The complexity of epilepsy - an overview
My name is Charles1, and I'm both a Genome Scientist2 and the Patient Advocacy & Engagement Lead at Congenica3, Cambridge4, UK. I have two wonderful children who have severe disabilities - one of whom has experienced a rare epilepsy. Here I write about what it’s like for me as a dad and being able to see things from both the personal and professional side.
Favourite music: Classical and jazz. I'm a trained classical musician, playing violin, piano, and church organ. I also sing.
Favourite book: The "Ben Hope" Series by Scott Mariani5.
Favourite film: "Where Eagles Dare" - Directed by Brian G. Hutton6.
In the beginning
As a genome scientist I have spent my career working on the human genome7. I am also the parent of two young children who were born at 28 weeks (my son) and 30 weeks (my daughter). My daughter spent a month in an intensive care unit while my son was on intensive care for two months. Unfortunately, they both suffered brain damage during birth and have severe cerebral palsy8. My daughter also developed a rare and catastrophic form of epilepsy at 8 months, called West syndrome, or infantile spasms9. Both of my children have had extensive investigations into their genetic makeup to see if there may be a cause for their challenges, but as yet, nothing has been found. Since then, I have devoted my time and career to understanding more about why our genomes can be responsible for such terrible disorders.
To my shame, I was deeply ignorant about epilepsy before I was affected by it directly. When reading up about my daughter's epilepsy and epilepsy in general, it quickly became clear to me that it is an extremely challenging and complex disorder with a huge number of causes and seizure types. This means, for a neurologist, making a diagnosis for a patient can be extremely challenging. For example, causes can range from trauma at any time during life, tumours, infections such as meningitis10, through to many genetic factors10 and conditions such as neurofibromatosis11, tuberous sclerosis9 and Dravet syndrome9. In the mid-70s, most epilepsies were categorized as unknown, or ‘idiopathic’11, although the term idiopathic is no longer used. In many ways, idiopathic masked the fact that clinicians11 did not know what the causes were, providing an incorrect reassurance to patients that a diagnosis had been made. However, more recently, technological advances with Magnetic Resonance Imaging (MRI)12, have allowed neurologists to view the brain at a much greater resolution, identifying damaged tissue that causes epilepsy that was not previously identifiable.
Epilepsy can also co-occur with other disorders13 comorbidities11, which can be grouped into two broad categories. Firstly, those that are a presumed result of epilepsy, such as developmental delay, intellectual disability8 and autism8. Secondly, those that are presumed to cause epilepsy such as neurological malformations that people are born with (congenital malformations11) and cerebral palsy. Some childhood epilepsies are so rare that many non-epilepsy specialist medics, such as GPs, may not come across these presentations in their whole career and understandably, will not be familiar with the symptoms. For example, paediatric epilepsies are sometimes misdiagnosed as gastrointestinal disorders14, which is ultimately a result of them being such rare disorders.
Epilepsy, therefore, places a great strain on healthcare providers. For example, the UK’s National Health Service (NHS)11 spends in excess of £1.5 billion a year on epilepsy and it is second only to stroke as the most common neurological disorder. According to a study by Beghi et al(2016)20. in 2010, the total annual cost for epilepsy in the EU was €13.8 billion, where the total cost per patient was €5221. This could be broken down by direct medical costs (€2461), direct non-medical costs (€625) and indirect costs (€2136). Direct costs of epilepsy are even higher in the United States where, in the general epilepsy population, total healthcare costs per person range from $10,192 to $47,862 and epilepsy-specific costs range from $1022 to $19,749. The total cost of epilepsy in the United States is currently estimated to be $15.5 billion a year. Epilepsy can have a profound effect on a patient’s outcome in life. In infants, uncontrolled seizures in the developing brain can cause developmental regression and, in some cases, early death, for example, as seen in Ohtahara syndrome9 or West syndrome9. In the UK, there are around 1000 deaths per year as a result of epilepsy of which 42% are potentially preventable. Causes can include status epilepticus, accidents, drowning, unintentional injuries, and suicide21. Furthermore, anyone with epilepsy has a very small but raised risk of Sudden Unexpected Death in EPilepsy (SUDEP)22. SUDEP is the most common cause of epilepsy-related deaths and individuals with epilepsy have 27-fold higher rates of sudden death than individuals without epilepsy. However, this risk varies greatly between different patients. For example, in many children the risk is almost the same as for children without epilepsy. It is therefore important to discuss individual cases with the caring specialist such as a neuropsychiatrist.
The psychosocial consequences of epilepsy23 are often more problematic than the seizures themselves. Concerns that commonly arise for patients and families include death, mental healthcare issues, friendships, relationships, reproductive issues, parenting, accidental injury and schooling, partly due to problems with learning. The lack of predictability of seizures in people with uncontrolled epilepsy is a major cause of loss of self-esteem and confidence. Patients with epilepsy are more likely to have vascular and auto-immune problems and cancers, possibly due to life-style choices such as smoking, being overweight or high cholesterol. There is also a tendency for ‘overprotection’ and ‘overdependency’ by parents as a result of guilt and a fear of their child being more susceptible to danger. Even as little as 20 years ago, a diagnosis of epilepsy would result in people leading their lives in isolation. In the past, a clinical diagnosis for a patient could mean an overwhelming, lonely and isolated life, unlikely to connect with people with a similar condition. However, the internet and social media now mean it is possible for many more patients and their families to connect with other people with similar disorders, meaning that families with the same condition can draw strength from each other, raise awareness of their disorder and ultimately drive research and therapy.
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