BiographySam was born a few weeks early in April 2011 after an eventful pregnancy. He was perfect in every way and we were smitten. Sam was slow to develop and seemed to be later than other babies in reaching milestones such as smiling, holding his head up, etc., but we were assured it was due to his early arrival. At 14 weeks old Sam experienced his first tonic clonic seizure.
By the end of that day Sam was fighting for his life against a seizure that wasn't stopping (a rare, life-threatening complication called status epilepticus). As a result of the Dr's and nurses tireless effort, the seizure finally stopped, Sam endured a battery of tests before being diagnosed with epilepsy the next day. We naively thought that with the right medication our boy would be fine, sadly that wasn't to be and a few weeks later Sams epilepsy evolved into a rare syndrome called infantile spasms, of West Syndrome. Once again, we were plunged headlong into a fire fight for our boys life, as drug after drug after drug failed to gain any control over the seizures. Sam was having upwards of 200 seizures daily, his brain was in constant chaos and his development stopped completely. At 11 months of age, as suddenly as it started, Sams spasms evolved into other seizure forms; the chaos in his brain calmed slightly allowing him to begin to develop again.
Four years, multiple drug trials and a trial of the ketogenic diet later and we are still no closer to controlling Sams seizures. When he was 2 years old an MRI finally gave us a partial answer to why our boy has to fight so hard - he has a rare structural brain abnormality called polymicrogyria (literally many small folds in the brain). It has caused the life-threatening epilepsy he fights daily, in addition to profound global developmental delay (he has the motor skills of a 6 month old child and the social skills of a 3 year old currently), hypotonia (low muscle tone) and severe visual impairment due to the damage wrought by the seizures. Sam is a full time wheelchair user, is unable to speak (yet) and requires help form a carer for all his needs. He is also one of the happiest, most joyful little people I have ever had the privilege of knowing :) Sam smiles all the time, loves life and loves nothing better than being able to go to school and see his friends - he loves to swim and adores animals, especially our cats and dog (who all adore him back!). Its not the life we wanted for our beautiful little boy, but togther with him we're making it the very best it can possibly be.
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