A FLINTSHIRE family is backing a UK-wide campaign to raise awareness of a rare condition to help improve diagnosis and care.  

Kelvin and Heather Hughes, who live in Buckley, are among those helping charity Dravet Syndrome UK to spread the word by sharing their stories during June which is Dravet Syndrome Awareness Month.

Their 14-year-old son, Iwan, wasn’t diagnosed until he was four years old, despite having seizures and repeated ‘blue light’ ambulance dashes to hospital since he was just eight-months-old. 

Iwan was initially diagnosed with febrile convulsions, then complex febrile convulsions and Epilepsy over a period of three years and was put on a series of different anti epilepsy drugs, some of which made things worse. 

As well as seizures, Iwan has problems with mobility, global developmental delay, autism and ADHD, which are all part of how he is affected by Dravet Syndrome. 

The Leader: Iwan with his older sister, Ceri.Iwan with his older sister, Ceri.

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In the early days Iwan had large, long-lasting seizures every week, where his parents would have to call 999. These days, his seizures are much more controlled, but he still has large seizures after which it takes considerable time to recover. 

Kelvin said: “Raising awareness is vital to ensure that more individuals with Dravet Syndrome are correctly diagnosed. As well as children, we know that there are adults out there who are still undiagnosed.  It’s very worrying, as it means they won’t be getting the support they need, and they are likely to be on medication that can make their seizures worse. 

“Having greater understanding around the condition will also help people like Iwan who are already diagnosed. People tend to just see the epilepsy, even the medics. They don’t realise that Dravet Syndrome is so much more than that. They might not realise, for example, that Iwan needs a wheelchair to get around as his mobility is badly affected.”  

Kelvin has also been a Trustee of Dravet Syndrome UK for the past six years. His way, he says, of “giving back” to the charity which has supported his family. As the only UK charity dedicated to supporting those with Dravet Syndrome, they provide 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. 

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Although officially a ‘rare’ condition, occurring in around 1 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 around 85% 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 SUDEP (Sudden Unexpected Death in Epilepsy) compared to other epilepsies.  

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 children 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.  

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Galia Wilson, Chair and Trustee, 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, please visit www.dravet.org.uk or email the charity at: info@dravet.org.uk