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First presentation
At nine months old on the morning of 21st December 2016, we woke up to Zac making some strange noises. Matt picked him up from his cot and handed him over to me. Zac’s eyes were closed and he then went ‘floppy’. I yelled out to Matt that something was wrong and to call an ambulance as I realised that instead of being asleep, Zac was actually unconscious.The ambulance took about 20-30 minutes to arrive and in that time, Zac had started frothing from the mouth. The 999 respondent told us to lay him down on the side. Zac was still making groaning sounds.
By the time the ambulance crew had arrived Zac had turned blue. The paramedics told me not to worry (I was screaming for help) and said they witness this frequently in babies and would give him a shot of diazepam and he would be fine. Unfortunately, that didn’t work. They then told us we had to urgently transfer him to the hospital and were immediately blue lighted there. When we got to the hospital, a team of around 10 medics were assembled around Zac frantically hooking him up to machines. His veins had collapsed at this point and despite trying to inject him in the neck and in the groin they had to resort to IO access and finally managed to terminate the seizure 1h50 minutes after arrival at the hospital. IV access was then established, bloods were taken and Zac was resuscitated with fluid bolus and IV antibiotics. His GCS (Glasgow Coma Scale) remained low so he was put into Rapid Sequence Intubation (RSI) in ED and ventilated. This caused him to suffer a collapsed lung.
Matt and I were taken into the Family hospital room and were told by a doctor, they didn’t know what the outcome would be. They didn’t know whether Zac would survive, whether he would be brain damaged etc. Later that day, they told us to step out of the emergency room as they were going to try and get Zac off the ventilator but said it can be traumatic for parents to witness so Matt and I waited in complete silence in the Family room. The relief and sheer elation we felt when a doctor finally came back and told us it was successful was incredible. Zac unfortunately then went on to have two more of these prolonged status seizures over the next eight weeks each one lasting longer than the previous one.
Gaining a diagnosis
It was raised with us the second time Zac was rushed to hospital a few weeks later in January 2017. The Neurologist said there was a condition that Zac may have although it is incredibly rare. This doctor looked after epilepsy patients at the hospital but said he couldn’t remember off the top of his head the name of the syndrome but he would look it up and tell us. On his ward rounds the following day he told us about Dravet Syndrome but told us don’t ‘Google it’ as it would petrify us!
Two weeks later in February 2017, Zac was rushed back into hospital. At that point, the consultant decided to carry out the SCN1A genetic testing on Zac. Without knowing whether or not Zac would test positive at this stage, the Neurologist told us there is a high risk of SUDEP with children like Zac and that Zac will be developmentally delayed by the time he reaches his second birthday. Matt and I were in complete shock. I couldn’t speak, Matt asked if there was any help or support for Zac and us as his parents and we were told ‘no’. He suggested we researched seizure monitors and that was it, we were left tour devices. Zac’s SCN1A Genetic testing came back as positive in May 2017.
Challenges
Zac suffers from numerous comorbidities associated with Dravet Syndrome. He was diagnosed with having significant Sensory Processing Disorder in February 2020 (aged 4) and with a significant ASD/PDA profile in June 2020. The Autism Psychologist told us Zac is one of the worst children on the spectrum she has ever seen.
In February 2023, Zac was then diagnosed with ADHD and Dyspraxia. Again the paediatrician said out of the hundreds of children she has seen over the years, Zac is up there as one of the top five worst from an anxiety perspective she has ever seen. Zac has major sleep problems and struggles with coordination and balance. He can walk and run but is unstable on his feet and often falls over. He says ‘gravity is not my friend’. Zac also struggles with self care; dressing/undressing, putting shoes on and some aspects of toileting. He requires weekly Occupational Health and Speech and Language support
which unfortunately he doesn’t often get.
One of the biggest challenges we have encountered is the lack of wrap around support for people affected by Dravet Syndrome. In Zac’s case, we have to see a Neurologist for his seizures, a private ASD/ADHD Consultant Paediatrician for his autism/anxiety/ADHD monitoring and medication as the NHS has refused to acknowledge his comorbidities and a Community Paediatrician for his Melatonin medication. We then have to work separately with the Health Board to get support for his mobility and Speech and Language needs. At Zac’s latest Neurological follow up appointment, we were also informed that Zac needs physiotherapy. There is no umbrella medical support. Zac is on 6 different medications which have to be given at various times throughout the day.
