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Life with epilepsy: Olivia & Cecilia’s story

Olivia & Cecilia

Olivia is seven years old and lives with Lennox-Gastaut syndrome – a severe and rare form of epilepsy characterised by cognitive disorders and multiple seizure types. In this Feature article, Olivia’s mother Cecilia discusses her diagnosis, treatment journey and the various impacts of epilepsy on their family life.

How did you find out Olivia had epilepsy? What tests were given?

We first noticed certain things in Olivia’s behaviour like her facial expressions changing, head dropping slightly, eyes seeming blank, and jerking movements. Before going to the GP for the first time, we as a family had suspected Olivia could have West syndrome. This was extremely concerning due to many factors associated with the syndrome, including the reduced life expectancy.

Epilepsy was first diagnosed after an EEG that was carried out at Poole Hospital in November 2018. Olivia was two and a half years old. An MRI scan showed Olivia’s brain to be normal and tests had also revealed her metabolism and blood levels were as they should be, so the doctors suspected that the underlying cause for her condition was probably genetic. A later EEG carried out at a hospital in Florence revealed a slow spike-wave pattern, indicating Lennox-Gastaut syndrome. West syndrome was dismissed following the EEG, however we later discovered that Lennox-Gastaut syndrome is often the evolution of West syndrome as the child grows. This type of epilepsy is called catastrophic epilepsy as it is gradually regressive and has a very significant impact on the child’s development, who may stop learning and growing mentally, socially, and emotionally from the onset.

Initially, we were relieved to have found an answer with this diagnosis, but the journey really started there. We had longed for answers about the causes, but what we wanted more at this point was an effective treatment. Olivia is now almost eight years old years old and takes several medications to help with her atypical absences, myoclonic, tonic-clonic, tonic clusters and focal seizures. Despite her age, Olivia wears nappies, is completely dependent on us and is currently working towards progress expected from a 12 to 24-month-old baby.

The use of CBD oil had a positive effect on her cognition, to the extent that she can now focus on a task for up to 20 minutes at a time.

Olivia began the ketogenic diet in 2023. How has that altered the effects of her epilepsy?

Initially, the frequency of Olivia’s seizures worsened, with 91 taking place in March ‘23. There was then a slight improvement, then another dip.

We found that when Olivia’s blood ketone levels were higher than 4 mmol/L, her seizures were increasing in number and severity, whilst her behaviour was improving massively.

However, if her ketones were lower than 2 millimoles per litre (mmol/L) her behaviour was very negatively impacted – she stopped being able to concentrate, listen, or form words, while her seizures were getting better. This has been a bit of a mystery for us, although we are very aware that treatments can have different outcomes for different patients.

After some juggling, experimenting and trials, we seem to have found the sweet spot, this being having her ketone levels between 3 and 4 mmol/L. Since getting her blood ketone levels right, we have seen a marked improvement in Olivia’s behaviour, mood and energy. In total, we recorded over 800 seizures in 2023, however in December Olivia had her best month of the year, with just 42 seizures (roughly 2 a day). Compared to 91 seizures in March, this is a huge improvement to Olivia’s quality of life.

We now must do two ‘finger prick’ blood tests a day to check her ketone and glucose levels, but Olivia is always so brave. We always knew she was incredibly resilient, and it was great to see how well she adapted to the new diet. She previously had a diet which was very heavily based on carbs, so we initially felt bad cutting these out. However, having some limits on food choices has made Olivia take an interest in new foods such as avocado, eggs and prawns. After losing her appetite due to constipation and all the medications she has to take, once again now she is a foody!

In our case, we have to credit the ketogenic diet for giving Olivia a lot more energy and focus. She used to nap regularly, couldn’t walk very far and would lose focus easily, but now she often has normal levels of energy for her age – full of beans!

How has epilepsy interrupted Olivia’s life?

The seizures really are just the tip of the iceberg. The surrounding problems are a huge part of the challenges of epilepsy. Olivia seems to experience almost constant abnormal background activity in her brain. One minute she can be dancing and happy, and the next minute she will be still and expressionless. Epilepsy tends to interrupt Olivia’s life roughly every 10 minutes in some way or another.

In the past, Olivia has been so exhausted from myoclonic seizures, which we have found to be the most destructive and disruptive, although very brief and sometimes hardly noticeable. There were times when she had 50 or more seizures in succession. Coupled with all the other effects of her condition, this meant that she struggled to walk. Her mobility became a huge concern of ours for around two years. Olivia has been diagnosed with ataxia – a group of neurological conditions affecting balance, coordination and speech. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. This affects Olivia’s coordination and gross motor skills, meaning she frequently falls and hurts herself. We are closely working with her school to provide her with physiotherapy exercises to improve her balance and posture. She has also recently received her ankle splints which hopefully will help her walk better.

Her behaviour has been through many changes due to her condition and the medications used to treat it, and Olivia remains practically non-verbal. She faces challenges in focussing and engaging in activities and social situations. Her energy levels, eating habits and sleeping patterns have been greatly affected for many years, preventing her from learning new skills and dramatically reducing her memory.

One of the biggest issues (aside from her epilepsy) is a grave sensory impairment, which causes Olivia to put pretty much any object she finds in her mouth – be it nails, buttons, plastic, pens, safety pins, or sand.

For us as a family, it is very hard to ever relax or do “normal things”. We are on constant high alert and rely on various aids around the house, such as cameras to cover the rooms when we cannot be with her, and an anti-suffocation pillow and numerous chewy toys.

Cecilia went on to tell us about why the family feel it is important to support research into epilepsy.

I think parents and researchers need to work together to better understand and treat epilepsy. The knowledge each group has is really two sides of the same coin. Parents have lived through the experience and know about the day-to-day impact of the condition, and researchers know about the underlying scientific causes and potential ways to treat epilepsy.

Our hope for the future would be to see a more complete and connected data system where information from epilepsy patients across the different health services is shared. This would aid quicker diagnosis and, amongst many other things, would help so many get the right treatments before it is too late.

One positive effect of the pandemic is how much more information has been made accessible online. I have watched various webinars from across the world and gained so much more knowledge about the causes and treatments of epilepsy.

Ultimately, my only hope as a mother is that Olivia is as happy as she can be and able to live a full, exciting life despite all the challenges.

- Cecila, Olivia’s mother – January 2024