Holistic approach key to managing rare epilepsy syndromes

Neurological disorders like epilepsy can have significant, life-altering implications for patients, their families and caregivers.

People who are affected by rare and severe epilepsy syndromes, such as Dravet syndrome, Lennox-Gastaut syndrome (LGS) and tuberous sclerosis complex (TSC), may experience a long road to diagnosis, with some even reaching adulthood before accurately identifying their specific condition.

Even when a diagnosis is confirmed, it takes careful balancing to find an appropriate treatment that fits the lifestyle, needs and wants of a patient. Given the complexity of epilepsy syndromes — in addition to the challenges experienced with the condition — a holistic approach is essential to ensure patients receive a management plan that is best suited for their personal health and overall quality of life.

Diagnosing epilepsy syndromes

When it comes to diagnosing epilepsy syndromes, many factors must be considered. There is no definitive way to diagnose LGS, as symptoms can overlap with other epilepsies, present differently in each individual and even change over time. TSC can also have highly variable presentations.

While genetic testing can be helpful, it is often not definitive. Generally, diagnosis of these conditions is based on a constellation of symptoms. Knowing that each patient will live with the condition in a unique manner, management and treatment plans need to be individualized for each patient to ensure the best outcome.

A separate aspect of the diagnostic process is the frequency and clinical severity of the seizures. Although all seizures are serious and unwanted, it is important to stratify different clinical seizure categories and decide which seizure subtype is the most harmful for the patient within their lifestyle. Although complete control of seizures should be the ultimate goal for anyone with epilepsy, in many cases it is not realistic to control all seizures without compromising some sort of function in the patient.

With a holistic perspective, we look at patients as a whole — including their overall syndrome symptomatology — not just the elements of the epilepsy. This approach provides an avenue to focus on managing the priority seizure subtypes, with the intention that it will allow the patient to achieve balance of living a comfortable and enjoyable life between their seizures.

Related conditions, treatment advances

In most cases, people living with rare epilepsy syndromes are also affected by other medical conditions associated with the syndrome, such as heart disease, kidney disease, liver disease, behavioral problems and developmental disability. Thus, it is critical to choose a medical intervention that does not interfere with the management of those conditions.

Lawrence Seiden

For example, if a patient has liver problems, we need to ensure the medication and treatment plan will not exacerbate the liver disease and ultimately make it more difficult to control their conditions and, in turn, diminish their overall health.

Fortunately, in recent years, many treatment advancements have been made for people with rare epilepsy syndromes. In the past, patients with rare epilepsies were excluded from studies on many medications that were brought to market, due to the complexity of these conditions; now we have access to supportive data and niche products that have been thoroughly studied in this population. In addition to pharmaceutical treatments, there is a range of innovative surgical options that offer a less invasive yet well-tolerated alternative for patients to access as well.

Whether it is through a pharmaceutical approach, a surgical approach or a combination of the two, these recent advancements provide a wide variety of options to choose from, which allow physicians to develop tailored treatment plans that will hopefully bring patients relief from their seizures and disease symptoms.

Consider the caregiver

Finally, it is important to understand that most patients rely on caregivers for assistance with activities in their daily lives. When developing a patient’s management plan, it is valuable to consider the caregivers as well.

For example, I commonly work with adults who go into adult day programs; however, when they need to administer medicines in the middle of the day, there is a lot of time and effort involved, especially when the medication is a controlled substance. This can cause a lot of distress, so keeping the caregiving situation in mind will ensure the management plan is successful.

Balance life, seizures

Epilepsy syndromes are complex and lifelong conditions. While the hope is to limit seizures as much as possible, it can be equally as important to help patients achieve a comfortable and enjoyable life between the seizures. We must consider the patient’s overall well-being and not just their seizures.

Using a holistic approach, we can offer an improved management plan that provides high-quality care that is also specific to the needs and wants of patients, their caregivers and their families.

For more information:

Lawrence Seiden, MD, is a neurologist and epileptologist at the Atlanta Neuroscience Institute (formerly the MS Center of Atlanta). He is fellowship-trained in clinical neurophysiology and epilepsy and is actively engaged in clinical management of adults with epilepsy.