Jacob, who lives in Bedfordshire, was diagnosed with Dravet Syndrome at 15 months old. His mum, Jenny, shares the family’s Dravet journey.
Jacob was born three weeks early in November 2014. For three months he was a happy baby, sleeping well, and had settled in at home. But at four months, we put him to bed as normal and at 11pm we heard a strange noise from his cot. When we looked at him, he was shaking violently. I had never seen a seizure before, but I knew that something was very wrong and called 999. When the paramedics arrived, they were unable to stop the seizure and he was blue lighted to our local hospital.
In A&E Jacob was given a cocktail of drugs to stop the seizure before being sent for an emergency CT scan to check for any bleeds on the brain. After an hour and a half, the seizure finally stopped. We didn't know what had happened and remained in hospital for ten days while tests were conducted, and Jacob recovered. We were told it was ‘probably a one off' as all the tests had come back clear. We went home and things returned to normal.
However, after a month Jacob had another seizure and began having one tonic clonic seizure a week, each lasting over 25 minutes. We would have to call an ambulance and only after ‘rescue medication’ was given in hospital did the seizures stop. After several admissions we were told Jacob had epilepsy, but he would probably grow out of it, and he was put on his first anti-seizure drug.
We tried to find our feet but were nervous about going out in case something happened. We found ourselves in the back of an ambulance every three days. Another drug was added, and we were given midazolam, an emergency drug to stop the seizures at home. Sometimes this worked, but often he needed further drugs in hospital.
We carried on and in November 2015 at 1am we were woken to Jacob having another seizure. We were at a relative’s house in North London, so Jacob was taken by ambulance to a hospital that did not know him. On this occasion they were unable to stop the seizure and he was put to sleep and placed on a ventilator.
After ten days and, on his first birthday, Jacob was transferred from Paediatric Intensive Care to the children's ward at our local hospital. During our time in PICU they had done a number of tests, including genetic testing. Three months later we received the diagnosis of Dravet Syndrome.
Getting the right medication for Jacob’s seizures
Although it was scary, and we did not know what our child's future was, we had a diagnosis, so he could start the correct medication. Despite being on three anti-Epileptic drugs, we continued to have hospital admissions and Jacob had also developed new seizures, including myoclonic seizures (head drops). He would have over 100 a day and it was causing him injury and constant distress. He lost a tooth and would permanently have a swollen lip.
At 18 months old Jacob started the ketogenic diet which, although tough and a big change for the whole family, we found helped with the myoclonic seizures, which reduced after eight months and completely stopped after 18 months. During this period, he continued to have seizures requiring hospital treatment and we had a further five admissions on a ventilator to various PICUs.
When Jacob was four years old, and after a very tough period with seizures, his neurologist prescribed a drug called Epidiolex (otherwise known as CBD or Cannabidiol) on compassionate grounds. This has been the drug that has worked, we have seen such a big difference in seizures, behaviour and development.
Jacob takes this with four other anti-seizure medications as Dravet Syndrome is a drug resistant form of epilepsy, so this combination may only work for a period of time. We have also found that one combination of drugs which work for one child may not work for another. However, there is research being done on a number of different medications.
Dravet Syndrome is a rollercoaster, but the children and adults with Dravet show you a different way to look at life and their smiles and determination makes everything worthwhile.
Being part of the Dravet Syndrome UK ‘family’
Research is an area that Dravet Syndrome UK invests hugely in as well as awareness and supporting families. We have been part of the DSUK ‘family’ (because that's what it feels like!) since Jacob’s consultant advised us to contact them shortly after we received his diagnosis.
The friendly welcome we received was priceless. We hadn't found our feet yet with Dravet, but they helped put us in touch with other families via the private Facebook group and four months after Jacob’s diagnosis we were attending our first Center Parcs family weekend away with the charity.
When we arrived, we knew no one, but again the welcome we received was lovely. Meeting other families on the same journey and their amazing children was what we needed when our world seemed so uncertain. We came away from the weekend with so many memories and we made friends for life. Our eldest child Oliver met other siblings and has formed friendships as well.
DSUK has also supported us by providing a monitor, which is a life-saving price of equipment. The SATs machine goes everywhere with Jacob, it's used during every seizure and we would be lost without it.
The charity also runs ‘Super Siblings’, where a sibling can be nominated for an award and, if selected, they receive some goodies. All siblings of Dravet children are super, their lives are not the same as their peers. Plans get cancelled and days out might not be ‘Jacob friendly’. We can't travel abroad, but one day we will get the courage to. We have spent a number of Christmases and birthdays in hospital with Jacob, so Oliver has had to miss out. Through all of this he has not moaned about what he has missed.
Finding support for Jacob and the whole family
We are also very lucky to have access to Keech Hospice, our local children's hospice, and they have been amazing. Jacob can stay overnight, which gives us time to recharge and spend some time with Oliver doing the things he enjoys that may not be suitable for Jacob.
I was unable to return to my full-time job after maternity leave, and once Jacob was over 18 months old, baby and toddler groups were unsuitable and I could not find a nursery that met his needs. So, he went to Day Support at the hospice every Monday.
They helped him develop a number of skills, they organised activities, he played in the sensory room, and everything was suitable for him. He had so much fun with the staff and volunteers. They also have a hydrotherapy pool which Jacob loves and it is great for his muscle tone. He actually thinks he can swim! They don’t just support and care for Jacob, but for the whole family. I have also made friends with other mums and we can support each other and thanks to Whatsapp and Zoom we have kept in touch through lockdown.
Jacob is now six and he is a determined, cheeky, and adventurous little boy. He has a development delay and is roughly 18 months to 2 years. He loves nursery rhymes, sensory books and being out in the garden. He attends a local special needs school and they have put measures in place to make sure he is safe. The difference in him since he started has been amazing! He now interacts with other children, plays with toys, and is learning to communicate. He is so happy when we arrive at school. He may not meet the milestones other children do, but he is one of the happiest children I know.
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