Charlotte is 25 years old and lives with her mum, Julie. Here’s their story.
Discovering Dravet Syndrome
Although Charlotte was diagnosed with epilepsy at age 2, a diagnosis of Dravet Syndrome was not given until she was 10 years old. Even with the diagnosis made, there was very little information available about the condition, which was further complicated with an additional diagnosis of Chronic Inflammatory Demyelinating Polyneuropathy (another very rare condition).
Support from Dravet Syndrome UK
While desperately trying to find out answers, Julie discovered the Dravet Syndrome UK community. She said: “The support I get from the charity and community of families is fantastic. After finding Dravet Syndrome UK, I no longer felt alone. I found that, no matter what we were going through, someone would know how I feel, or have experienced what we are going through. I have now met other parents and know there is always someone I can vent to!”
As well as emotional support, the charity has been able to provide practical and financial help. DSUK provided a video monitor, so Julie could monitor Charlotte while she sleeps (the majority of her seizures are nocturnal). “The monitoring system means that I feel a little more in control when everything seems to be going out of control,” said Julie.
Julie was also able to access additional support through DSUK's 16+ Adult Assistance Grant, which can be used to provide equipment or items that will enhance the life of the young person living with Dravet Syndrome. For example, Julie used a grant to provide a double bed for Charlotte, which made a difference in several ways: “The bed has two advantages”, noted Julie. “Charlotte is less likely to fall out during a seizure and I can sleep with her when she in unwell, instead of sleeping on the floor. This proved especially useful when she contracted an E-coli infection (leading to another rare illness). I was told to prepare for the worst, but she amazed all of her doctors by recovering. When she was discharged, she was still unwell, so I slept in bed with her. During this time, the Dravet Syndrome UK community really got behind me. Charlotte received so many get well cards and wishes that it was a real boost to both of us.”
Dravet Syndrome – more than seizures
Dravet Syndrome is about more than seizures. Some children and young people with Dravet Syndrome can be prone to injury and additional conditions, and Charlotte has experienced her fair share of ups and downs.
“In July 2019, Charlotte was diagnosed with multiple liver adenomas (yet another rare condition)”, explained Julie. “This was an accidental find, after scans on her chest to investigate why she kept getting pneumonia. One grew so large that it needed removal. This should have happened in 2020, but was postponed due to covid and further postponed when she broke her leg, as she needed to be able to weight bear post-op. Further scans showed that one of the adenomas was showing ‘worrying signs of cancer’ and that she had gallstones.” This also meant that the VNS device that was recommended for Charlotte has had to be cancelled, as this can’t be in situ when she needs regular MRI scans.
“In August 2022 she broke her leg”, said Julie. “She was walking in a muddy field, slipped and shattered her tib and fib. The injury was likened to that sustained by someone involved in a high-speed road or intensive sport accident, not just walking. She was completely non-weight bearing for 4 months. I found the stress and anxiety around this time too much to deal with, along with a full-time job (she was also experiencing many status seizures during this time). I ended up taking 4 months’ sick leave from work.”
At the time of writing, Charlotte’s bones still haven’t healed completely, a complication that may be down to the multiple medications she is on to manage her seizures. Her broken leg also impacted another procedure that she urgently needed.
Charlotte and Julie today
In April 2023, Charlotte eventually had her operation, which removed 20% of her liver, biopsied the ‘worrying’ adenoma and removed her gallbladder.
“Once again, the Dravet community were there for us sending get well cards, videos and messages”, said Julie. “When she came home from hospital, I again slept in her bed with her so I could be on hand immediately. Dravet is so rare that no one really understands what we go through as parents, other than another Dravet parent. For that, this group is wonderful. I would truly feel isolated without it. Thank you to all the charity team and parents for being there.”
Even with all the difficulties, Charlotte is a really happy young lady. She loves music and going to pop concerts, she attends our local stables weekly to groom their ponies and she loves being around her aunts and cousins (she has a 'favourite' system and her cousin, Rosie, is ALWAYS number one). For a treat, she loves a Zoo Keeper experience.