Keanu’s Story – a story of Juvenile Epilepsy.
May 17 2020
Stacey Smiler talks about her son, Keanu’s, journey with epilepsy from the age of 1 to now, 5 years later. She talks about his diagnosis, what impact it had on Keanu and about discovering the epilepsy was caused by a CHD2 gene mutation. Stacey also gives some useful tips on how to interract with people with hidden disabilities.
An Unexpected Story of Juvenile Epilepsy
In May 2015 my son experienced his first seizure. At this point he was 1 year and 5 months old. There was shock, panic and a bit of chaos as we were on holiday in Sydney at the time.
An ambulance arrived and we took him to the hospital, as he was suffering from an ear infection the seizure was classified as a febrile seizure which can be quite common amongst infants when they are unwell and experience something like a spike in temperature.
Shocks or seizures?
Fast forward four months and I began to notice Keanu making small shock-like jerks when I was feeding him in his highchair. It was a tic-like action in which his head would quickly move. At the time I was living in Hong Kong completing my PGCE and my husband was working in Australia, not the best timing! I asked my mum if she had also noticed these tics in Keanu and she had.
The first GP that we saw, said it was him getting ‘a little fright by things’ as he was still so young and still developing. However, the tics were increasing, one day I counted up to eleven of them. We decided to get a second opinion and booked an appointment with a paediatrician.
Of course, as we all do, I had already googled Keanu’s symptoms. Although I do not advise googling health-related issues, at least I had prepared myself that this could be epilepsy-related. As I suspected the paediatrician confirmed this and referred us to another paediatrician specialising in neurological conditions.
Then we began trialing different medications. As you can see, it is always worth getting a second opinion and third and fourth if your intuition is still telling you something is not right. It is always better to know you explored all options rather than wondering about the ‘what ifs’.
In the meantime Keanu’s seizures had increased in aggressiveness, they had turned into what are called ‘drop attacks’. Drop attacks are where the person loses control of their legs and their arms go stiff while stretched outright, their eyes roll back and their head may shake or nod. Thankfully for us they have rarely lasted for more than 30 seconds. I remember thinking and worrying this was long because it certainly felt it, however, the doctor assured me that some types of seizures can last 20-30 minutes!
The seizures resulted in massive hematomas the size of large eggs on the front of his head, busted lips, black eyes and other horrible facial injuries. My mum basically padded out the whole apartment with protective cushions so that if he fell on the floor or against any sharp edges at least the injury would be minimised.
Keanu would cry, get hysterical and not understand what was happening. For us it was heartbreaking to see him in pain and also we had no idea when another seizure would strike.
Seizures can be hard to treat
With epilepsy it can sometimes be hard to treat seizures. There is a lot of trialing of different medications until the right combination can be found. It took us roughly two years to get things under control. There are also many different types of epilepsy, resulting in different types of seizures. Before Keanu’s diagnosis I honestly knew nothing about epilepsy. If someone had mentioned it to me, I would have thought of a full-body Grand-Mal seizure which are the most noticeable and aggressive-looking.
It is important for people to know that epilepsy can take form in many different ways. If you work, live or socialise with someone with epilepsy, learn as much as you can about what you can do for that person, with regard to the seizure plan written by their doctor.
For a while Keanu wore a scrum-cap which protected his head, especially the back where the softer brain tissue lies.
Tests, tests and more tests..
Keanu had an MRI which came back clear, this was a relief. He also had a lumber puncture (spinal tap) where the doctor takes fluid from the spinal cord to rule out infections as the cause of seizures, this also came back clear.
However, the EEG (electroencephalogram) did show abnormal electromagnetic activity which was expected.
Keanu has his EEG but does not want that cap!
This test is used to help diagnose conditions such as seizures, epilepsy, head injuries, dizziness, headaches, brain tumors etc. In order to perform an EEG they have to apply a cap with electrodes on it to the skull. Keanu had long curly hair at the time and bear in mind he wasn’t even 2 yet, so here we have this little boy trying to tear off this cap while we desperately try to keep him still! The logistics of these situations was good preparation for the future when we would find ourselves in and out of hospitals and clinics for various tests and checkups.
