Lottie

Gaining a diagnosis

That night was when our lives changed forever. My wife, Danielle, had been woken up by Lottie having a seizure. Lottie was lying face down in her cot, struggling to breathe and excessively drooling. This seizure lasted for 39 minutes. Back into hospital we went, only 6 hours after we’d left.

We were sent off to GOSH on Friday morning, chaperoned by a nurse who stuck with us the whole time during our visit there. Lottie had an EEG and a genetic test. There was talk of brain surgery. Within the space of a few hours, we were told our tiny little girl had epilepsy. We were given a prescription for three medications and were told that we’d be receiving emergency life support training later. We were sent home.

As soon as the genetic test had been mentioned, I knew there and then that we were geared up for a ‘journey’. We had the results back five weeks later, confirming a SCN1A mutation. Ironically, this was the day before Lottie’s fourth seizure, when we had our first experience of administering Buccal Midazolam as parents. It was a full body tonic clonic lasting 25 minutes.

Two months later we had a video call with a consultant from GOSH. He, rather worryingly, just dropped a diagnosis of Dravet Syndrome into the conversation.

By this point, I had heard of Dravet Syndrome, because as soon as we received the genetic test SCN1A mutation result, I went into full-on ‘research mode.’ I remember lying in the bath scrolling on my phone, researching, and saying to myself… “surely it can’t be Dravet Syndrome.” But, from the experiences we’d had up until this point, I knew it was going to be Dravet Syndrome.

I understood the basics of the condition, which the consultant went through with us. He explained the usual course of the condition, with the caveat that the disease course can vary between individuals and the severity manifests overtime. He suggested that we focus on the positives of her currently developing well, getting a comprehensive care plan in place and aggressively treating the seizures with an additional two medications, but did acknowledge that it’s a natural part of being a parent to latch on to the ‘worst parts’.

Support from Dravet Syndrome UK

This is where we reached out to Dravet Syndrome UK. We knew we needed support to come to terms with Lottie’s diagnosis. We struck gold as it’s a charity that genuinely cares, is always available and is an absolute blessing to have in our lives.

Joining the private Facebook forum has, genuinely, been one of the best decisions of our journey so far. The support we’ve had from, well, strangers, is unbelievable to be honest. The reassuring “I get it” from other parents is a subtle reminder that we’ll never be alone again. It’s a community that’s always there and I speak to other parents of those living with Dravet Syndrome each and every week.

We went to the Annual Family Weekend Away at Center Parcs in 2025. We thoroughly enjoyed ourselves, though I was an emotional wreck at times! It’s now a staple in our family calendar and we’re looking forward to it again this year.

For me personally, the biggest impact the charity has made to our daily lives is supplying us with a Pulse Oximeter through the Seizure Monitor Fund. It directly and positively impacts our ability to sleep as it provides some peace of mind. And when I do wake in the night, I can check the Pulse Oximeter readings really quickly and easily. It’s such an important piece of equipment for us. Coupled with a video monitor we purchased, I can now check on Lottie without standing over her all night – I would definitely have gotten very ill if I’d continued to do that.

Impact on siblings

Lottie has two older siblings – Sadie and Maddie. They are both absolute diamonds.

Each has their own little ‘job’ in an emergency situation. The additional vigilance and the ever-watchful eye is now a natural part of their lives. They are so completely understanding when Nan sometimes has to come round and stay overnight whilst we’re rushing off to hospital, we may have to cut our holiday short, or Lottie isn’t able to come to things. They really are the best big sisters Lottie could ever need and the love and support they have for her is unmatched.

Although they are so amazing, it’s extremely tough as a parent to see the impact that Dravet Syndrome has had on Lottie’s siblings. For so many years we’d been a free-flowing family, enjoying many holidays a year in and out of the UK and inevitably this has had to change somewhat. We know that this isn’t our fault, but all the same, we have an overwhelming sense of guilt which I don’t think will ever go away.

Daily challenges

Although we have support from others, at times it can feel incredibly isolating and a huge struggle to juggle family life with two older girls, alongside a Dravet Syndrome diagnosis.

As a family, being prepared, organised and informed is our greatest strength I would say. I keep notes on absolutely everything and this is always my biggest tip to other parents caring for someone who is living with Dravet Syndrome. For me, once it’s written down, I can try and get it out of my head, because too much noise in my head and all of the traumatic moments we experience are difficult to sit with, even on the good days.

At the moment, Lottie is enjoying full-time nursery, playing on the slides and doing messy paintings whilst scoffing down pasta, cheese and strawberries at every opportunity she gets.

Luckily, Danielle works at the nursery that Lottie attends, which is a massive positive for our peace of mind, but also means Mum never gets a real break, like I do when I go to work. Balancing having a career alongside Dravet Syndrome is one of the more difficult challenges. The lengths Danni will go to for us as a family is awe inspiring. She is the most incredible Mum!

The constant daily medications, never-ending hospital appointments, reduced appetite and lengthy seizures are tough on Lottie, there is no doubt about that. But, through it all, she is an absolute ray of sunshine.

Lottie is incredibly loving and affectionate and adores playing with her baby dolls and doing puzzles. She is the most hilarious and cheeky two-year-old you’ll see.