Maxine has Dravet syndrome, a rare and severe form of epilepsy. Her mum Patricia tells Epilepsy Today about life with the condition, from diagnosis and treatments, to finding independence
Epilepsy comes in all different types and forms, affecting us all in different ways. Some types of epilepsy are seen more commonly and often respond to medicines. But other, rarer types can be hard-to-treat and may be accompanied by other conditions and challenges.
One rare form of epilepsy is Dravet syndrome. This condition can be severe, involving many different types of seizures and some degree of learning disability.
Dravet syndrome is usually diagnosed in childhood, but this isn’t the case for everybody…
Maxine Brightwell is 29 years old and lives in a town called Eye, near Ipswich. She has Dravet syndrome, autism and a learning disability. But unlike most others with the condition, she was only diagnosed five years ago at age 24.
“Maxine was diagnosed in April 2013 at the Chalfont Centre for Epilepsy,” said Patricia, Maxine’s mum. “I don’t know why her Dravet syndrome wasn’t picked up as a child. Maybe research back then hadn’t progressed enough.”
Before getting the Dravet syndrome diagnosis, the family thought Maxine had hard-to-treat epilepsy. “For years we went to Ipswich hospital when she was a child, and to Great Ormond Street Hospital. But nobody ever mentioned Dravet syndrome – I’d never heard of it.
“I suppose it was only first described in the 1970s, so that is quite recent in medical terms. But I don’t think Dravet syndrome is quite so rare. I think it’s rare to be diagnosed.”
A range of seizures
Maxine’s condition started when she was seven months old with myoclonic jerks. At the time, she was diagnosed with epilepsy and put on medicines.
“At the beginning, it was very difficult to come to terms with her epilepsy,” Patricia said. “When she was younger, she used to have lots of myoclonic jerks. She’d be holding a drink or something, and it would go flying. They thought they were related to her temperature. So, in the middle of the night I was taking her out of bed and putting her in a cool bath, which she didn’t like very much. She slept next to my bed for five years, so I could just reach out and feel to see if she was hot.
“For part of her childhood, she also had to wear a helmet, which saved her from banging her head on things. But she didn’t like that at all. She used to take it off and it was hot in the summer.”
Patricia explained that she hasn’t been able to work since Maxine’s seizures started. “I tried to do child minding at home when she was little, but I had to stop when Maxine started having seizures.
“Then after that I couldn’t take a full-time job somewhere else. I’d be forever called away to scoop Maxine off the floor after a seizure. She has problems with her behaviour sometimes too, so I’d have to go and deal with this too. Over the years, Maxine’s condition has restricted things I can and can’t do, but I do get respite.”
As Maxine got older, she began to have a range of different seizures, including tonic-clonics and absences.
“With epilepsy, it’s hard to know how many seizures she has. Generally, she has between eight and 10 tonic-clonic seizures a month.
“But over Christmas last year, she had absolutely loads of tonic-clonic seizures. She was having them all day every day with about 10 minutes in between. It went on all throughout Christmas dinner.”
Maxine takes a few different epilepsy medicines for her seizures. These are sodium valproate, clobazam and zonisamide. She also has a rescue medicine for when she goes into a seizure longer than five minutes or a cluster of seizures. This rescue medicine is called buccal midazolam (or Epistatus).
While Maxine rarely requires her rescue medicine, Patricia had to administer this at Christmas. “I don’t do this very often, but I gave her the buccal midazolam and that stopped her seizures for Christmas Day. But Boxing Day, at exactly the same time, it started again. So, her total number of tonic-clonic seizures for December was 21.”
Treatments and side-effects
Before settling on the epilepsy medicines she has now, Maxine went through around 14 other different types, Patricia said. None have been able to control her seizures, but they have changed the way the seizures have come, Patricia noted.
“With some medicines, the seizures only came in the daytime. With others, they only happened at night. With a third, they happened day and night.”
Maxine has mostly sleep seizures at the moment. This means that as well as in bed, she might fall asleep and have a seizure in places like the car or the cinema. At night, keeping an eye on Maxine’s seizures hasn’t been easy for Patricia. She explained that she has tried different types of bed alarms, but none have worked for her and Maxine.
“At the moment, I just use my ears. Her bedroom is next to mine and I leave both bedroom doors wide open. I’m tuned into her seizures, but it’s the quiet ones I worry about. I have seen her have quiet tonic-clonic seizures when I’ve walked past her bedroom door. I’ve seen her shaking and jerking.”
While Maxine’s seizures are not controlled by her medicines, Patricia believes that it could be a lot worse without them. But they have also had some nasty side-effects on Maxine over the years.
