Let’s talk about
West Syndrome.
IS is a very rare and disabling seizure disorder in infants, usually with an onset around six months of age. Its estimated approx. 2500-3000 children are diagnosed globally each year. At Luella’s worst she was having 250+ spasms a day.
Let’s talk about
West Syndrome.
IS is a very rare and disabling seizure disorder in infants, usually with an onset around six months of age. Its estimated approx. 2500-3000 children are diagnosed globally each year. At Luella’s worst she was having 250+ spasms a day.
What is West Syndrome?
‘Infantile Spasms, also known as West Syndrome, is a type of epilepsy with a characteristic age of onset, pattern of seizures and electroencep…..
Electroencepa-what!?
Did you do the same as I first did, and ask your Doctor to please repeat? What language were they speaking!?
When I first read this description about WS on some scrappy, photocopied, piece of paper given to me from my neurologist, I felt like I was reading a foreign language. It made zero sense. So it went straight in the bin.
So, I want to try & break this down a little.
And I will, but there is much to share, especially if you are in the initial phases of this diagnosis.
No doubt you’ve googled the hell out of IS/WS, so I’m not going to rehash what you have already read. Yet no doubt in some ways you haven’t really absorbed, because WTF is epileptic encephalopathy, refractory epilepsy, vigabatrin, and the plethora of medical terminology that is being thrown at you right now?!
It’s like its purposely designed to bamboozle and be indecipherable, right!
So lets try and unravel it –
The breakdown
Infantile Spasms/West Syndrome is known as a catastrophic form of epilepsy.
Read that again – catastrophic.
And I mean that. It should not be taken lightly. (If you suspect your child of having IS please go to ED without delay. You can click on tab xxxx with examples of what IS/WS can look like if you need help with potentially identifying symptoms.) IS is a very rare & disabling seizure disorder in infants, usually with an onset around 6months of age.
However, for us it was far sooner. I first noticed a strange movement Lulu began to make around 8weeks of age. Her torso would slightly crunch forward and her arms slightly jerking out horizontally, yet they were astronomically fast. Blink and you’d miss them.
Initially the spasms were random and individual, but then I noticed them becoming more frequent, and what I now know to be called, ‘clusters.’ This is where a series of spasms happen one after the other, with very small breaks in between.
Clusters can last for a handful of seconds, you might see one and then nothing for hours. Or possibly, like at Luella’s worst, they were nonstop, having 250+ a day.
Symptoms can also include the legs crunching upwards to the chest, it could be the eyes deviating upward or to a particular side. It could be a head nod. Or something as a slight as a tiny shoulder shrug. However, often it can be a varying combination of all of the above, along with others.
Every child presents differently.
IS can be incredibly hard to capture but if you are suspicious that what you’re seeing could be IS, keep your phone at the ready. Or find a way to set it/an ipad up on record (all day if you have to!) to capture them on film. This will be one of the greatest confirmations and help for Doctors, when you present to them.
“Looking back, I wish I had listened to my gut and acted upon what I saw sooner.”
But as a first time mother suffering from PND, I put it down to some random involuntary movement, that all babies can make at such an early age. Yet, my gut just kept telling me – something isn’t right!
But what if your child is older and seemingly developing ok?
I say this to the mums who may be reading this (not because your partner isn’t qualified to understand), you as the mother, who carried your child, who birthed them, who is more commonly with them the most, please listen to your gut.
Not the fear that is running riot in your head. But instead that innate motherly instinct that is calling out from within. It is there to guide you, and more often than not, will prove correct.
All too often GP’s and Paediatricians misdiagnose IS with conditions such as Sandifer’s Syndrome, the moro reflex, or just a plain startle. All of which I assure you IS is not.
However, it’s at no real fault of their own. With IS being so rare, very few Paed’s, let alone GP’s, will have firsthand experience with it.
Its estimated that approx. 2500-3000 children globally are diagnosed each year. Roughly broken down into Australian stats that’s something like 190 per annum. Spread that across the amount of GP’s/Paed’s nationally….well, you do the math. So, it’s not uncommon for them to send you home telling you it’s nothing.
My advice – don’t listen to that. If you truly feel something is not right and your child is showing symptoms of IS, head to ED immediately as the sooner you catch it (in some cases) the better odds your child may have with early treatment.
Along this journey and the array of parents I’ve spoken to, I’d estimate approx 98% of them (myself included) do not go to ED straight away. Mostly because they just don’t know what they are seeing, but mainly because they are worried of being hypochondriacs, over reacting, reading into it, etc.
