A couple has told of the devastating details of resuscitating their young daughter's "limp and lifeless body" over 100 times as a result of a rare condition. Sam and Mike Slocombe are sharing their family story which includes reacting quickly to regular seizures.
The couple, who live in Okehampton, Devon, have a daughter, aged nine, with Dravet Syndrome - a rare life-restricting form of epilepsy. They are sharing the harrowing details of life with the condition to back a UK-wide campaign to raise awareness in order to help improve diagnosis and care.
Although officially deemed 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 approximately 85% of cases, it is caused by a mutation in a gene known as SCN1A, Devon Live reports.
It is not uncommon for people to have multiple seizures day and night, in some cases hundreds. There is also a much higher risk of Sudden Unexpected Death in Epilepsy (SUDEP) compared to other epilepsies.
Sam and Mike's daughter, Paige, was diagnosed at one-year-old after months of seizures, repeated trips in an ambulance and stays in ICU. As well as seizures, Paige has problems with her mobility and with swallowing, and she has global development delay and autism, all of which is part of how she is affected by Dravet Syndrome.
Her father Sam, said: “Paige lived a normal life up until she was seven months old when she had her first seizure whilst in the bath. I had never seen a seizure before, and I thought she was going to die. I carried her limp and lifeless body into the bedroom and called 999. Paige was rushed to hospital where a huge team of doctors battled to save her life. She was resuscitated numerous times over the next two hours."
Paige spent a few days in hospital recovering and was sent home with a diagnosis of febrile seizures. A few weeks later she suffered another seizure at home and was rushed to hospital. This time the seizure was "so tough on her little body" that her airways collapsed. She was put into an induced coma and sent to intensive care.
In 2018, Paige had a Vagus Nerve Stimulator (VNS) implanted, which her mum says, has transformed her quality of life. In vagus nerve stimulation, a device is surgically implanted into the chest, like a pacemaker. The device sends a small electric shock to the brain which can stop a seizure before it happens.
Because Dravet Syndrome is a spectrum disorder, not everyone responds in the same way to treatments. Thankfully, VNS therapy has worked well for Paige. She still has big seizures, but not as frequently as she did before she had the VNS fitted, when she was having full ‘tonic clonic’ seizures every couple of weeks.
Sam continued: “Paige has a reg flag with the local ambulance team due to the severity of her condition. Because she stops breathing, the air ambulance is usually required to attend to each call out. She spent four years having seizures every two weeks and either being airlifted each time or, if she was too unstable, having the air ambulance doctors take her by road ambulance. Paige is incredibly strong and resilient and has for sure made me the person I am today. I am in awe of her positively and strength. I am so grateful she’s still with us."
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 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.
Sam added: “Greater awareness of Dravet Syndrome would make such a difference to families like ours. Having a child with Dravet is quite scary. When your child is fighting for their life, you want a professional to take you under their wing, put you at ease and explain what will happen.
"I have probably met just one or two medics over the last nine years of Paige’s life who knew what Dravet was, and we have met so many. I feel it’s important to raise awareness so that children who aren’t yet diagnosed get the opportunity to be discovered and get an early diagnosis. I really believe Paige is doing as well as she is due to having an early diagnosis, the right drugs and best medical care.”
The Slocombe 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 also provides education and information for professionals and funds research into the condition.
Galia Wilson, chair and trustee of Dravet Syndrome UK, says: “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
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