Some of her medicines made her gain weight, while others made her lose a lot of weight. She also had skin problems on the top of her head, which resulted in her losing some of her hair for a while.
“Another side-effect of a combination of medicines was that she was covered in spots from head to foot. So, we had to stop that. Another one was that she couldn’t coordinate her hands and mouth. She was just sitting down and her mouth was falling open – it was awful to see her like that. She was admitted to hospital and taken off those medicines. It’s been a trial and error with the medicines really.”
Maxine has also tried the ketogenic diet (KD) as treatment for her seizures. Patricia explained that for Maxine, this option didn’t work either. “We did the KD for 18 months, and for a while she did follow the diet. But in the end, she was losing weight and after 18 months, she started refusing it. I think this treatment probably has more success with very young children, who won’t have tasted too many different things in their lives. But Maxine had tasted things like crisps and chips by then. It was worth a try though; at the time, I was trying anything.”
Her own world
Growing up, Maxine went to special needs classes in her local primary school. She had a one-to-one support worker and was part of a class of 12. She had to attend a high school in Ipswich which was 25 miles away. She then went to college in Bury St Edmunds, which had a special needs programme. But this was also quite a distance away.
“She was tired on the way there, tired on the way back. Tired with epilepsy medicine side-effects.”
Grappling with changing epilepsy medicines and coping with their side-effects has been difficult on Maxine. Her condition has impacted her life hugely, bringing with it difficult behaviour and injuries because of her seizures. But Patricia points out a bright side to all of this.
“Maxine’s epilepsy has affected her a lot. But because of her severe learning disability, she doesn’t really realise it. She’s not worried about anything. She just exists in her own world, and it’s strange to say, but she doesn’t know any different.”
Maxine goes out with her carers in the week. She goes to Thornham Walled Garden, where she can walk the dogs on the estate, help feed the chickens and make food.
“She loves it,” Patricia explained. She added that Maxine also goes out with the carers to go bowling, trampolining or to the cinema. “She also likes swimming, which can be dangerous if you have seizures. But her carers inform the lifeguard at the pool where they go, and one of her carers is in the water next to her as well. She enjoys some films that she can relate to, and likes listening to her DVDs through headphones.”
Looking for independence
Another effect Dravet syndrome has had on Maxine is that she has not been able to have much independence. This has shown itself at home, causing arguments and difficult behaviours.
“In her way, she must be anxious,” Patricia said. “There is a degree of her that wants independence, but on the other hand she is so vulnerable. If a car drove by and someone said ‘Here’s a bag of sweets, get in’, she’d go. She’s vulnerable because of her learning disabilities and her epilepsy. All her life, she’s always been with people that know 100% how to deal with her condition. She’s never ever been anywhere independently.
“But her life is going to change soon.”
Patricia said that she has worked with their social worker to find a place for Maxine to live independently. They’ve been looking for a place to meet a checklist of important criteria, including not being near stairs and not being too busy. And a place in Bury St Edmunds finally met the standards they needed.
“It’s about a half an hour drive away, but it’s a nice town and a brand new flat. It’s on the ground floor, with no stairs in sight. It’s owned by a care agency called Dimension, and the building has about 14 flats. The people living there have learning disabilities.
“The place has its own little garden, just for her, and a little patio. It’s got a nice soft carpet in the lounge, bedroom and hallway – which is good in case she has a seizure. It also has an induction cooker, which is amazing. When it’s on, it’s still cold, and you get special pots and pans for it that can heat up.
“She would have day care from 7am to 10pm. At night time, she would have a bed alarm and an alarm on the door in case she wanders out. It hasn’t been 100% sorted out yet, and Maxine doesn’t know yet. Otherwise she’ll start packing right now!”
A better quality of life
Since Maxine got her diagnosis of Dravet syndrome, she and Patricia have found a lot of support from Dravet Syndrome UK. This is an organisation set up to improve the lives of people living with the condition. They aim to do this through support, education and medical research.
The organisation organises a conference on Dravet syndrome every two years. They bring together medical professionals and families affected by the condition. Patricia attended one conference in London and was left impressed and amazed.
Getting the Dravet syndrome diagnosis has meant that Patricia can better understand her daughter’s condition. It has allowed her to get more specific support and information and follow ongoing research in the field. And there is one thing she is hoping that research will lead to.
“I would like to see work on trying to control these devastating damaging seizures. That should be the aim of it, I think. And to give everybody a better quality of life.”
The team at Dravet Syndrome UK answer some questions about this rare condition
What is Dravet syndrome?
