THERE is a gap in patient-centred management of drug-resistant or refractory epilepsy, which means up to 80 000 Australians with this specific form of the disease can be overlooked, remaining undiagnosed or misdiagnosed and not receiving the specialised care they need for decades.

The long and uncertain path for diagnosis and treatment is not for want of trying. People who experience seizures ranging from loss of consciousness to jerking movements or transitory periods of inattention, as many as 20 in a day, do seek medical help. GPs listen, empathise and order tests including CT scans, MRIs and blood tests.

So, why is it so hard to arrive at a diagnosis of refractory epilepsy and embark on a better care journey?

Epilepsy is the world’s most common neurological condition, costing the Australian Government $12.3 billion (2019–2020). It affects up to 250 000 Australians (3–4% of the population is the modest estimate), and once diagnosed, it is often treated with anti-epileptic drugs, which result in seizure freedom. However, about 20–30% of people do not respond to treatment, meaning their seizures remain uncontrolled and persistent. These are the people diagnosed as having refractory epilepsy.

Of surveyed GPs, 88% requested more information on epilepsy, and none had specific neurology training. Further, there are no national guidelines for referral procedures or patient management.

Likewise, there are many testimonials from people who suffer unexplained and disruptive symptoms, such as poor memory, unexplained exhaustion, loss of concentration, recurring déjà vu or loss of consciousness for years without a diagnosis. People of all ages and genders, from all socio-economic backgrounds, can experience epilepsy. While disruptive and life-altering, the condition also comes with a risk of premature death two to three times higher than the general population.

Epilepsy comes in many different forms, from mild to completely life-changing. Seizures may last from seconds to up to 5 minutes, some may be subtle, others severe, disrupting people’s ability to maintain relationships, independence and employment.

A person involved in our study reported:

“Going out for lunch for a bit of a walk and … 4 or 5 hours later on, I discovered that I was at Circular Quay. I had a seizure of some sort.”

Dr Jayne Meyer Tucker recounted that:

“It took over 30 years to find the right medication, with 20 of those years being what I refer to as ‘secret seizures’; ie, not even myself or my doctors realised I was having tonic–clonic (grand mal) seizures.”

For the 80 000 people living with refractory epilepsy, even after diagnosis, seizures cannot be controlled by anti-epileptic drug therapy alone. In this case, epilepsy surgery (resection of the focal part of the epileptogenic lobe of the brain) can be a life-changing procedure for approximately one-third of patients, with an estimated 62% rate of achieving seizure freedom. However, people can wait up to 17 years for surgery.

Our research found that four key factors contributed to the delays:

  1. GPs are ill-equipped to diagnose refractory epilepsy, leading to delays in referring people to a neurologist or tertiary epilepsy centre (TEC). Also, GPs can only refer direct to a TEC if they are in the same local health district, otherwise the referral must come from a neurologist.
  2. People living with refractory epilepsy may not know the treatment options available to them.
  3. People fear surgery as they do not have access to up-to-date and accurate information about the benefits and risks of the procedure, or how it will affect their personal circumstances.
  4. Insufficient shared information between health care professionals lead to missed opportunities for diagnosis and treatment.

While we welcome calls for greater investment in TECs and specialist pathways, it is at the primary and community care level that real change could be enacted. Prioritising a person-focused approach will be the key to greater integration of care and shared decision making between clinicians, people living with epilepsy and families.

Furthermore, if the public lacks understanding of epilepsy, they may not be able to manage their own care or know when to ask for help or seek alternative treatments.

A participant in our study related his experience:

“He [not his regular GP] recognised it immediately, as soon as I said that I was having these butterflies in the stomach type feeling, the déjà vu, he [GP] said that they are all classic signs. I was disappointed that my regular GP, who is attached to that same clinic, was sending me for all these cardiac tests for 12 months and not picking up on those things that I was telling him and not recognising that they were associated with epilepsy.”

Once treatment for epilepsy begins, international guidelines state that if seizure freedom is not achieved after trialling two anti-epileptic drugs, then a diagnosis of refractory epilepsy is appropriate. Only 35% of GPs in our study were aware of this definition, illustrating a contributing factor in the delay of between 1 and 4 years for diagnosis.

Eventually people with diagnosed refractory epilepsy will most likely end up under the care of a neurologist in the community or in a TEC. Ideally, this should be a shared-care arrangement; however, after years of uncertainty, patients are often unwilling to revert to community and primary care practitioners for ongoing epilepsy care. Neurologists, on the other hand, view GPs as the primary health care provider.

This gap in patient-centred management leads to breakdowns in communication and system bottlenecks. After all, there are only a limited number of TECs in Australia and around 550 neurologists, 93% of whom are located in metropolitan areas.

In order to improve care and reduce delays, a patient-centred approach across primary, community and tertiary sectors is essential, along with the development and implementation of clinical practice guidelines, referral pathways, knowledge sharing between health care professionals and continuing professional development. Add in community education and people will be more empowered to share decisions.

Frances Rapport is Professor of Health Implementation Science at the Australian Institute of Health Innovation, Macquarie University, Sydney, and Academic Lead of MD Research at Macquarie University. She holds an Honorary Chair in Qualitative Health Research at Swansea University and Visiting Professorships in Norway and Bournemouth, previously Harvard and Texas. Her research in refractory epilepsy has led to the development of a new care model to underpin improvements in service delivery. Professor Rapport writes extensively on the topic of qualitative research methods and chronic conditions. 

Geoffrey Herkes is Senior Staff Specialist in Neurology at Royal North Shore Hospital, Sydney, Clinical Associate Professor at the University of Sydney and Director of Research and Head, Division Medicine at Sydney Adventist Hospital. Associate Professor Herkes’ major interests and active projects involve status epilepticus, prolonged neurophysiological monitoring in the intensive care unit, new pharmaceuticals, ethics in medicine, and medical law, as well as clinical trials in stroke, epilepsy and multiple sclerosis. He has been an investigator in over 60 clinical trials.

Karen Hutchinson is a Postdoctoral Research Fellow with the Australian Institute of Health Innovation at Macquarie University, Sydney. Dr Hutchinson is also a Physiotherapist with many years of clinical experience working with adults living with complex and chronic neurological conditions and their families. Her current research is exploring the experiences of families living with refractory (drug-resistant) epilepsy, and the roles and responsibilities of epilepsy nurses in Australia to inform service development.



The statements or opinions expressed in this article reflect the views of the authors and do not represent the official policy of the AMA, the MJA or InSight+ unless so stated.

2 thoughts on “Drug-resistant epilepsy: overlooked and underdiagnosed

  1. Karen Hutchinson says:

    Thank you for your comment.
    This study and others in progress now are looking at how to improve the healthcare pathways for people with refractory epilepsy, we did not look at therapeutics. We are however looking at how to improve people’s knowledge of the disease itself and the treatments available, so people are empowered to share in decision making with their clinician.

  2. Dr Andrew Katelaris MD says:

    An article on refractory epilepsy and no mention of medical cannabis. How serious are you about helping these patients
    It is very difficult getting video EEG testing for such a disruptive condition.
    Why is that?

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