The vast majority of people with epilepsy are overwhelmingly treated with no knowledge of their genomic makeup. However, the future of medicine would seem to lie in the ability to more accurately target epilepsy treatment based upon knowledge of a person’s genome. This is commonly referred to as precision medicine, personalised medicine, or genomic medicine.

As a Genome Scientist, I have spent my career working on the human genome. I am also the parent of two young children who, unfortunately, both suffered brain damage during birth and have severe cerebral palsy. My daughter also developed a rare and catastrophic form of epilepsy at 8 months, called West syndrome, or infantile spasms.

When scientists and clinicians write research papers, we have to do it in a very particular way, using technical words and following strict ways of working. However, this isn’t particularly helpful for most people with epilepsy who want to read about the research into their condition, but don’t necessarily know all of the technical terms!

It is estimated that 1 in around 200,000 people is born with a hypothalamic hamartoma (HH), an epileptogenic lesion attached to the hypothalamus. However, HH syndrome is so rare

First and foremost, I am mum to my 18-year-old twins, Will and Ella. Will has had seizures since day 4 of his life and it wasn’t until he was 14 that we found out that he had a rare genetic epilepsy called SCN2A2. I’m also Founder of SCN2A Australia3, Co-Founder of Genetic Epilepsy Team Australia (GETA)4, and on the Leadership Council for Global Genes5.

Epilepsy Jo is the woman sitting where I was sitting; from the moment a seizure starts to the moment it ends. It’s Epilepsy Jo who during a seizure picks at her clothes, fiddles with anything within reach, raises her eyebrows, and smacks her lips. It’s Epilepsy Jo who, as a seizure starts, makes a guttural noise like (really terrible) Mongolian throat singing.

People around me used to make fun of me all the time as I stood there: in the spotlight, frozen, trying to recollect something, or to locate the words in my brain about the story I was telling them or the presentation I was giving. Whatever the occasion, by the time that I’d come to, I knew that I’d screwed up. But I don’t blame the people for being mean either…

Epilepsy is a serious problem in Afghanistan. Not only does the person suffer from epilepsy, but they also suffer from the fact that society refuses to accept them. Society calls them as crazy or mad. Even the family members don’t cooperate or want to take them to doctors. I have co-founded this organization to raise awareness about epilepsy and to introduce ways to prevent or decrease seizures.

Epilepsy seems like a pretty straightforward diagnosis to make. If you have seizures, basically you have epilepsy, right?

Wrong.

It turns out, there are very specific criteria that have been provided by internationally recognized and peer-reviewed collaborations