Esmé’s story has been written by her mum Carly.
After a perfectly healthy pregnancy my little warrior Esmé was born via planned c-section on 17th December 2020. As soon as she was born she was very jittery and twitchy. I remember the nurses having to swaddle her hands to her sides to keep her still. I was naive back then though, and when bloods and other limited tests done came back normal I totally forgot about all of this.
Ez was a very calm and content baby. She was super alert and responsive and began to meet her milestones as expected. However, a few weeks before she turned 6 months old, I began to feel like something wasn’t right. She became more withdrawn and would always lean over to one side. I raised concerns with health visitors and doctors, even took her to an osteopath, for them all to assure me she was fine and all babies develop at different times ….
On 24th June 2021 at 6 months old Esmé had her first seizure. I was driving at the time and saw a look of pure fear spread across her face in my rear view mirror. Her arms then shot up in the air and she cried out afterwards trembling. A minute later it happened again, and again. During my initial calls to health visitor and GP (same day) my concern was dismissed. These episodes increased the following day and happened every time she woke from a nap. At this point I called 999. We were taken to A&E and by chance a doctor who knew what IS was saw Esmé. Unfortunately it was a Friday night and we were sent home and told to come back Monday for an EEG. On Saturday night Esmé had a different type of seizure, her tongue and eyes rolled back into her head and she had a full blown tonic clonic. I remember her first IS cluster and that seizure like it was yesterday and the look on her face still haunts me even writing this. We were blue lighted back to hospital and I refused to leave. I was told that the tonic clonic I observed was not a seizure. I remember sitting holding Esmé for that week in hospital and sobbing uncontrollably. I hardly slept. Her biological father who I was still with at this point blamed me and was sending me abuse. I’d googled IS and was devastated. I genuinely thought my baby was going to die.
On the Monday an EEG confirmed Esmé had IS. I was introduced to an epilepsy nurse and given the UKIST leaflet. Ez was started on prednisolone and Sabril (vigabatrin). Her spasms stopped after the first dose and I thought she was one of the lucky ones. We had a few weeks of seizure freedom before other seizure types began to develop. At this point I had no diagnosis or reason for her IS and was googling and overthinking CONSTANTLY. Fortunately I’d made contact with UKIST by this point. I can say hand on heart that group and my other child were all that kept me going through that initial phase.
The meds swelled my beautiful babies body and stole her personality. Another blow when you’re already devastated and grieving for your healthy baby who seems lost. As seizures increased/changed/developed we tried medication after medication…. Nothing worked. At a year old (the week before her birthday and Christmas) AND in lockdown Esmé began having almost constant myoclonic jerks and short tonic seizures causing her to hold her breath and turn blue. I had to fight for rescue medication to be prescribed. At this point we had still not had the genetic blood results back and were still in the dark. I pushed for an admission and we were admitted to the bigger local children’s hospital for the 1st time. Esmé was finally seen by a team of neurologists and the genetic team. I spent her 1st birthday with her alone in hospital (no visits due to covid) not knowing if she would come home with me or not. She was given an nasogastric tube, and I was told they could not switch off her seizures because she was so severe. One neuro told me she was unsure she would see her 5th birthday. Things calmed down with the introduction of clobazam and nitrazepam but again, she would just lie still barely making eye contact. Before we left that hospital I insisted on a referral for ketogenic diet. I was told she was too young and there was a long wait but I stood my ground. I chased that referral every week until we finally got the call to start!
Within that time I also got a call from the genetic team. I was told over the phone that Esmé had SCN8A – a severe genetic encephalopathy. I was told to do my own research?! Again this was devastating. Ez began keto and seizures reduced in severity and length. She made ketones easily and I quickly switched from prescription milk to a clean homemade diet. I had to push for this. I also continued to breastfeed alongside! It IS possible. We were able to wean a number of meds including nitrazepam and clobazam and I got my baby girl back! In this time we also weaned Vigabatrin. Things improved massively but not enough. We continued to try different AEDs but nothing really helped and all had side effects. Next I pushed to try prescription CBD. This made a big difference to Esme’s alertness and we weaned another AED (they had her on 7….yes 7 at one point) I became more interested in AED alternatives and pushed hard for full extract, advanced cannabis oil. This was not and still is not available on the NHS despite a law change before Esmé was born to make it legal for neurologists to prescribe. I fought hard and was part of a BBC documentary.
Esmé has had a private prescription for cannabis for over a year now. It’s eye-watering expensive but it’s changed her life as she is now only on 2 AEDs ( one a small dose and soon to be weaning to one) she’s gone from up to ten big seizures a day and clusters of hundreds of tonic seizures a night to having seizure free periods of 3 weeks with only 1 or two visible seizures a month. She has started specialist school which she LOVES. I’ve sourced private physio and she’s made significant progress physically. She’s developing (at her own pace) but she’s the best she’s been since she was 6 months old and seizures began. She’s also had a VNS (vagal nerve stimulator – a surgically implanted device which can help control seizures) which has definitely helped alongside the diet and cannabis.
I have had to fight for EVERYTHING – not just meds, for care, education, equipment, therapy.
Please don’t give up on the dark days. Please always trust your gut. Don’t be fobbed off or made to feel crazy; I genuinely don’t think Esmé would be here if I didn’t fight and she certainly wouldn’t be loving the amazing little life she has now. I don’t know how long I have with Esmé – her condition is life limiting and volatile, but I do know she is the best thing to ever happen to me – my eyes have been opened to what’s important in life, and as much as there is bad and evil in this world there is also beauty, kindness, and HOPE. Don’t ever give up on your little warriors ❤️
