up to several minutes. These would upset him afterwards, and make him sleepy. The seizures came more and more often, seeming to be sometimes provoked (hot days, bright lights, getting upset), but sometimes not. They increased gradually in frequency, and the spasms which followed increased in number. We tried a second antiepileptic, oxcarbazepine which worked partially. Jai had a second eeg which was okay, then a third which wasn’t as good, and despite being still smiling and happy between episodes, Prof. L decided we should treat the spasms as infantile spasms, a worrisome diagnosis because of it’s link with encephalopathy. (Beware any medical word with more than 5 syllables eg polymicrogyria, or encephalopathy!) In Australia, this means starting high dose prednisolone, with vigabatrin being the alternative (In US, injectable ACTH is used instead of prednisolone). Prednisolone has significant adverse effects, causing hyperalertness and insomnia, gastric pain, increased appetite, weight gain, and general grumpiness. But it is the most effective treatment we have to prevent or reduce encephalopathy, which can stop or reverse development. The first 2-3 years is a vital phase for development, so preventing encephalopathy was an urgent priority.

Soon the prednisolone had turned Jai into a grumpy, sleepless baby who put on lots of weight and was too upset to even try to do tummy time or grab for toys. Heather would wake several times overnight to feed and comfort him, and would get a few broken hours sleep. On mornings when I wasn’t at work, I would wake to take Jai for an early morning walk at first light, to give her some rest. He would calm down somewhat in the pram or frontpack, hearing the wind and birds and sounds of the world, but usually wouldn’t be able to sleep till after another feed. Forty mg daily settled down the spasms somewhat, but not completely, so we went up to 60mg daily, a huge dose for a small boy! Luckily the course would be for 6 weeks only, 60mg for a week, then reduce gradually.

Jai’s development went backwards at this time, more due to the spasms than the prednisolone apparently. He lost tone in his neck and trunk, stopped moving his hands in front of his face, stopped cooing and laughing, and started to clench his fists most of the time. We attended an allied health appointment at the hospital but apart from giving us some exercises to do at home, they said he was too upset to do much assessment. They noted increased tone in his left leg as well as his hands.

Finally, after 6 weeks of daily seizures, they stopped, for 4 days at least, and Jai started to smile occasionally again. Finally light at the end of the tunnel! We saw Dr S, our Paediatrician who was optimistic, pleased the seizures had finally stopped, and that Jai was still alert and focussed.

More strange movements

We were counting the days till we could start weaning prednisolone. Right after we started weaning, however, Jai started having some strange new movements, turning his head to the right with flexion of his right arm. These were quite regular on his morning walks, but not really upsetting him much, and his development had started to progress again, smiling more, cooing more, doing more with his hands. I became worried that these movements were seizures again, or, worse, spasms. I sent a video to Prof L, who was likewise concerned and wanted to admit Jai again for a 24 hour video eeg. It was harder finding a bed this time, so Jai had a 90 minute outpatient eeg first (which looked okay) then a 48 hour inpatient video eeg, which captured the episodes but also appeared okay on initial look. So maybe the movements were dyskinetic movements related to polymicrogyria or to the steroids. We are awaiting the formal report after a more thorough analysis of the eeg, but are very happy to be home again.

Smiling Jai

Jai's first smiles were at maybe 3 months of age, before we noticed he was twitchy. And throughout those first few days in hospital and during the progression of his seizures, right up until he started steroids, he kept interacting, focusing on faces, smiling, sometimes laughing. Maybe the hardest thing about the steroids was that these smiles became rarer and rarer, finally nearly disappearing altogether.

By the second admission, he was again smiling and laughing more and more, though he still had some bad days where he was more upset. And during the admission, stuck in his 2 square metre space of floor (so the video monitoring could capture his movements), he greeted all of us with smiles and chuckles, and charmed the nurses, doctors and allied health staff alike.

We are home now, and as at the start of summer, Jai's had no seizures for 3 weeks. We are lucky in many ways. It is our blessing that we have a baby who smiles and laughs easily, is easy to love. And to have access both to a pretty great health service and to some wonderful, supportive friends who have enclosed their wings around Jai as well as us. A strong base from which to await the challenges ahead.