'At five months old, our son developed a jerking motion. What followed was a devastating diagnosis.' 

Adam Gillibrand is the father of five-year-old Jamie, who was born with a severe epileptic condition. With traditional treatments failing their son, this is the story of their search to give their son some hope for the future.

Jamie is our third and youngest child, so when he came along we weren’t inexperienced parents. But at five months old, Jamie started developing a jerking motion, what we thought was the so-called falling reflex or Moro reflex, common to many babies.

But it grew worse over several weeks and as we were about to fly to Port Douglas for our winter holiday, we thought we had better seek medical advice and get cleared for take-off. For speed of response, we decided to go straight to Emergency at the hospital rather than our GP.

In ER, by chance that day, the epilepsy specialist was on duty. My wife had filmed the falling reflex and we showed it to him. Immediately he diagnosed it as epilepsy at which point we had no idea what that meant and weren’t unduly worried.

The diagnosis of epilepsy was both shocking and devastating. We had no clue what to expect or how we would cope as a family. As a parent you go into survival mode only being able to cope with immediate thoughts and events. The moment you mentally venture into the future you become extremely overwhelmed. In addition, having two other children puts pressure on you as a parent to protect them from the stress and sadness, there’s no time to have a breakdown.

After that initial diagnosis, he was then diagnosed as having infantile spasms which, they don’t tell you at first, is a very very sinister form of epilepsy. It’s intractable and the first advice from the neurologist to us was not to Google it.

We were sent home with medication. The first step is to give an extremely high dose of anti-inflammatory steroids and the poor little fellow blew up like a little balloon. But, at that point, it also meant that he had two weeks of no seizures. But you can’t keep a patient on that dosage as it’s very dangerous. Then the medics wean the patient off that in the hope that it has fixed the problem. But it hadn’t.

Then Jamie was put onto Sabril. I remember them telling us it was a great drug as it had been around since the 1950s.

Intuitively, you think, what no medical advance in 50 years? That didn’t work either and, to cut a long story short, after nine months of a really hefty cocktail of anti-epileptic medication, with the seizures getting worse not better, we were stuck.

The hardest aspect of our journey was the realisation that the treatment was a guessing game: trial and error of multiple medications with no real explanation or long term goals.

We started to do more research and decided to try a different path and saw a neurological specialist who had a different methodology. This new approach worked a little, but not enough as at this point Jamie was 18 months old and having four, five or six major episodes in any given day.

Normally at that age, you would expect babies to be getting self sufficient, starting to walk, sit up and feed themselves. But because the seizures were so severe for Jamie he couldn’t crawl or support his body, he couldn’t feed himself or sleep all the way through the night as the seizures woke him up – and there was no communication, so he needed 24/7 attention. And what the research was telling us about infantile spasms was awful as mortality rates are terrible.

The impact on our family was devastating. It took over all our lives and the other two children had to muck in and take a back seat. So, from a family unit perspective, it is a very debilitating condition.

This sense of hopelessness turns into isolation which can be very dangerous without support. I’m very lucky I have a strong family network but I often think of those that don’t. There needs to be some kind of facility that parents can lean on in times like these, not only for the emotional support but also to access information.

Luckily, we’ve been in a situation where I’ve been able to work and my wife hasn’t had to so she can just concentrate on the children. But after two years, we were getting nowhere, we really didn’t know what to do, and it was a very demanding and stressful situation, particularly for my wife.

She began looking at global research to find out what was out there. And with the help of the internet, we discovered that there were three hospitals in the USA that specialise in paediatric epilepsy.

If you look at the data, the Boston Hospital is the number one in the world and the surgeon Dr Joseph Madsen is number one for paediatric neurosurgery. I managed to get hold of his contact details and wrote to him. Twenty-four hours later he had replied, and six weeks later we were in Boston.

*****

Jamie was just under three years old when we arrived in Boston. We spent a week-long residency at the hospital where we went through a battery of testing and observation.

The differences between what we had experienced in Australia were quite amazing.

In this country, you are lucky to get a 20-minute EEG, and the MRI scans that Jamie had were completely inconclusive.

In Boston, after a three-day long observation, MRI, a SPECT scan to show how blood flows and MEG analysis (a neuroimaging technique for mapping the brain), we discovered that where we thought our son was having five or six episodes a day, in fact he was having 75 seizures a day, which prevents any kind of cognitive development – or any development at all.

The prognosis was grim: he would be in a wheelchair for life with no independence, receiving 100 per cent care.

The doctors debated whether Jamie was a suitable candidate for brain surgery. The view of my wife and I was that we were trying to give him a shot at life, so we were quite pro the idea, if that is what they recommended.

They suggested a Corpus Callosotomy, a palliative procedure that severs the two brain hemispheres by cutting the corpus callosum, interrupting the spread of seizures, and is proven to be around 70 per cent effective. It’s a procedure that preserves the motor cortex but permanently alters the geometry of the brain.

We were at the point where we would do anything to help him and in December 2015, we decided to go ahead. The operation was performed without a hitch and the effect was almost immediate.

By the end of January he had stopped having seizures and then, in March, he started walking. Jamie was on a manageable dose of medication but we spent a blissful year without seizures; it was a game changer for us and although Jamie had delayed development, his quality of life was improving and it was a massive change for the family.

But as the Bostonian medical team predicted, this wasn’t a cure.

Sure enough, the seizures began to return and 18 months later in June 2017, we wrote to them again. We were in the care of a local neurologist in Australia as well and first of all we upped the medication on his advice. Nothing happened. In Boston they advised us to come back for some more residential testing.

They could see things that other hospitals don’t have the capability to see. They detected a malformation on the frontal right lobe of the brain and again recommend Jamie as a candidate for further surgical intervention.

He underwent what the surgeon described as ‘a three-quarters hemispherectomy’ in which the right temporal lobe and front right lobe are disconnected. It’s quite a rare neurosurgical procedure in which a cerebral hemisphere is removed, disconnected or disabled.

Again, the operation went smoothly. It’s been four months since then and Jamie hasn’t had any seizures and has taught himself to walk downstairs unassisted, to feed himself and use cutlery.

In January, he turned five years old. Our family is strong, loving and more resilient after this experience, it continues to be a challenging journey but now there is hope and laughter.

There will be people reading this with no end in sight for themselves or people they love, and I want to alert them to the fact that there are other ways.

But, of course, it comes at a price. It costs hundreds of thousands of US dollars and we sold our house to pay for Jamie’s treatment. We are in a fortunate position where we are able to do that and we are fine. We are lucky in that regard, I know that.

I’m not criticising the Australian medical establishment. My observation is that there are two different medical protocols operating. The Australian protocol is to medicate and surgery is a last resort. In the US, surgery is an early intervention methodology - if the diagnosis will support it.

Because there is this different philosophy around the treatment of epilepsy, and far more money at work in the US , they have really advanced radiology, medical technology and the surgeons are match fit as they have done thousands of these operations already.

From my experience with my son, I can only hope that Australia begins to move towards the US approach and invests more in the treatment of this common brain disorder.

For further information, please contact Anita Gillibrand via EAA (www.epilepsy.org.au).