Islas first seizure that I witnessed was when I was on the phone to my Dad and Isla was banging the pots and pans on the kitchen floor when she was a toddler. I just remembered telling dad it looks like Isla has had a fit. It happened so quickly that I afterwards didn’t know what I saw and whether I had imagined it.
There was another time she came in pale and crying from the garden and I leaned her over the sink as she looked like she was going to vomit.
After diagnosis of 2q23.1 Microdeletion Syndrome where we learned seizures are a common phenotype I realised that I hadn’t imagined it at all and the blank stares, where there was nothing behind the eyes, could be absence seizures too.
After the third episode where she definitely had an eye rolling seizure on a swing, witnessed by my Mum, we decided to visit the Neurologist.
She had EEG while asleep and it showed generalised epileptiform activity (maximal anteriorly)…..still not really sure what that means! However the Neurologist advised it would be a good idea to medicate in case it was affecting Isla’s development and Lamotrigine was his recommendation given that it had the least amount of side effects and is also a mood stabiliser.
Once we started the meds that’s when Isla’s behaviour became more challenging. I don’t know whether that was because of just the age she was at, the fact that her brain activity was calmed so she wasn’t away with the fairies so much or whether it was an effect of the meds. However there were no more episodes for a bit and she was sleeping better.
Three years on she has had plenty of break through seizures. This normally happens when she is growing out of her meds and pain and shock seem to be triggers. The Neurologist tells me this is not normal but with all her seizures (apart from 2 or 3) pain or shock have started them. Hurting herself by falling or banging herself have caused them, ice down her top, ice on TV, balloons popping have all been triggers. This is what is confusing… if these aren’t seizures…body shaking, eyes rolling, trouble breathing followed by paleness, weird crying, disorientation and falling asleep…what are they? Confusing….
The problem I guess to diagnose and see what’s going on is to show this on an EEG while it is happening to see what part of the brain is being affected. To recreate a situation of shock or pain for Isla, which is always a bit random anyway, wouldn’t be pleasant for anybody so this won’t be happening soon. Would be interested in hearing from anybody who has the same thing happen as so far seems to be rare just like my baby girl. She is due for a sedated EEG early next year though so will be interesting to see what this shows.
My “expert” opinion is that as Isla’s sensory system is dysfunctional and she often doesn’t always feel pain or process shock normally. This causes a huge surge of electrical activity in her brain which causes a short blip in its usual function.
A few days ago Isla had a short episode where she hurt her tummy on her sisters knee. Carys was screaming for me so ran up to the bathroom to find Isla pale and saying she had a seizure. Carys said she went floppy them starting shaking and breathing funny. Is not always really obvious if is a seizure on not! I can normally tell with the aftermath. We had a cuddle and she started asking why I have seizures mum? I went about trying to explain that her brain is wired a bit differently. Why mum? Because you were born with a little bit missing on your….chromosome (no she won’t understand that), your DNA (not that either), your brain I said. Five minutes later….why was I born with half a brain mum? Oh dear! Not half a brain darling, your brain is a bit different and you are very special I said. Argh!!! Have just requested “The Rabbit with Epilepsy” book from the library hopefully to do a better job explaining it than me.
With Isla’s syndrome a large majority of the children have seizures. In fact a lot of children with ASD and other chromosome rearrangements also have epilepsy.
With 2q23.1 MDS seizures vary in severity, type and how well they are controlled with medication. Some seizures have a detrimental effect on a child’s development and speech. It seems often the medication isn’t always the easy answer and causes more problems than the seizures. Other children have never had a seizure.
Again this is a huge unknown for Isla. Whether she’ll grow out of them, whether they’ll get worse when she gets older, whether the medication she is on will continue working and controlling the activity. And whether there is still spiking going on that we are unaware of that is attributing to her delays. There is another seizure disorder called ESES that I am always on the look out for where seizures occur in their sleep. You cannot see anything but can cause regression.