A MUM from Rhyl, whose eight-year-old son has Dravet Syndrome, a rare, life-limiting form of epilepsy, is backing a UK-wide campaign to raise awareness of the condition.

Emma Hall is among those helping charity Dravet Syndrome UK to spread the word by sharing their stories during June which is Dravet Syndrome Awareness Month.

Emma’s son, Harry, was diagnosed when he was one year old after months of seizures and repeated “blue light” ambulance dashes to hospital.

Although officially a “rare” condition, occurring in about one in every 15,000 live births, Dravet Syndrome is one of the most common genetic epilepsies, as well as one of the most treatment-resistant.

In about 85 per cent of cases, it is caused by a mutation in a gene known as SCN1A.


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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 SUDEP (Sudden Unexpected Death in Epilepsy) compared to other epilepsies.

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.

For example, some commonly used epilepsy medications, known as sodium channel blockers, can make seizures worse for those with Dravet Syndrome.

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.

Emma says: “Harry had his first seizure at six months old. We raced him to A&E; we didn’t know what was wrong with him.

“When we got to A&E, the medics all started working on him to try and stop the seizure; it was just so frightening - the worst moment of your life as a parent.

“In those early days, it was normal for us to be ‘blue lighted’ to A&E five or six times a month.

“After a while, we had genetic testing and an MRI, and after a long wait of 10 months, it was confirmed that Harry had Dravet Syndrome.

“It would make such a difference to us and other families if there was more awareness around Dravet Syndrome.

“In A&E, for example, there’s often not much awareness of Dravet and you find yourself having to explain what it is again and again, when all you want to do is focus on your child.

“It’s different once we get to the children’s ward at Glan Clwyd Hospital, because they know Harry and my sister works on the ward and they are brilliant there.

“We’ve been lucky in getting the support that we need for our family, but I know other families who have really struggled to get support in place. It’s a bit of lottery and it shouldn’t be like that.”

Emma’s family are among those helped by Dravet Syndrome UK.

As the only UK charity dedicated to supporting those with Dravet Syndrome, it 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.

Galia Wilson, chair and trustee at 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.

f 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, please visit www.dravet.org.uk or email the charity at: info@dravet.org.uk.