Warrior of the Week

Happy to announce this week’s #Warrioroftheweek Edward .

Our little boy Edward had a tricky delivery. He was back-to-back and was delivered via forceps on 24 October 2015. He started to show signs of stress from a very early age, and we took him to an osteopath who put this down to the forceps / stressed delivery.

At about 5 months of age Edward was starting to do ‘jumps’, which at first we thought were cute, and probably still associated his baby startle reflex. But as the days went on, this startle reflex became a pattern of un-natural jumping movements. His arms would go up, his head would pull down towards his stomach, and his eyeballs would roll up into his head. It looked pretty frightening, to the point at which I told my family he looked epileptic.

They started off as a small cluster of ‘spasms’ – one every few seconds for a period of 1-2 minutes. This ‘cluster’ would happen once every few days at first, but eventually materialised in to multiple clusters every single day.

So naturally, went took him to the doctor, and explained our concerns. In addition to the ‘odd’ spasm movements, Edward was not reaching or grabbing at toys, and at times he was oblivious to what was going on around him – like he could not see. We knew something was very wrong. Unfortunately this doctor reviewed the evidence and told us it looked like ‘normal childhood behaviour’. We knew this didn’t feel right.

A friend of ours is a doctor. Looking at the videos we’d taken, she didn’t know what was wrong with Edward, but she knew it wasn’t ‘normal’. She advised us to go see another doctor, and if they didn’t know, she advised us to ask for a referral…. and that’s exactly what we did.

Despite sharing videos, the second doctor had no idea, so referred us to the hospital. We were initially given an appointment – a number of weeks in the future. But clearly, when the paediatric neurologist read our file notes, he suspected infantile spasms and called us in immediately.

That same day our paediatric neurologist referred us for an immediate EEG, MRI, lumbar puncture and many other blood tests to understand what was going on.

With the combination of hypsarrhythmia (brain wave patterns), infantile spasms and development delay, Edward was easily diagnosed with West Syndrome and started treatment immediately.

Ed went on to sabril / vigabatrin on the 8 June 2016. We started at 900mg sabril / vigabatrin per day (weaned at the end of Jan 2017) and 40mg prenisolone per day (weaned after 5 weeks). He responded very well to treatment – within 24 hours the spasms had stopped.

Edward’s had numerous tests to find a cause of his Infantile Spasms, but nothing has been found – Chromosomes clear and 72 gene panel test (ie. known causes of epilepsy and development delay) clear.

To our surprise, and against everything you read on google, Edward is now walking, socialising and starting to say words. He’s had a physio and portage assessment and has been signed off from both: and we are currently awaiting a speech assessment. We cannot believe how great he is doing.

I know we might not be at the end of our journey, but I trust this gives hope to many more little warriors 💜💜💜much love to you all, and everyone who has helped us along the way 😘

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