“The seizure just would not stop.” One family’s journey with Dravet Syndrome.
Charlene Mundy has a vivid memory of the day her daughter Taylor had her first seizure. At just six months old, she remembers exactly what they did that day, she even remembers what Taylor was wearing.
A very young mum at the time, Charlene didn’t understand what was happening.
“We had put Taylor on her mat for playtime and she started making this grunting noise and had body jerking,” she said.
“My first thought was she had been bitten by a spider. We raced her up to the hospital and soon found out she’d had her first seizure.”
From that day on Taylor has had regular seizures.
Although she was diagnosed immediately with having epilepsy, it would be about seven years before Charlene would learn Taylor had Dravet syndrome – a rare and severe form of epilepsy.
The years in between were marked with numerous paediatrician and neurologist appointments and trips to hospital.
“Taylor had what felt like hundreds of seizures every day,” said Charlene.
She experiences all types of seizures, from generalised tonic-clonic seizures to myoclonic jerks, and eventually many drop attacks, where a sudden loss of muscle strength would cause Taylor to fall to the ground.
“This meant Taylor had lots of head and facial injuries, and as a toddler she had to wear a helmet,” she said.
“She was in and out of absence seizures all day. I look back at baby photos now and I can see – in most of them – Taylor is having an absence seizure. It’s the glazed over look that gives it away.”
Taylor would also go into “status” all the time, explained Charlene.
This is when severe seizures result in status epilepticus (continuous seizures without regaining consciousness in between) which would last an hour or more and mean Taylor would have to be hospitalised.
Status epilepticus is a medical emergency that can lead to permanent brain damage or death.
“There was one seizure that just lasted so long. I remember being in emergency and the seizure just would not stop. One nurse at the scene made an off the cuff comment that this seizure will surely cause some brain damage.”
Charlene feels it’s these severe seizures in particular which have contributed to Taylor’s profound intellectual disability. At 19 years of age today, Taylor has the cognitive ability of a 4-5 year old.
The long road to diagnosis and finding answers in genetic testing
Trying to manage Taylor’s seizures on a daily basis was a constant struggle. No medication was working. In fact, some medications seemed to make her seizures worse.
“Some medications would curb her appetite, some would make her eat more. One of the medications she trialled even made her quite violent,” Charlene said.
As a toddler Taylor wasn’t talking, walking or meeting her developmental milestones.
“We were constantly toilet training,” she said.
“Even when we did hit a milestone, Taylor would have a seizure and she would be back in pull-ups. It felt like taking two steps forward and four steps backwards every time we had a prolonged seizure.”
Desperate for answers, Charlene attended numerous appointments with paediatricians and neurologists.
Over the following years Taylor was also diagnosed with autism, ADHD and an intellectual impairment.
It wasn’t until Taylor was about six years old that one of her neurologists suggested she may have Dravet syndrome, however the cost of the genetic test to confirm this wasn’t covered by Medicare. Charlene also couldn’t afford it at that time.
The family started seeing another neurologist who also suspected Dravet and organised genetic testing, which was paid for by the health service. Genetic tests came back positive for Dravet syndrome.
Charlene attributes Taylor’s Dravet diagnosis as a real turning point for the family.
“Everything started to change from then, once we had that diagnosis,” Charlene said.
“It made so much more sense why she was having all these different types of seizures, why the medications hadn’t been working, and why some medications were exasperating her condition.
“There are certain drugs you should not take with Dravet syndrome and we had been on those for a very long time.
“Having a diagnosis directed us towards better treatments. It also gave us an understanding of the trajectory of Taylor’s disability. Knowing what to expect helped us to plan better. It also helped with funding and gaining support.”
“It wasn’t just Taylor with epilepsy, it was the whole family.”
Taylor’s disability has had a huge impact on the entire family, which includes Charlene’s partner of 17 years, Frankie, and their six children.
“When Taylor was younger, we needed to have an escape plan everywhere we went,” Charlene said.
“We had to ensure we would always have mobile coverage and would pack essentials like medication.
“We would also take two cars so one of us could go to the hospital and the other could continue on with the other kids.”
Charlene and Frankie have also lost a lot of friends along the way, particularly because of the challenges they faced with Taylor’s difficult behaviour.
“The kids have also missed out on going to a lot of places simply because we couldn’t take Taylor.”
Now at 19 years of age, living with Dravet means Taylor still needs assistance with every aspect of her life. She needs help with getting dressed every day, personal hygiene, eating, preparing meals, toileting and communication.
Taylor also has no understanding of road safety or stranger danger, so she needs to be accompanied everywhere she goes.
What has made it easier for Charlene is the love and support she has received from her husband and their kids. Their support also made it possible for Charlene to complete her nursing degree when Taylor was in Primary School.
“All the other children have been wonderful with Taylor. Everyone in the family works as a team and gets things done together.”
Following her diagnosis from genetic testing, and subsequent treatment, Taylor has been largely seizure free during the day for a number of years now. A fun-loving young woman, Taylor loves to spend time with her family and talk about her boyfriend Zac.
Taylor’s current neurologist, Associate Professor Lata Vadlamudi, is currently leading a Queensland Genomics clinical project: Improving the diagnosis and treatments for refractory epilepsy – personalised treatments to improve seizure control. This project will incorporate genomic testing into the model of care for patients with neurological disorders like refractory (uncontrolled) epilepsy. This approach can provide patients like Taylor with a cause for their disorder sooner, to give them better treatment choices, suited to the individual patient. The ultimate goal of this work is to improve quality of care for patients and their families, as well as improving efficiencies in health care.