Dravet Syndrome: Sheffield youngster Penny Podmore, four, suffers 40 seizures in a day, reveal parents

Despite her young age, the youngster from High Green has already made the journey several times.

It has been part of her young life as a result of suffering a rare condition which causes her to suffer as many as 40 seizures a day.

Although not all are serious, the worst ones have in the past led to her being kept in intensive care by doctors.

Penny has Dravet Syndrome – a rare, life-limiting, form of epilepsy.

Parents Carrie and Adam have been told by experts that although it is officially a ‘rare’ condition, occurring in around one in every 15,000 babies, Dravet Syndrome is one of the most common genetic epilepsies, as well as one of the most treatment resistant. In around 85 per cent of cases, it is caused by a mutation in a gene known as SCN1A.

It's not uncommon for individuals to have multiple seizures day and night, in some cases hundreds. There is also a much higher risk of Sudden Unexpected Death in Epilepsy compared to other epilepsies.

Attention-deficit hyperactivity disorder (ADHD)

Epilepsy is just one part of the condition. As well as seizures, Dravet Syndrome causes learning disability and a spectrum of associated conditions, which may include autism, attention-deficit hyperactivity disorder (ADHD), challenging behaviour, and difficulties with speech, mobility, feeding and sleep.

Because child and adults with Dravet Syndrome have such complex medical needs, often requiring emergency care, lack of awareness can make living with this devastating condition even more challenging for families. Some commonly used epilepsy medications, known as sodium channel blockers, can make seizures worse for those with Dravet Syndrome.

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Carrie and Adam’s daughter, Penny, was diagnosed aged 20 months, after months of seizures and repeated ‘blue light’ ambulance dashes to hospital.

Penny has up to 40 myclonic seizures (shock-like jerks) a day which can cause her to fall over or drop what she is doing.

Kept in intensive care

She also still has bigger ‘tonic clonic’ seizures which in the early day caused her to be kept in ICU on numerous occasions. Penny’s speech and language and coordination are also severely affected by Dravet Syndrome.

Carrie says: “I found Dravet by Googling Penny’s symptoms and seizure pattern. I was so sure that was what she had that I repeatedly brought it up with her consultant.

“They said it could be lots of things which were less rare, and she was tested for those first. But after a while, they suggested that she be tested for Dravet. The results came back nine months later, but in the meantime, the consultant was 99 per cent sure that it was Dravet and had been treating Penny as though it were Dravet, so we were fortunate in that respect.

“One of the problems we constantly encounter is lack of knowledge of Dravet Syndrome, for example in A and E and among paramedics. In an emergency, you call for an ambulance and explain that she has Dravet and then you have to explain more about what it is. We’ve been in the situation where Penny is being blue lighted to hospital and the paramedics have literally been Googling it in the ambulance on the way to the hospital.

Raising awareness

“Raising awareness is so important as it can be so lonely and difficult when people don’t have any clue as to what Penny has and how it affects her. They don’t understand the severity of Dravet or the urgent nature of dealing with a seizure, especially if it is prolonged.

“People just think the seizures resolve themselves, but Penny was in ICU on numerous occasions in the early days. If more people knew about Dravet, it would make the world of difference to families like ours.”

The Podmore family are among those helped by the charity Dravet Syndrome UK, which provides emotional, practical, and financial support for more than 550 families with the condition. The charity also provides education and information for professionals and funds research into the condition.

By raising awareness of the condition, Dravet Syndrome UK hopes more people can receive an earlier diagnosis and get timely access to the treatments, therapies and support they so desperately need. The charity also wants to increase understanding about the huge impact that Dravet Syndrome has on the lives of families, as they often struggle to get enough help.

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Galia Wilson, chairman and trustee of Dravet Syndrome UK, said: “Scientific understanding of Dravet Syndrome has improved significantly during the past decade. The availability of genetic testing has helped increase diagnosis and now there are newer, more effective treatments available too, such as fenfluramine, which has been recently recommended by NICE.

“But wider awareness is needed to bring attention to these advances if they are to bring real-life benefit to as many patients and their families as possible. We are grateful to all the families who are sharing their stories during Dravet Syndrome Awareness Month. We hope that by shining a light on this catastrophic condition more families can get an early diagnosis and the vital support that they need.”

Early signs of Dravet Syndrome include prolonged seizures (often triggered by fever) in early infancy.

If you suspect that your child has Dravet Syndrome, you can ask your GP, or epilepsy consultant if you have one, for a genetic test. To find out more about Dravet Syndrome, log onto www.dravet.org.uk or email the charity at: [email protected].