Family Life
Living with a child who has Dravet Syndrome has had an immeasurable impact on us as a small family. We decided after Zac’s third prolonged status seizure in February 2017 that we would shield him. This meant that I gave up work and care full time for Zac. Matt was the only bread winner. He went to work but no longer shook hands with people, stayed in his office as much as possible and had a shower as soon as he came home before he touched Zac.
Zac and I would go out in nature for walks but we didn’t meet up with any friends or family and never went to shops or restaurants. When Zac had medical appointments we made him wear a face mask. This was three years before COVID.
We never mentioned the word ‘Dravet’ to family or friends and are only just now raising it. We stopped lighting the fireplace in winter as heat is a trigger for Zac’s seizures. Wind is also a trigger and Zac will frequently have a seizure if he is in a fast moving car with the window down, when he is on a fast moving fairground ride and if it is an incredibly windy day.
We had Zac on two seizure monitors. I became obsessed with monitoring his stats every few minutes. I kept a journal for around 18 months on his stats, food eaten etc. as I wanted to track every little detail so that if he had another status seizure I could pinpoint the cause. Noone had ever talked to us about any other kind of seizures but, now we are far more knowledgeable, we know he has a lot of absent seizures and myoclonic seizures.
We became complete recluses. We were very open and honest with the medical team supporting us about shielding ourselves and Zac from the world. After 2 years of shielding, the Neurologist mentioned that we really needed to expose Zac more to the environment around him as he was not going to be able to build a robust immune system if he wasn’t exposed to germs. We took on board her concerns, and started to expose Zac again and within two weeks he was back in Status in ICU. The Neurologist subsequently told us she would never tell us what to do with Zac again.
We did then enrol Zac in pre-school in mid-2019, he did however end up in hospital twice within the first three months. It was during his time at pre-school that Zac’s SPD and PDA became very apparent. The school refused to acknowledge Zac’s comorbidities and put him in ‘time out’ for ‘bad behaviour’ causing huge damage to his self esteem which he still suffers from 4 years on. He also now has school trauma and has recently started working with a home tutor for 90 minutes a day twice a week. He has an EOTAS package.
Zac is now fully exposed to day to day life. We have been on a few foreign holidays and Zac goes out for meals, to shops and has a nice group of friends despite his social communication and interaction challenges. He has developed different types of seizures over the past two years which tend to last from a few seconds to a few minutes at a time. The seizures are currently manageable; it is Zac’s comorbidities that are our biggest challenge.
Support from Dravet Syndrome UK
It has been incredible for us to join the DSUK family. We have finally found our tribe. We are connected with people who understand Zac and accept him for who he is. Moreover, we, as parents to a Dravet child, are also accepted, our parenting skills are not blamed for Zac’s behavioural challenges. We have found so much comfort in talking to other parents in a similar situation to ours. Day or night, there is always a parent or a member of the DSUK Team available to chat to if day to day challenges become intolerable. Furthermore, we have now gained so much insight in Dravet Syndrome and finally have answers for what Zac is going through.
We attended the last Dravet Syndrome UK conference, this was our very first conference and it was a real eye opener and are very much looking forward to the upcoming Conference in November 2025. We had so many questions and had been in the dark about so many associated symptoms. DSUK has been a life saver for us.
About Zac
Zac is an amazing child (I know every parent would say this about their child). He has fought so hard to stay on this earth with us, despite all the life threatening seizures and trauma he has had to endure, and unfortunately still endures.
Zac is very bright and despite his dyslexia and dexterity challenges he is finally starting to read and write albeit it very slowly.He absolutely loves books, marine biology, history (especially as it relates to wars), painting, swimming, science, museums, gardening, woodwork and arts and crafts in general. Zac is a master of Lego building, he has built hundreds of kits by himself including the Titanic which he built entirely by himself at the age of 8 in 3 days.
He has a phenomenal memory and can tell you when and where he got a certain toy from going back to the age of three. He remembers places, names and we often refer to him as our ‘little auditor’ as he will know immediately what toy car or dinosaur is missing in a pile of hundreds of them. He mainly relies on YouTube for his learning as he doesn’t like to be told anything.
Zac started Martial Arts classes in June 2023 with neurotypical children. He is doing amazingly well despite not being given any dispensation for his disabilities. He has also now joined a weekly Film Club and is learning all about ’Lights, Camera, Action’. We are incredibly proud of our little Dravet warrior.
Inspired by Zac’s story?
If you have been touched by Zac and his family’s journey, please consider making a donation to Dravet Syndrome UK and contributing to the support we provide for families who are impacted by Dravet Syndrome every day.