Background

So most people who know us also know about Alex. They know that he is incredibly sweet and loves a good hug. They also know that he loves to jump on the trampoline, play in water, listen to music and has significant additional needs.

Those needs are as a result of a rare and tiny chromosomal duplication called Dup15q which was diagnosed around 7 months of age. So for the past 11 years we have been heavily involved with therapies, medical teams, support workers etc. Alex took many years to learn to walk and remains non-verbal; although he has very expressive eyebrows!

For information regarding Dup15q please click here

Alex remained seizure free until April 2021. Initially it was just the odd drop here and there. Alex would be eating and his head would suddenly drop forwards often hitting his plate. But he would continue with whatever he had been doing at the time like nothing had happened. I had read about atonic drop seizures in Dup15q and knew it was always on the cards for Alex. I hoped that what I had seen wasn't what I feared it could be. But within days the seizures became more frequent and then the flood gates opened.  On Mothers Day 2021 we counted 100 atonic seizures by mid afternoon and knew we were in trouble. And so began our relationship with the Neurology Team at JHH. At first they were confident they could control the seizures. But it soon became apparent this beast wasn't going to be tamed and would continue to grow and develop.

A PEG tube was inserted into Alex's stomach in October 2021 to assist with administering the cocktail of anti-epileptic medications required along with fluids and sustenance during periods when he became unwell; often as a result of seizure activity.

Fast forward 18 months and despite trialling multiple medications and combinations Alex's atonic drop seizures continue. On average he has around 10 atonics per day and keeping him injury free is a constant challenge whenever he gets up on his feet. Children with atonic seizures eventually present with broken teeth, broken jaws, facial bones etc so we have been lucky to avoid this to date. Our most serious injury has been lacerations to his chin requiring stitches and this was traumatic enough. Unfortunately however the atonic seizures now often develop into complex partial and generalised tonic/tonic-clonic seizures. These seizures leave him exhausted, disorientated and unable to function. They have become dangerous and distressing for all involved.

Enter the Neurosurgical team with Dr Dexter at Westmead Children's Hospital. I visited Dr Dexter with Alex on the 3rd November. Alex's case had been discussed at length following an overnight stay at Westmead in October 2022 where he was hooked up for video EEG allowing seizure data to be collected and analysed. A corpus callosotomy was highly recommended to try and reduce the severity of the atonic seizures. This procedure involves cutting a band of fibres (the corpus callosum) in the brain. Afterward, the nerves can't send seizure signals between the brain's two halves. It makes seizures less severe and frequent. 

Click here to see details about what a corpus callosotomy is all about.

So the date was set for November 15 - less than 2 weeks from the date of our consultation with Dr Dexter! There is a lot to get organised prior to our admission to Westmead. Unfortunately Alex has been very unwell in the lead up to his surgery which hasn't been ideal. Delaying the surgery will potentially also place him at risk so we are doing all we can to build him up in time.

If all goes ahead I plan to keep a daily log of Alex's progress on this forum. As I will be on my own for the majority of Alex's admission (which is estimated to be about 2 weeks) I won't have capacity to answer individual messages but I am aware and touched that so many people would like to be kept in the loop. This is the first time I have blogged so stay with me and lets see how this goes...