Hello, our son is called Arthur and he was born April 2016 (UK).
Arthur is such a wonderful little boy, a total joy for all of us in his life. He is full of energy, loud and funny. He is the most sociable 2 year old I have ever known. He loves to be with people and be involved in children’s games and to be welcomed by other children in play, especially older boys – this makes him light up…us too! He is super cuddly, and “cuddle” and “squeeze” are 2 of his limited words! Arthur chats and chats and chats, but it is mostly babble with very few words, maybe 20 – this can lead to frustration on his part. He loves ALL ball games – obsessed – he is also obsessed with Kung Fu Panda and demands “HIII-YA” be put on the TV at every opportunity. He loves to be outside and investigate his surroundings. He is so proud of himself when he learns a new skill clapping and shouting “YAY”, and is desperately trying to jump. He makes us laugh and smile every day.
At about 1 month old I started noticing Arthur would have very spiky exaggerated startles, but to nothing. I would mention it to the health visitor who would say it was normal. I should mention that I am a children’s nurse at the Evelina London, and although I am a surgical nurse, I share a ward with the neuro team and so I am very aware of the subtleties of seizures – but was also very aware of the potential for nursing paranoia. I continued to watch thinking it didn’t look right. Once he was able to sit in his highchair, around 3 months he would drift off to space a lot, again I mentioned this and was told it was normal, which of course it could have been. Even friends and family thought I was mad.
As Arthur grew he started doing this blinking thing with his eyes and closing them a lot which was odd. He was slow to crawl compared to his friends. When he started crawling he would tumble, like you would expect, but it was just different, sort of jagged and seemed like slow motion. As he got better at crawling, his tumbles were more profound and he was bruised all on his forehead. To me it was just so obvious he was having seizures even if only for 2 seconds. I started filming him and took the footage to work to show a neurologist – he recommended an EEG. I then panicked and felt a bit sick as it was starting to be real. The hoop jumping began – GP referral to paediatrician – paediatrician to opthamologist – follow up opthamologist and discharged – back to paediatrican to insist on EEG – still wasn’t convinced so showed him 3 new videos – EEG booked and done – Epilepsy confirmed the next day – medication started the next day – this all took around 8 months. We then saw our current consultant who manages Arthur’s condition under the guidance of Elaine Hughes at the Evelina – MRI done and clear, Metabolic bloods and urine done and clear, Genetic bloods sent – long wait…….confirmed positive genetic mutation – Seen By Prof Pal at the Evelina – confirmed SLC6A1.
We were sent details of SLC6A1connect and facebook group by Prof Pal and it has been an eye opener, a comfort and a shock. We have presumed Arthur would catch up developmentally with his peers once his seizures were controlled, and now it seems like this may have been naive on our part. His seizures have always been so brief that unless he tumbles, other people have found it hard to understand there is a problem. It is only now his peers are talking in sentences, toilet trained and stable on their feet, the delay is more and more visible.
We hope that treatments improve and that Arthur’s future is as bright as we have always envisaged it.