"Charlotte was born 6 years ago; a happy healthy little girl, who loved the bath, and thought the word ‘broccoli’ was hilarious! Aside from one febrile convulsion, she developed seemingly normally.

The next 3 and half years passed with Charlotte being sometimes gregarious and inquisitive, but often serious, quiet and in a world of her own. In fact, her nursery staff would often comment that she had been in ‘Charlotte land’ all day and was very happy there!

But as her mother, I felt something wasn’t quite right. I felt that she was drifting away from me, and I didn’t seem to be able to create the same bond with her as I had with her brother. She was increasingly clumsy, and we constantly chastised her to ‘pick up your feet’, ‘look where you’re going’, ‘concentrate on what you’re doing’! 

It was on holiday in Spain in June 2017 that we finally realised there was something very wrong with our child. She was sleeping more and more in the day time, becoming quieter and frequently burying her face in her beloved comforter called ‘bookie’; she was retreating from the world. It became harder to gain or keep her attention, and on holiday she would wake from a 12 hour sleep only to go back to sleep after 45 minutes of playing with her little brother. My husband went on to watch her like a hawk, and he realised she was having absence seizures. 

We started her on anticonvulsant drugs with some initial success. However, she had now started school for the first time, and was constantly exhausted, unable to keep up with her peers. She seemed exceedingly clumsy and had some terrible falls and accidents, which put us all on edge. We were no longer confident of her ability to tackle stairs unaided, and her teacher noticed that her hands had tremors. The drugs didn’t seem to be working.

More tests just before she was 5 years old indicated that she did not have typical absence seizures. More combinations of different drugs were tried, with a variety of horrible side effects. One morning, I walked in to her bedroom to find her awake, but slack jawed and floppy – I thought she had had a stroke. 

The fatigue was becoming all consuming. Once we lost her in a shop - a panicked investigation found her curled up asleep under a rail of coats. Another time, we held a birthday party for her, and she couldn’t be woken to join in the singing or to blow out her own candles. 

Charlotte often pleaded with us not to make her take the variety of drugs she was now on. They tasted horrible, and often gave her stomach ache and made her vomit. We consulted the internet, local food shops, and dieticians to try anything to ease her discomfort and get her to eat. 

By the summer holidays last year she was still having around 10 absences a day and remained physically very awkward. She had a deathly pallor to her skin and shocked friends and family with her fragility. She liked to float face down in the swimming pool with goggles on, like her little brother. By now I was so anxious I would frequently jump into the shallow end to perform Baywatch-style middle aged crazy lady ‘rescues’, when often she didn’t need them and was cross with me!! I was terrified she was going to die. I couldn’t bear to go into her bedroom in the morning for fear of what I might find. 

We felt we were stuck in a rut between helping and harming our child with all the medication that she was on. Part of us wished we had never started this journey, and that we had left her in ‘Charlotte land’ where she was happy.  

Finally, last September, just as she started her second year of school, we got the tentative diagnosis that she actually had a rare genetic disorder called GLUT1 Deficiency Syndrome. GLUT1 DS means that Charlotte is missing the transporter protein that carries glucose between her blood, and her brain. Consequently her brain was being starved of energy.

GLUT1 is drug resistant, and the ketogenic diet is considered the first line of treatment. We were offered to try Charlotte on the diet prior to a formal diagnosis. We leapt at the opportunity. And at this point we started to feel new hope…

We had our first appointment with the keto dietitian in October. She went through the diet in great detail and also suggested we contact a charity called The Daisy Garland. Unbeknownst to us, our hospital was the first hospital that benefitted from a ketogenic dietitian entirely funded by The Daisy Garland, and this paved the way for our child to have easy access to the service.

We went away feeling rather daunted by the nutritional demands, complex calculations and vast amounts of Tupperware required just to get started. Charlotte then received a wonderful 'Welcome' Box from The Daisy Garland to get us going on the diet, with lots of useful information and girly bits to make Charlotte feel positive about the big change to her life. 

On the 4th November 2018, Charlotte started the keto diet. 4 days later, she entered ketosis. She has not had a seizure since.

Charlotte’s symptoms of absences, clumsiness, tiredness and mental confusion have all dissipated or disappeared since being on the keto diet. Just last week I happily took a massive carrier bag of medication back to the pharmacy – Charlotte is now entirely drug-free.

Charlotte has a firm GLUT1 DS diagnosis and she will need to remain on the keto diet for the rest of her life. Prior to her diagnosis, we were warned that going on the diet was a LOT of effort. Yes, it is a lot of effort, but with the constant guidance of our Daisy dietitian who is in touch weekly, or sometimes daily, and with the emotional support, daily recipes and help of The Daisy Garland, it is slowly becoming second nature to us as a family. We’re proud to say that we can now ‘wing it’ if we’re caught out and about with no pre-prepared food!

It feels as though we are getting to know a new child. We have our real Charlotte back. Our son, Alexander, has his sister back.

We cannot overstate how crucial the role of The Daisy Garland has been in helping our child become the best possible version of herself. 

We hope that everyone reading this will appreciate the significance of diet when the drugs don’t work; and recognise the huge emotional and human support The Daisy Garland offer…"