The story of Kady
Roman was diagnosed with Kcnt1 genetic seizure disorder or malignant seizures of infancy at 2 months old- he developed normal up to that point was making facial expressions, head control etc, then was having over 100 seizures a day in the ICU that could only be broken by IV meds in order to sleep for an hour. He is now 10 months old- has better seizure control but the cause of his seizures is a genetic (not passed from parents) mutation that causes his potassium channels to form wrong- causing extra energy and seizures- in patterns that can happen in every section of his brain making learning very difficult to occur- currently on 150 cases worldwide and around 9 with his exact mutation. The gene itself may cause severe delay- most kids cannot get seizure control as it is terminal, need tube feedings, etc. Roman drinks a bottle but we haven’t seen a smile or heard any words since this started- no one understands they think it’s just epilepsy but it’s not- it is heartbreaking that his brain is so overcome by this mutation- at times it feels any other disease would be better because we can’t break through this wall- he’s just always struggling, it’s heartbreaking to have such an uncertain future- we just want a smile.Â