GLUT 1 STORY – Olivia’s Story

Olivia was 18 months old when I first saw her seizures. Her brother Bailey had just been born and life was pretty hectic with a toddler and a newborn. At first Olivia was just twitching a little and falling down more than usual. I took her to the health visitor, who mentioned that she thought Olivia had flat feet causing her to fall and that we should see a specialist. We waited months for the appointment to come around to be told her feet are completely fine. At this point Olivia’s little twitches were becoming more frequent and we noticed her eyes rolling. We mentioned this to our health visitor and different doctors a few times with no answers. I was actually in an appointment for myself one day and I decided to mention Olivia and finally the doctor stated that it sounded like petit mal seizures and she would refer us. It came as quite a shock but at the same time I was just glad to be finally getting answers. We waited a few months more for the appointment upon which the doctor wanted Olivia to have an EEG to confirm the seizures were happening. We did an EEG that picked up nothing as it was performed in the afternoon and with Olivia her seizures were 95% gone by 2pm. We then asked for them to give us a morning appointment and kept her up really late in the hope of provoking some seizures. We got lucky that day and Olivia had many seizures while hooked up to the EEG machine and she was also recorded on video. Her doctor thought she had absence epilepsy and prescribed us Sodium Valproate. Olivia’s seizures began to increase each time we gave her this medication. She had actually begun starring off and collapsing which was all new symptoms… we made the connection that every time we upped the medication Olivia was showing new seizure types. We asked to stop the medication as it seemed the more we gave the worse she got .The doctor at the time seemed to think worsening seizures due to meds was not possible but I’d researched different. It was the point where I was on the phone and had told the doctor I think Livi’s having myoclonic seizures and she agreed, that I realised we needed to be transferred. The medication increasing the seizures and the wrong diagnosis of the seizure type was a big red flag to me. We needed a doctor who knew more about epilepsy and we asked to be referred to a paediatric neurologist. I spent the months we waited for our appointment researching. Trying to figure out the different names of the seizures and what characteristics they had … trying desperately to find out a possible diagnosis. It was at this point I was making myself physically and mentally sick. Google was turning up horror stories about medications and really debilitating forms of Epilepsy. I was finding the not knowing and waiting really difficult at this time. We finally got our appointment with the neurologist and I went into the appointment with a huge list of tests that I wanted her to put forward for. I told myself if this doctor won’t put her forward for them then we are referring again. I honestly did not need to take the list out of my pocket. Every single test and more was mentioned by him and I left that appointment knowing we had found a marvellous doctor. We were trying Ethosuximide at this point and Olivia was again getting worse, collapsing a few times, and when it looked like she had been thrown backwards across the room. It was really scary so we weaned this medication after only a few increases. Olivia had a bout of sickness where she refused to eat for 5 days. During this time Olivia became completely seizure free. I was baffled, my first thoughts were a food intolerance. She had not eaten anything so some type of ingredient must have been causing the seizures. We had an appointment with a temporary neurologist who was filling in and I explained what had happened. We were told Olivia’s body had gone into starvation mode and was mimicking the ketogenic diet. I’d done some research on it and I instantly knew that she just had to be on this diet.

We asked the doctor and he told us about the huge waiting lists and we begged him to put us on the list. We then went away after deciding that until the time came for the diet we would stay med free. Olivia’s MRI and lumber puncture was coming up and we were hopeful of answers. We had the tests done and we left the hospital with a giant bag of Lamotrogine as Olivia had been having lots of seizures at this point. I stood in my kitchen holding all this medication and burst into tears. I hated the thought of having to give my baby girl these dangerously strong meds. The thought of it making her worse was heavy on my mind. I got the courage to give her the first 1/4 tablet, 2 minutes after she had taken it my phone rang, it was Olivia’s neurologist. His first words were please do not give olivia the medication we have a diagnosis. At this point my stomach was doing somersaults. He asked me to Google Glut1 D and explained the only known treatment was the ketogenic diet so a dietitian will be in contact within a week to initiate starting the diet as soon as possible. I have to say that hearing ‘don’t give her meds’ and ‘you are starting the diet soon’ were the most important words I’ve ever heard in my life. He also said Glut1 responds very well to the diet. That night I slept better than I had in years. We met with the dietitian and we skipped the slow process on starting keto and jumped straight into the deep end as that’s what Glut 1 calls for. Within days the seizures had almost gone. Within a week the 50-150 myoclonic seizures were 100% gone. Our little girl who couldn’t stay awake past 10am without needing to sleep was going out for the entire day, morning until night and was running wild coming home and staying up late playing with her toys. This was a complete 360 degree turn. I had a normal energetic healthy 4 year old daughter for the first time in years. I couldn’t believe how lucky we had been to get a diagnosis of a condition that called for the diet as it’s number 1 treatment. Olivia is now in normal school she’s doing very very well and is an extremely keen learner. She has a few little myoclonics here and there now but nothing that is affecting her life. The Ketogenic diet is tough but the benefits are worth the hardships a bilion times over. Without the diet and the help of Matthews Friends we would be in a very different situation today. Olivia has been so lucky and we are so proud of the achievements she has made in her life so far. She’s been through more in 7 years than most adults do in a lifetime. She’s brave, confident, smart, and extremely switched on to the benefits the diet has given to her. To say I’m proud is an understatement. She has dealt with the life she’s been given with so much determination and courage that I know no matter what life throws her way she has the strength to shine through it. Love you Livi.

Laura Rees – mum to Olivia (Livi)