What I tell every parent who sends me footage of their child (which is far too often than I like to admit) is to just go to emergency. What have you got to lose?
Better wrong, than waiting.
So then, what is West Syndrome?
IS & WS are often described as the same condition, when really, they slightly differ. Infantile Spasms can exist without the diagnosis of West Syndrome.
To be diagnosed with WS, a child must present with a combination of the following trio of symptoms:
- Spasms
- Intellectual disability/significant developmental delays
- Hypsarrhythmia
Number one
You have probably already seen by now. Keep filming the spasms at every opportunity in order to show your Doctor.
At this point I’d also recommend starting a spasm log book – recording the day, time and how many, to try and see if there is a pattern. Often children have more when tired & falling asleep or upon waking. Or possibly more happen during/after they have eaten (I’ll share more on this one later).
Or sadly, if your child is anything like Lulu, there is simply no pattern at all.
Number two
Could be an array of different features, and will be different in each child. However, the main two you can look out for is, firstly, your child will most likely, not be meeting their milestones. And by that, I mean significantly, not just a month or so behind. However, with Lulu this was very difficult for me to determine as she was so young, but as far as her paediatrician determined, she was typically developing.
And/or secondly, your child has regressed and is no longer doing what they used to do, e.g. no longer/decreased crawling, no/reduced babbling, no eye contact/tracking etc. For us, Lulu had very little head control and detested tummy time because of WS.
However, the above examples are not always the case for every child. It is common for parents to share with me that their child was developing relatively on track.
Unfortunately, this is the uncertainty that comes with WS, things can change in the blink of an eye and decline rapidly, or it could be the smallest of changes you notice.
But what of number three?
How the eff do you even pronounce it! I hear you say.
Hyp-sar-ryth-mia is classified as severely abnormal & chaotic brainwaves detected by an EEG (electroencephalogram).
An EEG comprises of about 26 small electrodes that are placed on a child’s head, secured with a glue-like substance covered in a hair net or with tape.
Brain waves produce electrical frequencies that are sent up through these electrodes and recorded. Doctors then interpret the brainwaves and how they are behaving, to try and determine what’s happening in the brain, and to possibly provide some kind of cause, aka eitology.
Abnormal & chaotic brainwaves mean that the messages the brain is sending and receiving are scrambled, which prevents the brain from working properly, and in turn causes damage and delays. If Hypsarrhythmia is left uncontrolled it may lead to what’s called ‘epileptic encephalopathy’ (EE).
In lay terms EE is ongoing damage behind the scenes in the brain, often accompanied with spasms. And it prevents the brain from developing and growing as it should.
Frustratingly, Hypsarrhythmia is often left open to interpretation.
In our case we ended up obtaining a second opinion in Melbourne.
Sydney neurologists were adamant Lulu did not have Hypsarrhythmia, whereas Melbourne did.
At this point we promptly changed neurologists! And please know you CAN do this. Just because you were allocated a Doctor was rostered on that day/night, doesn’t mean you MUST accept them as your treating Doctor. You have the right of refusal to anything and I cannot stress this enough.
In our experience much of the epilepsy world is a complete guessing game. And to date no Doctor is able to find a cause for Luella’s epilepsy.
The above image (white), are what regular brainwaves should look like.
This image (yellow), is Hypsarrhythmia, aka – chaos.
So what now?
The first thing I want to touch on about this form of epilepsy, and most for that matter, is that it is incredibly rare to ‘grow out’ of seizures. If by gods given grace you find seizure control with medication, then yes, hopefully your child will be able to grow and develop neurotypically.
But, if like Lulu, and no medications work, then ‘growing out’ of spasms/epilepsy is simply just not possible.
In simple terms, seizures cause brain damage. And if that damage cannot be stopped, it will continue to cause ongoing, irreparable damage & disability.
Treatments
Whether you have been given an IS or WS diagnosis the first treatment your neurologist will often recommend is to start your child on a course of steroids, most likely, prednisolone.
This is a liquid steroid with dosage starting around 2mg and will increase and then decrease over a course of about 4-6weeks.
In a perfect world the steroids stop the spasms and you’re home free. This happens for only a very small pool of children.
The rough stats with IS/WS are something like,
10% are cured
10% will die
And the remaining 80% will live on, only to endure irreversible and severe disabilities.
Read More About Luella
How You Can Help
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