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Aiden, and his twin brother Logan, was born in the US in 2005. They were much wanted IVF babies and were a blessing (and a handful) from day one. They were born at 37 weeks after a healthy pregnancy with zero complications and no need for the NICU. Logan has no medical issues at all.
When Aiden was about 9 months to a year old, we started to notice his eyes roll back as if he was going to pass out but then a few seconds later he was back to normal. We took him to a pediatric neurologist who confirmed he had absence seizures, most likely growing out of them before 8-10 years.
We moved back to Scotland when he was around 4 and continued to treat his absences. By the time he started primary school it was evident that he had speech and some learning delays, stimming habits, along with hypermobility and a bone age delay of about 4-5 years. We attended regular therapies and he was given additional support at school.
When he reached 5 his neuro decided he’d outgrown his absences although the learning delays etc. remained a concern. He was weaned off all medication and seemed fine. Almost a year later he was playing with his brother and banged his head. We had to walk home and as soon as he was outside his eyes were rolling towards the sky, almost constantly. I panicked and took him to the ER. They confirmed he was okay but completely dismissed the eye rolling, deciding over the next few weeks that it was purely a coincidence with timing of seizures returning and the bump to head. The eye rolling continued, gradually worsening over time.
Around the same time we moved and assigned a new neuro who over time decided his nee seizures were Eyelid Myoclonia with Absences. We tried all available AEDs without any success. We bought expensive Zeuss Z1 cobalt blue lenses, tried the ketogenic diet and still nothing helped. Eventually in around 2015 we were directed to a research project which was looking at gene mutations in epilepsy. Our results came back as Aiden having the CHD2 gene mutation (de novo). From this we also learned that his epilepsy was Jeavons Syndrome.
Since then, Aiden has also had a VNS fitted (almost 3 years ago) which has had no success at all and exhausted all forms of prescription AEDs. We tried CBD oil (zero THC) which helped a lot with AED side effects but not the actual seizures themselves. In 2019 we removed all AEDs and went with CBD alone. A few months later (at almost 14 years) Aiden had his first tonic clonic seizure, stopped breathing and turned blue. It was the most scary experience and one that I still have flashbacks to. He was admitted to hospital overnight and put on another AED for the tonic clonics.
I fought hard to allow Aiden the chance to try a medical cannabis based product in the UK but that caused horrendous side effects and landed him in the ER three times in two days. We are still fighting for the chance of Aiden being prescribed full medical cannabis (CBD with THC) but although rules allow it in the UK we still can’t actually get it.
Currently, Aiden is now 15 (16 in the summer) and has undergone a year of testosterone therapy to try catching up with his growth, however he is still small for his age, due to a bone-age delay, associated with the CHD2. His learning has regressed again (2nd time) due to side effects of AEDs and it effects his math abilities the most. His short term memory is poor and his seizures are upwards of 200-300 per day. At times, when outside, his seizures are at the status stage and he struggles with bright daylight and sunshine.
We fight on for anything that will help him lead a happy and safe life. He’s a happy boy who doesn’t let his epilepsy or delays affect his temperament at all. He loves school and is a very social lad who is constantly happy and excited with life. He will require constant and continual support and supervision and his future work and independence opportunities will be limited unless something changes.
It’s a constant worry but he’s a true joy and I’m extremely proud of the young man he’s become. Here’s hoping this research can find a cure, options and more hope.
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