52 seizures an hour: the brave parents searching for a cure for their daughters’ rare condition
After years of watching their daughters endure thousands of seizures and not knowing the cause, these brave parents finally had an answer. Now, they are on a quest for a cure,
It’s not uncommon for parents to lovingly joke their clumsy toddlers may need a crash helmet. Yet, for the past five years, crash helmets have been standard attire for Melbourne sisters Jaeli and Dali Williams. Every day, whether at school, kinder, the shops, while playing in the sandpit or eating at the kitchen table, Jaeli and Dali have had to wear protective head gear because they suffer seizures.
“We were walking along one day and Jaeli just dropped to the floor unconscious,” says their mother, Danielle Williams. “She fell flat onto her face and broke a tooth. During another seizure, she fell backwards and smashed her head on a cornice at home and was rushed to hospital. We are haunted by seizures. It’s terrifying – there’s no warning, no pattern – at any time their bodies just stop.”
At their worst, the sisters, now aged seven and five, have endured up to 52 seizures an hour and were suffering from at least five different seizure types, from randomly dropping to the floor while walking, to suddenly thrusting backwards onto the ground or jerking involuntarily, throwing whatever may be in their grip.
“By the age of two, Jaeli couldn’t eat without having a seizure and throwing a fork across the room as her body shut down,” says Danielle. “She had gashes in her head from flinging back. You couldn’t just put her on the floor and do her shoes up without her thrashing backwards and falling over. She might fling back and hit a wall or hit her head, and Dali was the same. We had to watch them every minute of the day and their schools wouldn’t let them attend without them wearing helmets.
“Our house is cushioned, we don’t have any sharp edges, there’s no coffee table – every surface is soft and covered in carpet to try to protect them.”
For years, Danielle and her husband, Danny, endured a needle-in-the haystack search for an answer to what was causing their girls’ illness. At first, Jaeli and Dali were diagnosed with epilepsy, but after unsuccessfully trying 16 different anticonvulsant medications they knew this wasn’t the answer.
Now, finally, a world-first test is available in Australia, providing the much longed for piece to a heartbreaking medical jigsaw puzzle. Using a cutting-edge genome sequencing test, researchers at Australia’s Garvan Institute have diagnosed Jaeli and Dali with a rare neurological condition called SYNGAP1, which affects just
100 children worldwide. The condition is a rare mutation of the vital SYNGAP1 protein that causes both intellectual and physical impairment. “We know now that there is only one other family in the world that has two kids with SYNGAP1 and they’re identical twins. So we really are rare,” says Danielle.
Before the diagnosis, the Williamses beat a path to every door that potentially offered help, consulting 20 different specialists, including paediatricians, psychologists, geneticists, toxicologists, Chinese herbalists, dietitians and metabolic doctors.
Incredibly, the girls endured 45 different blood tests and, in the end, the Williamses were given 22 different diagnoses of what was wrong with Jaeli and Dali, ranging from autism and ADHD to heavy metals in their blood and food allergies.
It was a flicker in her daughter’s eye that brought Danielle’s world crashing down. Dali, with her mop of caramel curls, had just celebrated her first birthday, but when Danielle noticed a gentle butterfly-like movement in her eyelids, her heart sank. “All I could think was, ‘Oh, no, here we go again’, and I just knew,” she says. For Danielle and Danny, it signalled that Dali was most likely following in the footsteps of her big sister, Jaeli, who was suffering what they thought was a rare and extremely debilitating form of epilepsy.
“When I fell pregnant with Dali, I asked our doctors if there was any chance the baby could be born with the same thing that Jaeli had, and I was told, ‘No, don’t worry, you’ll be fine’. When she was born, I was looking for any little symptom, but she was fine and so, for 12 months, we lived in a blissful bubble with our baby, who seemed perfect. Then, not long after her first birthday, I noticed an eye roll and I didn’t say anything, I wanted to be sure. So I held onto it for about a week and began to see more of it happening, and then I knew. It was devastating. The thought of going through it all again was absolutely terrifying.”
For the first 12 months of their eldest daughter Jaeli’s life, Danielle and Danny were like any smitten new parents. They were blissfully unaware that something was wrong with their beautiful baby. “It was 10 fingers, 10 toes, good to go!” Danielle says, smiling. By her first birthday, Jaeli was a little delayed with her milestones but nothing alarming, and no one raised any red flags with the new parents. It was Danny, an osteopath, who first noticed a slight twitch in his daughter’s eye, a flickering of the lids, along with a slight rolling of the eyes that seemed unusual. They went to
see a paediatrician. He told them that if it was still happening in six months to come back. Yet, as the flickering increased, Danny was convinced it was something more sinister, so they rushed Jaeli to the emergency room at the Royal Children’s Hospital, Melbourne. Her father’s gut instinct was right and, within a few hours, Jaeli was diagnosed with epilepsy, but it was just the beginning.
Jaeli’s condition worsened – her speech was delayed, she was showing behavioural issues and severe ataxia, a total loss of bodily control. Then came alarming signs of self-harming. “I said to our doctor, ‘The only way I can describe her behaviour is psychotic’, and the doctor replied, ‘You can’t say that for a child’,” Danielle recalls. “I didn’t have another word for it – she’d go absolutely crazy and nothing I did would calm her down. She used to wake up every morning at 2 or 3am for no reason, just hysterical, screaming, crying. For two years, she pulled her hair out, so on one half of the side of her head she had no hair.”
The family tried every possible medication as well as herbal treatments but nothing worked.
“Jaeli’s seizures were the worst they’d ever been,” says Danielle. “We felt like we were racing the clock to help our little girl. The longer the seizures persisted, the more damage was being done. Our vision of our happy, healthy normal little girl was slipping away with every failed treatment. We were absolutely heartbroken.”
And there was more heartbreak to come. Dali was also diagnosed with epilepsy just after her first birthday, a devastating blow for the family. Late last year, the frustrated mum took her search for answers global. She knew the symptoms of her daughters’ condition, but none of the diagnoses they’d received were determining the actual cause. Desperate for answers, Danielle, contacted an online medical forum, CrowdMed, and came across a medical detective from America who suggested she have a full genome sequence done, a test which determines the order of DNA.
They found a laboratory in Sydney that could do the test. Each family member had to be tested at a cost of $6000 per person, but Danielle figured it was money well spent.
In April last year, the results were in and the family finally had an answer. “It is mind-blowing for us to finally have a diagnosis. After five years of sleepless nights, it is a godsend. I was overwhelmed at first because we’d been searching for an answer for so long. It gave us a sense of empowerment that we had a name for it, we finally had something to anchor to.”
Even so, the girls’ future is hard to predict. Both have little language and their behaviours and seizures are difficult to manage. They can’t walk in a straight line. As yet, the life expectancy of children with SYNGAP1 remains unknown.
Danielle has become actively involved in Bridge The Gap, a collective of parents worldwide who are pushing hard to raise money for a cure. The organisation is focusing on supporting research at The Florey Institute in Melbourne to determine if any existing medications can be repurposed to treat the extreme seizures of SYNGAP1 sufferers.
“We’re now more informed, but still so far from making a difference in our girls’ lives,” says Danielle. “The diagnosis has given us a lifeline and hope we didn’t have. We’ll keep fighting for a cure, to ensure our daughters are happy, seizure-free and connected to their world.”
TOP: Jaeli during one of the many stints in hospitals she and her little sister have endured while undergoing tests. ABOVE: Danny with Jaeli and newborn Dali in 2011.
Despite their daughters’ complex health needs, Danielle and Danny say, “We try to have fun together and instil a sense of belonging and unconditional acceptance in the girls.”