“As research in this area continues, genetic testing could potentially help people with epilepsy and their families prepare for their treatment journey,” Sonya Dumanis PhD, Director of the Epilepsy Innovation Institute under the aegis of Epilepsy Foundation, and author of “The Epilepsies – Imagining Our Future”.
As the world celebrates International Epilepsy Day, This Week News probes into this much dreaded condition affecting more than 60 million people around the world. A lot of effort is still required in an endeavour to reduce the stigma and discrimination faced by those living with epilepsy.
Initially recognized as “a disorder of the brain characterized by an enduring predisposition to generate epileptic seizures”, epilepsy is now called “a disease, rather than a disorder” following a decision of the Executive Committees of the ILAE and the International Bureau for Epilepsy in April 2014. These agencies believe that “the word “disease” better connotes the seriousness of epilepsy to the public”.
When we talk about epilepsy the main area of concern is its therapy, that is, treatment that aims at relieving or alleviating this “disease” of the brain. There’s no definite cure for epilepsy, although it would seem marijuana oil is an effective cure for seizures, especially in children as announced by the American Epilepsy Society (AES) based on a recent study it supervised. The Independent, in a recent article, reported that “an11-year-old boy who was dying from severe epilepsy has not had any seizures for 300 days since being prescribed a medical marijuana product. He was the first person to receive a prescription for medical marijuana in the UK”.
According to the Epilepsy Foundation of America, several laboratory studies and small clinical studies have been carried for a number of years now. These suggest that cannabidiol, a non-psychoactive ingredient of cannabis, could potentially help in controlling seizures. The side effects of such treatment include sleepiness, diarrhea, fatigue, loss of appetite and interactions with some medications.
Despite important clues on the positive effects, the use of cannabidiol is still the subject of debate among scientists, marijuana or cannabis being not legally accessible in most parts of the world.
The “first trial of a genetic therapy in epilepsy” is in the pipeline thanks to the joint efforts of Epilepsy Foundation (a non-profit organization based in Maryland, USA dedicated to the welfare of people with epilepsy and seizure disorders, and comprising renowned experts in a wide range of disciplines in the field of epilepsy treatment and research), and Epilepsy Therapy Project in USA.
Based on results of tests on animals, gene therapy is viewed as a promising new approach for the treatment of epilepsy. Gene therapy has traditionally been defined as “an approach to replace the defective copy of a gene with a functional copy and restore normal function of a cell population”.
According to reports published in Epilepsia, the official Journal of the ILAE, “apart from a sustained anticonvulsant effect, this therapy aims at obtaining an antiepileptogenic effect that will block the progression of the disease and maintain focalization of the epileptic zone. It allows specific targeting of the epileptogenic region and is ideal in case of idiopathic epilepsies, or epilepsies of genetic origin.”
“As research in this area continues, genetic testing could potentially help people with epilepsy and their families prepare for their treatment journey. We are only scratching the surface of what could be possible. Genetics allows us to imagine a path towards customized treatment. That, in and of itself, is a game changer,” says Sonya Dumanis PhD.
Research is still on going towards a possible definitive cure. What can only be done at this stage is to keep the condition under check through medication and other treatment strategies.
In the Republic of Mauritius, Edycs Epilepsy Group is the sole specialized non-governmental organization working to “promote lifelong access and opportunities for persons suffering from epilepsy and their families to be fully included and become participating members in the community”.
Supported by various specialists in the field, Edycs is struggling hard to implement a number of programmes and strategies to come to the aid of those affected by epilepsy. Through psychological and social counseling, education, training and advocacy to patients and their families it assists in providing the necessary framework support to therapy with regard to medication and relevant treatment possibilities.
At the moment it’s all about “therapy” and “treatment” or “treatment journey”; not really“cure” yet, which still remains a farsighted objective.
Epileptic patients are those who have two or more unprovoked recurrent seizures. Epilepsy, also known as a seizure disorder, is one of the most common conditions affecting the brain. It is a neurological condition that triggers unpredictable seizures affecting various mental and physical functions.
Epilepsy, derived from the Greek word “epilambanien” meaning “taken by surprise”, is not contagious. It cannot be transmitted from one person to another. Anyone at any time of their life can develop epilepsy.
According to the Epilepsy Foundation 65 million people around the world have epilepsy. In Mauritius the EDYCS Epilepsy group estimates the number to be around 20000, with some 2000 in Rodrigues. Exact figures cannot be ascertained as not all cases are reported.
