Fife family back campaign for greater awareness of Dravet Syndrome, a rare life-limiting condition

A Fife couple, whose 41-year-old son has Dravet Syndrome, a rare, life-limiting form of epilepsy, are backing a UK-wide campaign to raise awareness of the condition to help improve diagnosis and care. 

Fiona and Graham Drummond, who live near St Andrews, are among those helping charity Dravet Syndrome UK to spread the word and raise vital funds by sharing their stories during June, which is Dravet Syndrome Awareness Month.

Although officially a ‘rare’ condition, occurring in around 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 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 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.

Fiona and Graham’s son, Robbie, had his first seizure at five months old but wasn’t diagnosed with Dravet Syndrome until he was 21.

Fiona said: “I can remember Robbie’s first seizure like it was yesterday. We had taken him to the local swimming pool for the first time with our two older children.

“I recognised what was happening was a seizure, as I’d worked with young adults with special needs, but it was still a huge shock.

“For years we looked for answers, while Robbie continued to experience prolonged seizures. We became used to being back and forth to hospital. We could never switch off and were always on high alert.

“It wasn’t until Robbie was 20 when he finally had a genetic test.

“Six months later, we received a letter which said that a mutation had been found in Robbie's SCN1A gene and at age 21, we learnt that his condition was known as Dravet Syndrome.

“We were beyond relieved to finally have an answer to our son’s complex and challenging condition, but we were not given any information or support.

“There was only very limited information about Dravet Syndrome on the internet at that time, but it was all related to children and so wasn’t particularly useful to us.

“Having a diagnosis meant that Robbie could be changed onto more appropriate medications.

“During his childhood he had been given every new anti-seizure medicine that became available, but we now know that some of these medications (sodium channel blockers) actually make seizures worse for those living with Dravet Syndrome.”

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 living 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. 

Fiona continued: “While Robbie was growing up, because of the lack of information available, we felt very isolated. We fully appreciate that Dravet Syndrome UK has been instrumental in making knowledge about this devastating condition available to all.

“When we first joined the charity, we attended one of their conferences and it was a complete revelation to encounter doctors who wanted to interact with and even learn from parents.

“It was also fantastic to meet other parents and carers, and absolutely amazing to learn that others were on a similar pathway after so many years of thinking Robbie’s condition was unique.

“Joining Dravet Syndrome UK has made us realise that we’re not alone. Their private Facebook forum for parents/carers is hugely valuable. Being able to connect with others who are going through the same thing is priceless.”

The Drummond family are among those helped by Dravet Syndrome UK. As the only UK charity dedicated to supporting those with Dravet Syndrome, they provide emotional, practical, and financial support for nearly 600 families with the condition. The charity provides education and information for professionals and also funds research into the condition, bringing hope for the future.

 Galia Wilson, Chair of Trustees at Dravet Syndrome UK, said: “Dravet Syndrome is a rare and devastating condition which has a huge impact on those affected.

“We are joining with families across the UK, who are bravely sharing their stories, to raise much-needed awareness, with the aim of reaching even more people in need of our vital support.”

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, paediatrician, or epilepsy consultant if you have one, for a genetic test. 

To find out more about Dravet Syndrome or to support families living with the condition by making a donation to Dravet Syndrome UK visit www.dravet.org.uk