Maria spoke at our Navigator Symposium on rare epilepsies in November 2025. Her powerful story perfectly illustrated the need to advance research into the causes and best possible treatments for complex and refractory epilepsies. We thank Maria and her daughter for sharing their story with us.
Our epilepsy journey started from my baby daughter’s birth when the first steps in life seemed harder than anticipated. Everything was a great effort from the beginning. My baby was not breastfeeding well, she cried a lot and could not fall into a restful sleep from day one.
Two years went by filled with more daily challenges - transitions became harder, emotional and behavioural outbursts became stronger and energy levels became bigger with less sleep.
Then, one day on our special trip out on a train my daughter, aged two at the time, had a choking episode while eating her favourite hummus sandwich. While administering first aid I realised, it was not choking, but something different, which I had never come across in my general district nursing practice. My daughter became tense all over, lost consciousness, her lips went blue and then she vomited. This was followed by a deep long sleep, so unusual for her.
Such episodes became more frequent over time and other symptoms creeped up: vomiting, loss of bladder control, emotional and behavioural outbursts and strange eye and head movements with copious drinking episodes. Her development regressed, she lost her speech and slowly her cognitive and physical skills declined with sensory, behavioural and psychological issues arising.
After many such episodes, we were admitted to a children’s ward in a general hospital where doctors did an EEG and took blood tests, which was all traumatic for my daughter, as she could not understand what was happening to her. Finally, we received a diagnosis of a generalised epilepsy with very abnormal electrical activity across both brain hemispheres, and the true epilepsy journey began.
For the following 21 years we have trialled most of the anti-seizure medications available at the time, including Cannabidiol Epidyolex, levetiracetam, brivaracetam, lacosamide, clobazam, sodium valproate, topiramate, lamotrigine, rufinamide, clobazam, and pyridoxine B6. We did our best at keeping to the various ratios of Medical Ketogenic Diets twice, went through multiple video and ambulatory EEGs, CT scans, MRI, lumbar puncture, countless blood tests, referrals to metabolic specialist teams, specialist epilepsy clinics, epilepsy nurses’ clinics and have gone through the most comprehensive epilepsy and whole genome sequencing genetic panel tests. Additionally, there were two types of emergency rescue medications we frequently used for prolonged seizures and non-convulsive status epilepticus.
We still don’t know the cause, we don’t have the cure, but we have a diagnosis of Lennox Gastaut Developmental and Epileptic Encephalopathy - a rare form of epilepsy, profound Intellectual Disability, Autism, and medical health conditions associated with anti-seizure medication side effects. Our life revolves around my daughter’s complex epilepsy and learning disability and the change in its direction is beyond imaginable.
However, we are here, despite my daughter having had 450 seizures in 24 hrs and all the challenges they brought, we are grateful for the treatments offered to maintain her life.
Epilepsy gave me the meaning and urge to study functional medicine, nutrition and lifestyle sciences so I could support my daughter’s health alongside her medical treatments. I left my nursing job, but gained immense “lived experience”, knowledge of holistic health and met the most compassionate and resilient people along the way.
This is the reason I truly believe that research is so important in our understanding of epilepsy. It’s vital to know more about the risks, causes and genetic connections with other conditions. By studying the mechanisms of brain hyper-excitability, it will be possible to find precise medical treatments and gene therapies or whether we can use re-purposed medications.
I am committed to participating in epilepsy research with the Epilepsy Research Institute and other charities and hope scientists will find a cure for complex and refractory rare epilepsies soon.
My daughter and I continue our epilepsy journey with seizures becoming slightly better, and we still love hummus! Maybe one day she can be free from her epilepsy and learning disability and have a better quality of life.
Maria’s website can be found here: https://beautifulmindnutrition.com/
