A REDDITCH mum is backing a UK-wide campaign to raise awareness of Dravet Syndrome in order to help improve diagnosis and care.
Lyz Cund’s daughter Josie-Mae has the condition, which is a rare, life-limiting, form of epilepsy.
She is among those helping charity Dravet Syndrome UK to spread the word 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.
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.
Lyz’s daughter was diagnosed when she was one year old after months of seizures and ‘blue light’ ambulance dashes to hospital.
Josie has ended up in Resus twenty times. As well as seizures, Josie-Mae has delayed development, which is part of how she is affected by Dravet Syndrome.
Lyz said: “The fact that Dravet Syndrome is not well known or understood, even in hospitals, has made things even tougher.
“There have been times when I’ve taken Josie to A&E and the children’s ward and I’ve explained to medics that she has Dravet, rather than another type of more common epilepsy, but they haven’t heard of it, so I’ve felt completely dismissed, they’ve looked at me like I’m mad.
“When you are in an emergency situation, and your daughter’s life is at risk, it’s just so stressful to be also having to explain what her condition is at the same time. I’ve had to really stand my ground in order to be listened to and taken seriously.”
Lyz’s family are among those helped by Dravet Syndrome UK.
As the only UK charity dedicated to supporting those with condition, they provide emotional, practical, and financial support for more than 550 families.
The charity also provides education and information for professionals and funds research into the condition.
Lyz added: “Early diagnosis is absolutely key. Once you have the correct diagnosis, there are treatments and medication that are only available to Dravet patients.
“Before Josie was diagnosed, because of a lack of awareness, she was on a type of anti-seizure medicine – a sodium channel blocker- which aggravated the condition. is.”
Galia Wilson, chair 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.
Visit www.dravet.org.uk for more information.