Trying to get the medication right
At this time, we were meeting with the neurologist weekly while trialing various medications. She kept asking if Keanu was showing any regression in his skills or learning. At this point, October 2015, he was not. However, as time went on and the seizures remained not fully under-control he did regress. The words he did have he lost, the skills he had shown like putting a ball in a bucket and chasing bubbles also disappeared.
Thankfully we had been given the opportunity to take part in university research relating to genetic testing of young children with epilepsy. I am beyond grateful for this and the ability of genetic researchers.
This test showed us that Keanu had a CHD2 gene mutation which is basically characterised by recurrent seizures (epilepsy), abnormal brain function), and intellectual disability. This was able to provide us with some answers, neither my husband nor I had any family history of epilepsy so prior to this we were quite confused although it was evident that Keanu had a developmental delay and features of autism.
After consulting with our neurologist in Auckland he confirmed that Keanu falls into the category of having Lennox-Gastaut syndrome (LGS) which is severe form of epilepsy that typically becomes apparent during infancy or early childhood. Children experience several different types of seizures and they may additionally develop cognitive dysfunction, delays in reaching developmental milestones and behavioural problems.
2020 and 3 years seizure free!!
Now here we are in 2020, Keanu has not had a seizure since November 2017. This is good news that he is seizure free and although his development progresses at a slow rate he is a very happy boy who is (most of the time!) smiling and a joy to be around.
He takes 3 different types of medications which are a good combination for him right now. However there is always the fear of ‘if’ and ‘when’ he may experience another seizure. This can be particularly scary if he gets sick as it stops the medication from being absorbed. There may also be changes as he gets older and puberty kicks in. These may be hurdles that we will have to face in the future but for now we just concentrate on one day at a time, giving him what he wants and needs to be happy while maintaining a calm and comfortable home life at the same time.
Keanu is 6 now but has the cognitive abilities of about a 1 and a half to 2 year old, so for us safety is a big concern and he needs to be watched at all times. In the past year he has made so much progress with his eating and will eat a whole range of food without sensitivity. He is improving in communication too by showing us or taking us by the hand to what he wants. He is more familiar with his surroundings and where he is in place and time and will even observe others when he feels like it.
Not sure what to say to us?
For now, I would like to leave you with my 5 top tips for interacting with someone (or their carer) with a hidden disability:
1. Be confident and ask questions.
We can only explain more if we are asked. Our children consume a lot of our thinking time and sometimes we simply don’t want to bring up the topic. But it is different when someone shows a real invested interest in order to learn more and deepen their understanding. With that in mind, be respectful and thoughtful when considering what to ask or let them know you are unsure how to phrase it.
2. Lend a hand without being asked.
Often people don’t like to say ‘yes’ but they would really benefit from help. By running an errand or helping round the house, you can assist the carer or person more than you know.
3. Accept different ‘normals’.
Yes it is not ideal for Keanu to still be drinking a bottle in the morning and at night but this bottle contains his vital medications with his favourite milk. For lots of individuals with disabilities allowances and adjustments to the norm are everyday occurrences that we don’t even bat an eyelid about.
4. Talk to the person with the disability.
Even though they may not reply, human beings thrive from connection with others. Who knows they may have acknowledged you in a form of communication you are not familiar with such as eye pointing, sign language, or facial expressions.
5. Always be positive and hopeful with your presumptions.
This is one we are always being caught out with with Keanu! One day last year he grabbed a piece of pizza from his dad’s hand and began eating it independently. Prior to this we always cut his food up and assisted him! Our children will constantly surprise you with their abilities, some of them may not be verbal but this does not mean they don’t know what they want! They are extremely strong-willed and brave.
I hope you enjoyed reading this blog post and can come away from it having learnt something new!
Hi my name is Stacey Smiler, I am a married mother & teacher of 2 children; Keanu (6 years old) and Koel (7 months old). We currently live between New Zealand and Japan due to the nature of my husband’s work. We have been married for 7 years and have also lived in Australia. I am extremely grateful for the medical services in the countries in which we have lived. You can read more about us in our blog Keanu’s Story.
You can find out more about epilepsy here: Epilepsy Society You can find out more about Lennox-Gastaut Syndrom from the National Organisation for Rare Disorders . You can find out more information about CHD2 gene mutation here: epilepsygenetics
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