Not all diagnoses for the epilepsies are arrived at via a definitive test, a good example being Lennox Gastaut Syndrome (LGS) which is given as a ‘clinical diagnosis’ when a person displays a predefined collection of symptoms. But this collection of symptoms can be subjective, open to different interpretations by different doctors in different countries and has changed over time – so someone who received their diagnosis 20 or more years ago may/may not fit the criteria for a clinical diagnosis today. With improved diagnostics we can now potentially identify the underlying cause for someone’s LGS, so the LGS becomes a secondary diagnosis. And this is significant because…as previously stated a diagnosis for your epilepsy can influence treatment options, access to research or clinical trials which could change your life. Or not, as a more specific diagnosis that would previously have been categorised clinically as LGS, may preclude access – so we have a double-edged sword.

We are entering a new phase of discovery with the advent of the Epilepsy Research Institute and recent additional UK government funding for research which brings hope for the future. With the diversity of the epilepsies there is a huge mountain to navigate but we will never find the answers if we don’t try. We are now seeing advances towards so called ‘precision medicine’ with emerging gene therapies for some epilepsies.

I hope you can see that with many different underlying causes for epilepsy, we need many different therapeutic approaches.

Advancing scientific discovery into the underlying causes of the epilepsies
will help us to find better treatments in the future.

Most epilepsies start either in childhood or in older age. A group of the epilepsies are referred to as childhood epilepsies, which can be misleading, suggesting they only exist within children. The most difficult to treat seizures may start in children before the age of 5 years old (sometimes later) and often are found to have a genetic origin, yet many of those children grow up into adults. Some children grow out of their epilepsy, but this depends on the cause so should never be assumed – another reason for more accurate diagnoses. Older adults with currently no known cause (idiopathic) for their epilepsy whose seizures started in childhood, may not have undergone the most advanced tests and investigations that are available today – be that more detailed MRI, improved EEG, or genetic/genomic testing. How many adults affected could reap the benefits of a more accurate diagnosis and may actually have a so-called ‘childhood epilepsy’? Importantly what could we learn from the older generations about the progress of these diseases over time (natural history)? Families with children diagnosed with a rare and complex epilepsy who have transitioned to adult neurological services say how they feel like they ‘fall off a cliff edge’ and that the underlying cause for the epilepsy seems no longer relevant to their medical team or the person’s ongoing care and treatment – which is disappointing. We need to reframe ‘childhood onset epilepsies’ and what they mean in later life.