More Than You Can Imagine: Shedding Light on the Burden of Rare Epilepsies

When we think of epilepsies, the most common thing that comes to mind is seizures. While seizures remain the hallmark symptom of DEEs (Developmental and Epileptic Encephalopathy) such as Dravet syndrome, Lennox-Gastaut syndrome and CDKL5 deficiency disorder, patients live with additional comorbidities that often go unnoticed but which have a profound and multifaceted impact on their lives. These rare conditions are associated with a host of physical, cognitive and behavioral challenges, taking a significant toll not only on individuals but also on caregivers and families, shaping every aspect of their daily lives.

With International Epilepsy Day on 10 February 2025, followed closely by Rare Disease Day on 28 February, themed ‘More than you can imagine’, it’s an opportune time to shine a light on the non-seizure burdens that these conditions are accompanied by, as well as the impact they have on both patients and their loved ones.  

Looking beyond seizures

Dravet syndrome (DS), Lennox-Gastaut syndrome (LGS) and CDKL5 deficiency disorder (CDD) are all rare forms of epilepsy classified as developmental and epileptic encephalopathies (DEEs). Living with these syndromes or conditions is far more complex than managing seizures alone, involving comorbidities that impact cognitive, emotional, and physical well-being. For instance, people with DS often contend with developmental delays, communication difficulties, and mobility issues such as a crouched gait.1 LGS is associated with profound intellectual disabilities and severe behavioural challenges such as aggression or hyperactivity, and CDD can result in musculoskeletal problems like scoliosis, lack of ability to develop speech, and delays or failure to achieve both gross and fine motor skills.

These DEEs don’t end with the individual — they affect the quality of life of families and siblings, caregivers and their broader support system, causing a ripple effect that touches every facet of living.

Anxiety, constant vigilance, chronic sleep disruptions caused by night-time seizures, and the strain of navigating complex healthcare systems can leave families feeling overwhelmed. Caregivers often report high levels of emotional stress and information overload, particularly following diagnosis when their need for specialty healthcare and support is especially high. Furthermore, the unrelenting nature of evolving symptoms, compounded by frequent medical appointments and therapy sessions, can make day-to-day life exhausting and isolating.

Although people’s experiences of living with a DEE will be unique, there are some commonalities that may help to direct future research pursuits. For example, unpredictable seizure activity, irregular sleep patterns and disrupted behavior have all been reported by caregivers as negatively impacting quality of life, leading their loved ones to temporarily lose communication abilities or other activities of daily living. Gaining a better understanding of the disruptive nature of rare epilepsies, and the symptoms that matter most to patients and their families, will help researchers to prioritize areas of scientific focus and improve outcomes.

Working together to address the non-seizure burden 

At UCB, we firmly believe that improving care for people living with epilepsy means addressing both seizure and non-seizure-related outcomes as well as survival of these complex conditions. This requires a holistic approach, with research that expands on current disease understanding, combined with initiatives that promote earlier diagnosis, enhance treatment innovation, and strengthen support systems. Together, we must foster greater recognition of rare epilepsies, prioritizing both medical and non-medical needs to enhance both patient and family outcomes. 

‘More Than You Can Imagine’ – A theme to remember 

The 2025 theme of Rare Disease Day is a timely reminder that while rare conditions like DS, LGS and CDD may be classified under the umbrella of “epilepsy”, their complexities extend far beyond seizures. Recognizing these challenges – and addressing them – could change what is often an overwhelming diagnosis into a life supported by compassionate resources and initiatives.  

We invite you to help us increase understanding of the broader impacts of epilepsy. Whether it’s by engaging with advocacy organizations, supporting caregivers, or simply listening to the experiences of those affected, we can all contribute to building a world where no one feels unsupported in their epilepsy journey. Because when you look beyond seizures, you’ll find stories of resilience, expert voices longing to be heard, and an urgent need to bridge gaps in treatment and care. Together, we can inspire more comprehensive care models that look beyond seizures to encompass the broader spectrum of challenges that rare epilepsy communities face.