Any patient suffering from new or worsening medical symptoms hopes for a relatively quick and accurate diagnosis.
However, for many people with episodic disabilities — periodic or intermittent conditions like migraines, lupus, Crohn’s disease and epilepsy, in which the presence and severity of symptoms fluctuate — a swift diagnosis is not guaranteed.
New research from Michigan State University focuses on diagnostic delays experienced by people with one such condition: epilepsy, a neurological disorder characterized by unpredictable seizures that affects over 3 million people in the United States and 50 million worldwide.
“Epilepsy has different symptoms that come and go, which makes it hard for doctors to identify using regular screening tools. People from low-income backgrounds and those whose seizures don’t show up on these tools often face the longest delays,” said Megh Marathe, an assistant professor in the MSU colleges of Communication Arts and Sciences and Human Medicine. “Without a diagnosis, these individuals may not get the treatment, support, benefits or understanding they need to make sense of their situation.”
Marathe’s research, published in Disability Studies Quarterly, draws upon 15 months of interviews with 25 people with epilepsy and 36 medical practitioners in a large research hospital in the Midwest. Of those with epilepsy, 52% experienced a delayed diagnosis, waiting several months and up to 5 years for official confirmation, while 48% experienced a quick diagnosis, within days of their first seizure.
Marathe analyzed these two forms of diagnosis using a narrative structure:
- Quick diagnoses resembled progress narratives, with each step advancing participants to a formal diagnosis of epilepsy. These participants typically had clinicians as close social relations, the ability to access specialty care, and others had witnessed their seizures.
- Delayed diagnoses resembled cyclical narratives, in which participants were stuck in cycles of unresolved symptoms and unhelpful medical encounters until chance and/or advocacy led to diagnoses. These participants often sought care in generalist settings, had normal routine testing results, and experienced long-lasting medical confusion due to nontypical symptoms.
“The pace of diagnosis may depend, in part, on the seizing person’s life circumstances, sociocultural biases associated with their race, sites at which they can access care, and routine testing results,” Marathe said.
EEG tests, which help visualize the brain’s activity in continuous waveforms, are the primary form of screening for epilepsy. And while they can help to confirm a diagnosis, the timing of the test — and its duration — can make all the difference.
“Abnormal EEGs indicate seizures and epilepsy, but normal EEGs don’t rule them out,” Marathe said. “People with epilepsy can have normal brain activity outside seizures and might not have a seizure during the 20-40 minutes typical of the routine EEG test. In addition, EEGs may not detect seizures deep in the brain due to the skull’s shielding and smoothing effect.”
People experiencing seizures for the first time typically visit generalist health care settings, such as primary and emergency care, because specialty care often presents barriers like longer waits for appointments, higher costs, and distance and transportation challenges. Unfortunately, generalist medical practitioners have much less training and exposure to epilepsy than specialists and can only order short, routine EEGs that often fail to detect signs of epilepsy in 41%-68% of people known to have the condition.
“Generalist medical practitioners receive limited training and exposure to epilepsy. Most are trained to recognize generalized and convulsive seizures: obvious signs of the condition. However, participants reported that generalist practitioners did not recognize nontypical seizures and indirect signs of epilepsy,” Marathe said.
Of people with epilepsy, 36%-65% have nontypical seizures with symptoms that aren’t always visible or commonly associated with epilepsy and can include abrupt and involuntary changes in emotion, cognition and sensation; autonomic function (like nausea or respiratory sensations); and bodily movement (e.g., tensing, slackening or suspension of activity in part of or all the body).
Despite the failure rate of routine EEGs, participants reported that when their EEG results were normal, generalist practitioners ruled out epilepsy and sent them home without a diagnosis — or misdiagnosed them with another condition, contributing to the cyclical narrative.
“Participants with delayed diagnoses remained stuck in cycles of unresolved symptoms, normal routine EEGs and frustrating medical encounters,” Marathe said. “In each case, participants obtained an epilepsy diagnosis after months of worsening symptoms, with self-advocacy and chance leading them to physicians who attended to indirect and implied signifiers of epilepsy. Participants from low-income backgrounds were especially acceptable to this sustained denial of recognition.”
For people whose seizures occur in the presence of others or during medical testing and are able to access specialty care, diagnosis is often straightforward. Delays typically occur when clinical practitioners fail to recognize seizures due to norms in medical education and practice or as a result of the lack of specialized knowledge in primary and emergency care.
“In episodic disabilities, the fleeting and unpredictable quality of symptoms complicates diagnosis, and the pace and duration of diagnostic journeys varies for differently situated people,” Marathe said.
Episodic disabilities present a problem to how medical signs and symptoms are currently analyzed, resulting in a complex signifying mechanism, argued Marathe. Practitioners should be trained not only to recognize visible signs, but to analyze the underlying and invisible basis for conditions like epilepsy and take demographic and socioeconomic factors into account.
“When diagnosing epilepsy, practitioners should attend to the confluence of class, race, gender, age, access to health care and social support that can all have impacts on how long it takes for a person to obtain a diagnosis,” Marathe said. “Physicians must keep the limited accuracy of screening tests in mind, and look beyond test results and pay attention to relevant nuances of patient history”