Dravet Syndrome is a rare and severe type of epilepsy. The condition was first described in 1978 by Charlotte Dravet, a paediatric epilepsy specialist working in Marseille, France. It usually starts in early childhood and is sometimes called catastrophic epilepsy. It is estimated that Dravet syndrome affects one in 40,000 people. However, recent data suggests the real number is closer to one in 19,000 people.
What are some of the recognisable features of the condition?
Seizures happen often and can be prolonged. This type of epilepsy is usually resistant to medicines, and a few epilepsy medicines are needed to help with seizures. Emergency medicine may be needed for prolonged seizures.
In young children and babies, a slight rise in temperature might trigger seizures. This could be because of hot weather or water, or because of illness. Dravet syndrome often starts with prolonged seizures in the first year of life often triggered by a fever. Children develop normally in the beginning, and symptoms start to appear from the second year. They include developmental problems, such as lack of muscle control and an unusual walk.
People who have very long seizures are at risk of death. People with Dravet syndrome are at a higher risk of sudden unexpected death in epilepsy (SUDEP) than many other types of epilepsy. But it’s important to remember that, as with all epilepsy, with Dravet syndrome each person is affected differently.
Are there any causes?
About four in five people with Dravet syndrome (80%) have a mutation – or change – in a gene called SCN1a. This mutation nearly always happens by chance, and so it is not passed down from parents. Much more needs to be understood about the causes of Dravet syndrome and research continues to be done.
When is it usually diagnosed and what is the diagnosis process like?
Diagnostic tests are available through the NHS in the UK. Even if the SCN1a test comes back negative, Dravet syndrome should not be ruled out if the person has the clinical symptoms. Dravet syndrome is very under diagnosed, especially in adults. But, things have moved on in the last few years. On average, families are receiving a diagnosis much sooner but there is still some way to go.
What treatments are there for Dravet syndrome?
Unfortunately, there is no cure for Dravet syndrome. Treatments aim to control or minimise seizures. This helps reduce the impact on development and reduce injuries due to seizures. Epilepsy medicines are used, but they are not always effective in people with Dravet syndrome. The options at the moment are sodium valproate, clobazam, stiripentol, topiramate and levetiracetam. Other treatments include the ketogenic diet and vagus nerve stimulation (VNS). There are new potential treatments being trialled at the moment, such as a cannabis-based medicine which could help with myoclonic seizures. And there are more in the pipeline.
While seizures need to be managed as a priority, it is also important to manage the other health and developmental issues a child may have. It is necessary to organise developmental assessments with a range of therapists and specialists. It’s best to get these referrals as early as possible, even if a child isn’t showing any signs of developmental delay or difficulty. Children with Dravet syndrome often need physical, occupational, speech and social or play therapies, depending on their needs.
How does Dravet syndrome affect life for the person and their family?
Everyone experiences Dravet syndrome differently. Some have speech some have no speech, one may walk, the other may not. Many people with Dravet syndrome have sleeping issues, feeding problems, behaviour problems and the vast majority have learning disabilities at some level. Later in life, people may also have mobility problems.
Dravet syndrome has a huge impact on families and affects every aspect of family life. Often, one parent becomes a full-time carer for the person with Dravet syndrome, which may mean a reduced income. Families can experience huge levels of stress on a regular basis due to their child’s condition. Many parents experience lack of sleep through monitoring their child at night. It can also be difficult for brothers and sisters. They may see things like their sibling having seizures or staying in hospital, which can be difficult or upsetting for them. They may also end up missing out on things like special events or parties. Holidays are a rarity for families, and a trip takes a huge amount of planning. This all has a long-term negative impact and due to such a high level of care constantly needed, respite is vital for these families. Respite is a service that can help people whose child has more needs than others. People can find out more about this from their doctor, epilepsy specialist nurse, social services agency or local authority.
What can people expect in adulthood?
The number of seizures people have may improve, but adults with Dravet syndrome will still need a high level of care. For families, seizures can be more difficult to handle, finding it harder to lift or move the person. Injuries from falling during a seizure can be more severe.
What help is there for people?
Receiving a diagnosis can be a big shock. Living with Dravet syndrome can be very isolating and lonely for families but they are not alone. Having support is vital and learning more about your child’s condition can be empowering for parents.
Dravet Syndrome UK supports people affected by Dravet syndrome. The charity provides night-time monitors, holds a conference for families and professionals every two years, and runs an online forum for families. They also put on a family weekend at Center Parcs, run a 16+ assistance fund and help fund research into the condition. Contact Dravet Syndrome UK for more information:
Dravet Syndrome UK
Tel: 07874 866 937