Our beautiful baby boy was born on the 22nd November 2013. It was a fairly rocky but ‘normal’ start with an emergency caesarean followed by a scare in week 2 when he lost too much weight and ended up in hospital under a UV lamp to treat jaundice.
The next 8 weeks were filled with the normal baby stuff of sleepless nights, dirty nappies, a screaming baby and the feeling of being completely clueless new parents.
Then on Saturday 18 January something weird happened. He suddenly lost consciousness and started twitching. We had no idea what was going on. Confused, we filmed it so that someone else might be able to tell us. We called NHS Direct who told us to take him straight to A&E. It lasted 5 minutes and afterwards Toby seemed completely fine.
We sat in Children’s A&E for a few hours, while he smiled at the nurses (something that would be a common theme going forwards) and they couldn’t find anything wrong with him. The doctors suspected that it was a febrile convulsion brought on by being too hot, a common occurrence in babies as they can’t regulate their temperature as well as adults. We left feeling like neurotic first time parents.
A week later it happened again. Another 5 minute seizure, but this time he was sick. We didn’t have any idea what was going on or how fatal that could have been. We filmed it and this time made an appointment at the doctors. The doctor sent us straight to the Paediatric Assessment Unit at the hospital. Again they couldn’t find anything wrong with him, but this time we were told to call an ambulance if it happen again.
It did happen again and this time it didn’t stop after 5 minutes. We called an ambulance and waited for someone to come and help us. The seizure last 12 minutes: an agonising time to watch your 10 week old baby convulsing and unconscious.
We were taken to hospital in the ambulance with the sirens blaring and admitted to the children’s ward. Toby had every test you can imagine: EEGs, MRI, ECG, blood tests, lumber puncture and urine tests. We had an internal battle of wanting them to find something so they could try to fix it and being terrified of what they might find. They didn’t find anything but the seizures continued.
Toby was started on anti-convulsive medication and we were taught how to administer buccal Midazolam (rescue medication) to our 10 week old baby and told to call an ambulance every time he had a seizure. We hoped with all our hearts that the drugs would work and that he might grow out of it, but Toby continued to have 12 minute seizures every week or so, and every time it broke our heart.
When we were referred to a Neurologist in Oxford John Radcliffe we hoped he would have the answers we were looking for and would be able to stop the life threatening seizures.
After a couple of meetings and another hospital stay, further tests were carried out. We were told that whilst Toby’s development seemed on track, with the amount and severity of seizures he was having that the prognosis was not good. We were devastated and confused. How could our normal, smiley baby not get better?
Between seizures, ambulances and hospital stays we tried to lead a normal life, giving Toby the experiences that would help him develop, taking him swimming, singing songs at Jo Jingles and having fun with his grandparents, but all with the constant threat of not knowing when the next one would happen and Toby having partials seizures (small twitches and jerks) throughout the day. Sometimes it was 2 weeks between big seizures, other times it was 2 days.
We tried 8 different drugs but the seizures continued to get worse.
When Toby was 6 months old we had an appointment with our Paediatrician and the Matron of the Children with Complex Needs team in Milton Keynes. After general questions about his development, which we were really pleased with, he started to talk about a genetic mutation of the SCN1A gene and this is a strong indicator for Dravet Syndrome. The realisation that something really serious was going on started to dawn on us.
Dazed and in tears we left the appointment and went home to start googling Dravet Syndrome. It did not make happy reading.
One of the first websites we found was for the Dravet Syndrome UK Charity. We got in touch and were welcomed with open arms. Amazingly there was a planned weekend at Centre Parcs for families of Dravet Sufferers 10 days later.
We joined 36 other families with children of different ages suffering from Dravet Syndrome at Center Parcs in Sherwood Forest. As expected, it was an incredibly emotional weekend and a scary glimpse into the future. We met some truly lovely people who told us we were very brave for getting involved so soon and how lucky we were to have an early diagnosis. We didn’t feel very lucky at the time. They didn’t mind when we cried on them the moment we walked in and we were offered lots of practical advice on how to cope and where to find help.
The level of disability that the Dravet children suffered from varied greatly. It made us question how bad it might get and how quickly was it going to happen. Would we lose our smiley little boy?
No one shied away from how hard it is living with Dravet however they showed incredible courage and a desire to fight this awful disorder every step of the way, which we are determined to do as well.
We left feeling numb and scared about the future, but knew we had made an important step in meeting people who understood and would help guide us through the coming months and years.
Since that weekend things have been deteriorating rapidly. Toby now has a prolonged 15-25 minute tonic clonic seizure almost every day, requiring rescue medication and ambulances at the house. He regularly stops breathing during the seizure and requires rescue breaths. This makes it very difficult for anyone else to care for Toby. His grandparents are very brave and do look after him, but it is scary for them, as it is for us not being with him.
One of the hardest things to live with is not knowing what triggers his seizures and constantly trying to avoid things that might lead him to have one. Teething, hot weather, over excitement, tiredness are all things that seem to make it worse.
In July he had a seizure in the night that despite having rescue medication at home and in the ambulance wouldn’t stop. We stood in the Trauma Unit and heard the words “get an intensive care crash team in here now” because our baby had stopped breathing from the medication used to stop the seizure after 46 minutes.
During October Toby had 3 seizures lasting between 60-75 minutes, again he stopped breathing but the Trauma Team in Resus were fantastic and breathed for him whilst managing to break the seizure.
November and December weren’t much better for Toby and it wasn’t until we increased his drugs after Christmas that his seizures started to settle.
Over the following months Toby’s seizures were shorter and needed less intervention but were a lot more frequent, often 2-3 per day, which we could cope with, just about.
It all went horribly wrong in late May when Toby had an 80min seizure one Thursday evening, we got him into hospital just as the seizure ended and he was transferred to the ward after a few hours of recovery, once there however he started shivering which lead to a further 90min seizure where the decision was taken to intubate him (put him on a breathing machine) and place him in a coma. Due to the seriousness of the situation Toby was transferred to Southampton via a specialist ambulance where he remained in the coma for five days.
We still live in hope that we will find something that will help to manage his seizures and give him and us a break from these horrible seizures. We sadly know enough about Dravet Syndrome to know that Toby’s development will start to slow down and decline in the future and the seizure control will always be an issue.
Our job now is to try to give Toby the best life we can. We fight daily to keep him at home so that he can have the experiences that other babies do, that are vital for his development. We hope that by having fun with him, surrounding him with love and positive experiences that we can help him have the best life he possibly can.
Our wonderful friends and family have been so keen to do something to help us and recognised that fundraising is a really practical way of doing this. We have therefore setup Toby’s Trust. Any funds raised will help us to do everything we can to help Toby to reach his full potential and live a life that’s as ‘normal’ as possible.
If you would like to donate to Toby’s Trust to help him fight against the impacts of Dravet please click here.
To find out what we will use any donations for click here.