Scott’s Superhero Story

Scott’s story started in much the same way as most of his fellow Superheroes. He started to seize within a couple of hours of being born and was transferred soon after to the neonatal intensive care unit where he spent the first week of his life. That was followed by 4 subsequent admissions to the intensive care unit over the next few years and multiple hospital admissions (such that he has 5 volumes of hospital notes stored at the Children’s Hospital). What seemed to be endless daily seizures and multiple trials of various drugs, nothing seemed to work. By the age of about 7 his condition had stabilized enough that we felt safe enough to embark on family holidays with him and our daughter (albeit with resuscitation equipment, emergency medication, and oxygen). At this point his seizures settled and would only occur when he became febrile right up until 2019 at the age of 23 when he had his first afebrile tonic/clonic seizure in 16 years. This, of course, occurred at the worst possible time and place, in the back of a car on 108 degree day when his father had just returned from the hospital after having a hip replacement. This meant I had to singularly pull him out of the car, whilst he continued to seize, and get the neighbours (who I had never met) to help me transfer him inside and onto his bed in the cool (I think one of the neighbours is still suffering PTSD from the incident).

It was this deterioration in his condition which prompted us to further explore his diagnosis. Scott had had genetic testing as a child which had shown nothing but we were concerned at this point about the deterioration and what this meant prognostically, so over the next few years he had multiple investigations including, obviously, genetic testing, a normal MRI, and an EEG that the neurologist reported as the ‘hardest he had ever had to read in his life’ and in 2022, when Scott was 26 years old, he was diagnosed with SLC13A5. The good news is that after modification of his medication, his epilepsy has settled again such that he has been seizure free for the last 15 months.

There have been many challenges over the years. In the early years this was related to seizure control but recently it has been in regard to dealing with some of his behaviours as he himself deals with the frustrations of being non-verbal, obsessive, and stuck on thoughts in his head that we can neither understand or, at times, understand but be unable to deal with. And although Scott’s movement disorder is such that he can’t actually run, he can walk so fast when he has a mission in his mind, that he has managed to ‘lose’ his carers recently on more than one occasion.

These challenges, however, are offset by the many positives he brings. Scott has always been endlessly happy and has a sense of humour matched by few. He laughs at funny things, he laughs at sad things, he laughs when he is in pain and he laughs when you are in pain. In fact, so developed is his laughing capacity, that one of his seizures as a baby manifested as him laughing for 15 minutes (a gelastic seizure). The things that make him most happy, however, are his cat Simba, his Sister Sophie, his friend Big Soph, and dancing… with his biggest joy of all being when he is the centre of attention.

Scott has brought and taught us as many things over the years. He has brought us tears and he has brought us laughs. He has taught us compassion and resilience. We have lost friends and gained friends because of him but most of all the journey has made us better people.