Jaxon’s story – as told by his mum Emma, highlights the difficulty in getting swift action when infantile spasms are suspected, even in children known to be at increased risk of developing them because of an underlying condition. UKIST supports worried parents like Emma to advocate for rapid diagnosis and treatment for their children.
One of the most important things we were told as we left NICU when Jaxon was a month old was that he was at risk of developing seizures at some point in his life.
Not just a little bit of a risk, there was a whopping great big likelihood that Jaxon will receive some sort of epilepsy diagnosis somewhere down the line.
It wasn’t a definite but with his brain damage being so severe it was distinctly probable.
From that moment on I watched like a hawk, ready to deal with the situation should it arise. If one day Jaxon were to collapse, begin foaming at the mouth and start moving uncontrollably I would remain calm.
Only, the more research I did, I realised it might not be like that. If Jaxon had a seizure it likely wouldn’t present like it does in the films. It could be something as simple as a twitch or a head drop, it might be an eye roll or smacking of the lips.
The chances of it being what I’d imagined was actually quite slim.
Both a blessing and a curse.
I didn’t want to see Jaxon have a great big seizure but now the fear was different, if he does indeed have seizures they may be so subtle that I’ll miss them.
I spent hours upon hours researching. I watched videos of what different seizures looked like. I read what the symptoms were. I learnt the names. Focal, Myoclonic, Absence. I learnt that Tonic Clonic is the name for the seizures that I believed were typical epilepsy.
Then, “Infantile Spasms” popped up. I was drawn to this as it sounded like it was something that affected babies or young children.
I read and read. It was terrifying. It was quite rare though. It did occur more frequently in children who had suffered a hypoxic injury but it was still uncommon. I read how if Infantile Spasms was to arise that it’s a medical emergency.
It can affect development and in some cases it has been known to cause children to regress back to newborn level.
We’d been through so much, surely this wouldn’t happen to us.
I thought I was just being overly anxious. I knew what to look for but I told myself it was likely I’d never need to know. If Jaxon was to develop epilepsy it will probably be when he’s quite a bit older.
Then, a couple of months passed and I noticed Jaxon displaying some unusual movements. He has such severe reflux that I attributed it to that. But I couldn’t get the stories I’d read and the videos I’d seen relating to seizures out of my head.
Could these be seizures?” I asked Jaxon’s Daddy. He shrugged. He was as clueless as me.
Over the next few weeks I tried to capture his unusual movements on video. By the time our next appointment with the paediatrician came around, I was a nervous wreck.
I’d convinced myself Jaxon was indeed suffering with Infantile Spasms.
I showed the paediatrician the evidence I’d built up over the previous weeks but she wasn’t convinced. She explained that his movements weren’t typical IS.
I felt frustrated, I’d seen so many videos and whilst Jaxon’s movements weren’t the typical jack-knife motion that comes with a spasm they did look suspicious, there were a lot of similarities with other IS videos I’d watched and I didn’t want to rule it out without an EEG.
She agreed to arrange a 20 minute EEG if I felt that it would put my mind at rest. I wasn’t convinced it would pick anything up, what if he slept through the whole thing?
But it was all that was on the table at that moment so I took it.
I asked if anything suspicious showed what would happen next. What if it didn’t give a clear answer? She explained that if it was IS it would more than likely show within those 20 minutes as IS has a specific brain wave pattern which is a clear characteristic in diagnosing.
The EEG appointment came through a week later and we only had to wait another couple of weeks or so before our appointment date. I asked on the day if the lady who carried out the test could tell me anything. As expected, she told me that she couldn’t and we would have to wait for the results.
One week passed by, then two. The spasms were increasing in both frequency and duration. I wasn’t happy with how long it was taking to get the results. Jaxon had a particularly bad weekend and I managed to capture numerous clusters on video.
By this point I didn’t need the results from the EEG. I knew what we were dealing with, I knew it was Infantile Spasms.
First thing Monday morning I called the paediatrician’s secretary to chase the results. She explained they were still not back so I told her that the next cluster he had, I’d catch it on video and take him straight to A&E.
I couldn’t afford to wait any longer, Jaxon needed treatment, who knew what damage was being done each time he had an episode?
She agreed this was the best course of action and just a few hours later, as expected he had another 15 minute cluster.
I recorded some of it on video, packed a bag, got him in the car and drove to our local A&E department. We have open access to the children’s ward but I’ve been advised previously that if I suspect seizures go to A&E first. The nurse said she would take us up to the children’s ward and the doctor would see us there.
We were shown to a bed on the assessment unit and waited half an hour for the doctor to see us. He took one look at my video from that evening and instantly validated my concerns. He told me he believed they were Infantile Spasms and the best course of action would be to admit Jaxon and chase the results, if they came back confirming IS then treatment could be started straight away.
It took another three days to get the results, during that time he had to have several doses of buccal midazolam, rescue medication, as he was having over 50 spasms a day.
Prior to this the doctor spoke to the lady who carried out the EEG to ask if she remembered anything specific from that afternoon.
She told him that Hypsarrhythmia was present, the pattern that is a clear characteristic in diagnosing Infantile Spasms.
I was so angry, if she’d told me that the day we had the EEG done I wouldn’t have waited another two weeks to get the results.
We received the diagnosis that I’d feared but expected and treatment commenced straight away.
Gradually I saw the baby that I’d brought into hospital fading away due to the medication. He was sleeping all the time, he was losing his suck and swallow that he’d worked so hard to develop, his head control became non-existent, his reflux got so much worse due to the steroids and in the moments when he was awake he wasn’t really alert.
I hope these side effects are all just temporary. The medication that is being used to treat the IS can cause blindness, pain and confusion.
What a horrible double edged sword.
Either I allow him to have the medication that comes with some pretty shocking possible side effects or I leave him to continue having the spasms, likely causing irreversible and serious damage. It’s a horrific position to be in.
Three weeks on and the spasms have stopped completely, thankfully. Jaxon will be on the medication for another couple of months at least before a repeat EEG is carried out to see if the Hypsarrhythmia has gone.
He is still having other types of seizures that occur daily but nobody seems to really know what they are. They look like focal seizures but hopefully the repeat EEG will tell us more.
So this is our journey with epilepsy so far. I’ve got a feeling it’s going to be a long and bumpy ride, with many twists and turns.
A ride that I wish we could just get off right now.