In about 60% of cases the cause is unknown. It is thought that there is a genetic cause classified as idiopathic epilepsy. The rest is categorized as symptomatic, where a cause is found, like: head injury, scarring as a result of an infection of the brain (like meningitis which affects the membranes covering the brain – the meninges; encephalitis – a virus affecting brain tissues; brain abscesses), stroke or brain haemorrhage; brain tumours or structural abnormalities – brain not developed properly in the womb or damage caused during birth; birth mark on the brain, or cryptogenic, where there is no apparent cause but structural or developmental disorders are suspected.
Epilepsy can simply go away, called spontaneous remission, usually in children reaching puberty. Some children just grow out of their epilepsy, usually by the age of 15 or 16, after which they will no longer have seizures.
Most of the time seizures can be controlled successfully through various strategies – medication, psychological and medical counseling, physiotherapy, neurotherapy, massage therapy, and social and environmental support, to name but a few.
Antiepileptic drugs are usually administered after appropriate diagnosis to keep seizures under control. These can be discontinued if the patients have been seizure-free for two or more years and they are not experiencing symptoms anymore. This doesn’t however pre-empt their complete recovery.
According to the ILAE, “Epilepsy is considered to be resolved for individuals who either had an age-dependent epilepsy syndrome but are now past the applicable age or who have remained seizure-free for the last 10 years and off anti-seizure medicines for at least the last 5 years. “Resolved” is not necessarily identical to the conventional view of “remission or “cure.” Being resolved does not guarantee that epilepsy will not return, but it means the chances are small and the person has a right to consider that she or he is free from epilepsy.”
The taboo associated with epilepsy makes the sufferers’ condition worse. Some social beliefs discriminate the person as being cursed or possessed by demons in view of the primitive nature of epilepsy. This is quite a hurdle for them. It’s the root cause of most of their problems, exposing them to increased risk of poor self-esteem, anxiety, depression, and even suicidal tendencies. They tend to be in a perpetual state of distress and unwanted psychological and mental disturbances.
Epileptic sufferers tend to withdraw within themselves. They feel isolated. In view of the unpredictability of seizures, they have to bear societal scorn. They are subjected to a number of roadblocks in getting access to education and employment opportunities and the ability to drive and hold a driving license. This greatly hampers their level of independence. Surgery is contemplated only where medical treatment does not give the desired results.
There is still a long way ahead; despite all the efforts to empower epileptic patients with a view to giving them hope, confidence and more independence and freedom in their day to day activities.
With regard to disability benefits accruing to epileptic patients, it’s not an easy task to determine their degree of disablement. According to Mr Yousouf Noormamode, CSK, President of Edycs Epilepsy Group based in Port Louis, “Proper diagnosis based on criteria or protocol specific to epilepsy, needs to be done before coming to a conclusion with regard to a patient, as is the case in other countries, in order to ascertain the degree of disablement of the epileptic patients concerned.”
He went further to say that “epileptic patients may not have a visible physical handicap but the ensuing psychological and mental issues have a definite impact on their degree of disablement, which is not an easy task to quantify.”
As much as health, as defined by the World Health Organisation, is “a state of complete physical, mental, and social well-being and not merely the absence of disease or infirmity”, it is important to resort to a holistic approach for a proper assessment of the state of disablement of epileptic patients.
Mr. Y. Noormamode, who is also chairman of the International Bureau of Epilepsy, Africa Region, is of the opinion that: “Any decision with regard to a patient needs to be taken on a case to case basis taking into consideration which medicine they are taking, the dosage, any possible side effects, and the related impact and consequences of the condition on the individual suffering from epilepsy, their family and their immediate neighbourhood.”
Only a doctor with specialist training in epilepsy can make a proper diagnosis of epilepsy and prescribe appropriate treatment and medication, after interpreting pertinent information from a variety of tests, including electroencephalograms (EEGs) – recording of brain activity, and brain scans, among others. It is primordial for him to get to know what happens before, during and after seizures. He might also have to speak to people around the patient who have seen their seizures.
If well developed nations are still on the lookout for improved treatment methods we, with precarious resources at hand, need to wait further for adequate and conclusive advancement in this field before we can safely say there’s a definite positive solution to the fate of epileptic patients.
Researchers are relying a lot on genetic therapy to provide clues towards this end. Side by side if the beneficial effect of marijuana oil happens to be confirmed as a cure it will be another milestone in restoring hope for the millions of people living with this condition. Until then epileptic patients will have to bear with available therapies in alleviating, to the extent possible, their sufferings that only they can comprehend.
Amanoola Khayrattee has been at the service of the Epilepsy Centre in Rodrigues for four years. In 2013 he won the Professional Volunteer Award for his exemplary professional contribution and dedicated support to the management of the centre under the aegis of Edycs Epilepsy Group.