Jackson Air 5th Birthday Fundraiser

Our family has been impacted by Epilepsy in two different forms of Epilepsy.

When my mother was born, she suffered from severe head exposure from complications from birth, she was diagnosed with Epilepsy at the age of 15. The reason for her long diagnosis was She began to have Grand Mal seizures (Generalised Tonic-Clonic seizures) and absent seizures (staring off for a few minutes at a time), throughout her teenage years. At the age of 14, she suffered from her first Grand Mal seizure (prolonged seizure.) Many more seizures followed within the next few years. She achieved through school and sporting achievements. But she suffered from many prolonged seizures which she had to be hospitalised on many occasions. She suffered with anxiety and embarrassment, due to her condition. She had suffered 4 seizures in one day. She suffered a few miscarriages due to her condition, which was put down to one of her medications she was taking then, was draining necessary vitamins in which were needed for healthy foetal development. When she going through menopause, she had a Grand Mal seizure which resulted in dislocation of both shoulders and fractured one requiring surgery, which she had to have months of rehabilitation. She is currently containing her seizures with antiepileptic medications, but had to change them on numerous occasions to get the correct dosage and medication to control the seizures. She cannot operate heavy machinery, work from heights or be near flickering lights. So, this has affected her working life and to be able to drive a vehicle.

Our niece, who is aged 3 years, has been diagnosed with Dravet syndrome (also known as Severe Myoclonic Epilepsy of infancy), a rare form of Epilepsy, which has a mutation of the SCN1A gene, and are triggered prolonged seizures by high body temperature (hyperthermia), developmental delays, speech impairment, ataxia, hypotonia, and sleep disturbances. Current treatment options are limited, and the constant care required for someone suffering from Dravet Syndrome, can severely impact the patient and the patient’s family quality of life. She is currently taking a few different anti-epileptic drug therapies. She has a specially designed mattress from the United States, which allows her parents to know when a seizure has been present throughout sleep. She also has a speech pathologist once a week for her delayed speech and language delays. A Occupational therapist comes out to the home once a week to assist in her movement and balance issues. She cannot regulate her own body temperature. Textures, patterns or even, colours, can set her to have a seizure, so keeping her away from all these things is very difficult for the family. The family has recently started within the past few months, a KETOGENIC diet, which her family must weigh all foods, as she is only allowed a certain amount of a particular food group. The diet focuses on healthful fats, adequate amounts of protein and very low carbs. The family is currently looking for more ways to help their little girl.

Current treatment options are limited for this rare form of Epilepsy, and constant care is required. Research for a cure offers patients and families hope for a better quality of life for their loved ones and themselves.