- Florey PhD student Montanna Waters works a carer with the Williams family, whose daughters Jaeli and Dali live with a severe form of genetic epilepsy known as SYNGAP.
- Montanna’s experience caring for Jaeli and Dali inspired her to pursue neuroscience research at The Florey, where she now studies neurodevelopment in children with genetic epilepsy.
- Jaeli and Dali’s parents founded the SYNGAP Research Fund Australia, which now supports Montanna’s work in the lab with Associate Professor Snezana Maljevic.
Hope for children living with genetic epilepsies
Before she was a Florey PhD student, researcher Montanna Waters was interested in genetic conditions.
While studying biomedical science, she looked for experience outside the lab to better understand the nature of these disorders.
Montanna worked with families whose children required complex medical support.
Being a carer has given me a much deeper understanding of the impacts of the diseases that I research in the lab.
Montanna began working with the Williams family – parents Danielle and Danny, and daughters Jaeli and Dali, both of whom live with a rare form of severe genetic epilepsy.
The first sign that something was wrong was Jaeli’s subtle eyelid ‘flutters’. She was diagnosed with epilepsy at 14 months of age – while Danielle was expecting their second daughter, Dali.
Jaeli’s seizures became more serious and more frequent, with as many as 52 seizures per hour. When Dali was 13 months old, Danielle noticed that she too had eyelid ‘flutters’.
“My heart just sank. I knew exactly what we were in for.”
Both girls faced daily seizures, sleeplessness, speech and behavioural problems, and intellectual disability. “It’s like a game of whack-a-mole. You hit one problem and another comes up. It’s never ending,” Danielle said.
Montanna recalls first meeting the girls. “A seizure is not a nice thing to see. It’s confronting. But I now know the girls very well and their strong personalities.”
The girls are now aged 15 and 13. They’ve endured more than 400 medical appointments, 57 blood tests, 2 lumbar punctures, seen 20 different health specialists and trialled 23 anti–seizure medications, some with harmful side effects.
In February 2016, following exhaustive genetic testing, the girls were diagnosed with a variant in the SYNGAP1 gene, associated with seizures and neurodevelopmental disorders.
Finding a cause was a big relief. Once we had a name, we had an enemy, and we could mobilise to fight it.
Working with Professor Ingrid Scheffer, Director of Paediatric Epilepsy at Austin Health and Honorary Research Fellow at The Florey, they connected with other families whose children had genetic epilepsies and founded the Genetic Epilepsy Team Australia (GETA).
In 2017, Danielle and Danny established the SYNGAP Research Fund Australia. They also met neuroscientist and then-Florey Director, Professor Steven Petrou.
“Steve was pioneering gene therapy for epilepsy, so together, we lobbied the government for funding,” Danielle says. Their proposal resulted in significant funding for The Florey. “This was a big win, it meant that Steve could focus his efforts on precision medicines for genetic epilepsy,” says Danielle.
Meanwhile Montanna, still caring for Jaeli and Dali every week, decided to pursue neuroscience research at The Florey.
“I’m investigating the early neurodevelopment of children with genetic epilepsies,” Montanna says. “Most research centres on seizures and their treatment, but I want to see if genetic variants cause changes in the brain before seizures occurred.”
Under the leadership of Associate Professor Snezana Maljevic, Montanna’s research sheds light on early brain changes that may explain the behavioural and intellectual difficulties children with epilepsy face.
Remarkably, Montanna’s research involves cells that Jaeli donated to The Florey.
“We isolated cells in the lab from a small sample of Jaeli’s skin and, using a series of genetic instructions, we ‘reprogrammed’ them into stem cells. The beauty of stem cells is that we can use chemical messengers to instruct them to become neurons. These neurons can be grown into tiny clumps, called mini-brains.”
By studying these neurons and mini-brains, we can understand the ways the SYNGAP1 gene variants cause problems.
Montanna has since met other families whose children have genetic epilepsies, many of whom have generously volunteered to donate skin cells for their research.
“It always strikes me how passionate they are about getting involved in research, because they see their children suffering every day.”
While Montanna hopes that her work ultimately leads to a cure for this condition, she appreciates that even small improvements could make a “world of difference” for children like Jaeli and Dali, who Montanna still cares for every fortnight.
Danielle says that The Florey is a source of hope for the families of children with SYNGAP.
She is one of the best support workers we have. Who better to work on finding a treatment for our kids than someone who knows them?
“If you have all these complex and intense symptoms – it’s really hard to get through the day,” Danielle says.
“But knowing that researchers at The Florey are working hard to make a difference is enough to keep us going. And to think that something may come out of it, like a gene therapy for our children, that is really special.”
