Solihull family back UK wide campaign for greater awareness of rare condition affecting their son

Beth and Craig Degiorgio 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 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 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.

Beth and Craig’s son, Harry had his first seizure at four months old. He was diagnosed with epilepsy initially, and it was later suspected that it might be Dravet Syndrome as his seizures became longer and longer. He was finally diagnosed with Dravet Syndrome at 16 months old.

To date, the family have had at least 50 blue light ambulance dashes and countless hospital stays.

As well as frequent prolonged seizures, Harry has balance issues, often tripping and falling over, all of which is part of how he is affected by Dravet Syndrome.

Beth says: “Our world came crashing down when we got Harry’s diagnosis. I was told by phone while I was at work. The phone call ended without any offer of support or advice and so we were left to do our own research. Being told that Harry had Dravet Syndrome changed our lives forever. While the rest of the week was a blur, where I spent hours upon hours online, trying to find out what Harry’s life was going to be like and what we as a family were likely to expect.

“One of our biggest challenges has been how unknown Dravet Syndrome is. When Harry first received his diagnosis, it was really upsetting and quite triggering to have to explain and describe Dravet Syndrome to family, friends, nursery and even healthcare professionals.

“When the ambulance has turned up, the paramedics have told me they’ve had to look up Dravet Syndrome on their way to us! We’ve also turned up at A&E and no one has heard of it. You’re dealing with an emergency and your child is in seizure and you realise that you are the expert, and not the medics, and that really is terrifying.

We’ve had great experience with our consultant, we’re grateful to her and our epilepsy nurse is our shining light, but we wish there was more awareness more generally.”

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.

As well as being on a mission to raise awareness of the condition, Beth, along with 14 family and friends, has been taking part in an epic challenge to run 5km every day in May, raise vital funds for Dravet Syndrome UK. So far, ‘Team Harry’ has raised £3,340 the charity.

Beth continues: “We were given a life-changing diagnosis with no support at all, but Dravet Syndrome UK literally scooped us up and from that moment, we thought ‘we’ve found our people’. I cannot put into words how much the support has benefited us as a family.”

“Harry is a born entertainer and despite everything, he is happy and loves to make others happy. He will do funny things like pull faces or do a silly dance just to make people laugh. He loves playing football and adores his sister Tilly who is amazing with him. We are so very lucky to have Harry and although there are some really hard days, he always has that little glint in his eye that gives us all that little bit of happiness we need.”

The Degiorgio 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 more than 550 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 and Trustee, Dravet Syndrome UK, says: “Dravet Syndrome is a rare and devastating condition which has a huge impact on those affected. We are joining with families across the UK to raise awareness and share little moments of what it's like to care for someone with Dravet Syndrome so we can reach 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, please visit www.dravet.org.uk or email the charity at: [email protected]

Join the conversation during Dravet Syndrome Awareness Month in June #DravetAwarenessMonth #LittleMomentsMatter