Stopping the fear and stigma of seizures

24 March 2022
Purple Day

With over 50 subtypes and 400 known genes, epilepsy is one of the most genetically studied disorders. It affects one in 200 children in Australia and one in 20 children will have at least one seizure during their childhood. Currently, there is no cure.

Dedicated to delivering hopeful outcomes for these children are the teams across Sydney Children’s Hospitals Network (SCHN). It’s an effort needing collaboration, eyeing statewide and national resources, seeking global influence, but always putting the children and families first.

Epilepsy is a neurological disorder where a temporary disruption of brain activity causes seizures. It’s the fourth most common brain disorder after migraine, stroke and Alzheimer’s disease. For 50 per cent of people with the condition, the cause remains unknown.

The many different types means people’s experiences differ greatly. For some, it’s age-limited and the seizures eventually stop, but for others it’s a life-long condition. Many children with epilepsy also have other conditions, such as learning difficulties, making it complex and difficult to treat.

For those living with epilepsy, the uncertainty can raise fear, emphasising the great need for knowledge and awareness. Information and resources can lead to a deeper understanding of the condition and pave the way to diagnoses, management and treatment.

Postdoctoral Research Fellow Dr Eden Robertson, CoGENES, Sydney Children’s Hospital, Randwick (SCH) and UNSW, explains a lack of information often leaves families in distress. To address this, caregivers of children with a severe and rare genetic epilepsy have been given an avenue to ask the questions they need answered about their child’s condition, called GeneCOMPASS.

“The families have clearly told us they need more information. They are struggling. We are providing this information to them in the hope of reducing their distress..."

"We have thought about sustainability too. We are developing resources that can be disseminated beyond families in GeneCOMPASS, to healthcare professionals and internationally through our Paediatric Epilepsy NSW website,” Dr Robertson said.

The project, spearheaded by Professor Annie Bye and Dr Emma Palmer, opened last month and is component of Gene2Care. It has so far enrolled 25 families across SCHN and answered almost 20 of their questions. It’s about linking families with the highest quality information, that is relevant and very importantly, easy to understand.

Sitting just outside the realm of information is the need for psychosocial care, which involves responding to the family’s emotional and psychological needs.

“We hear their stories a lot and often they're very similar. They're very isolated and feel very alone in their experience..."

"Even though these families each have a unique genetic cause, we felt connecting them would be really useful,” Clinical Genetic Counsellor at SCH, Rebecca Macintosh, said.

Macintosh ran the SCHN and CoGENES Genetic Epilepsy Family Day, held last October and attended by dozens. It was structured around what the families wanted from the day and due to its success there are plans to make it a recurring event.

Listening to the families’ needs is crucial to creating a psychosocial care plan. The video series, Finding A Way, was developed in collaboration with families with genetic epilepsies across SCHN. The series is narrated by experienced child psychiatrist Dr Kenneth Nunn and was part of Suzanne Nevin’s PhD research.

“Children with severe genetic epilepsies and their families just go through a really, really terrible time trying to stop their children having seizures, fearing they'll die and putting up with other comorbidities like sleep disorder, intellectual disabilities and cerebral palsy..." Clinical Geneticist at SCH Dr Rani Sachdev said.

"They're really, really beautiful children who just suffer on a daily basis.”

The six brief episodes guide parents and caregivers through the experience, from “Shock, confusion uncertainty” to “When the struggle feels too much” and then “Putting the pieces together and going forward”. The eloquent talks reflect different voices and different stages in the journey, from the joys to the heartache.

However, support is a two-way street. It’s a journey not only for the families, but for their clinicians who work so closely with them. To provide the best clinical care to a patient, you need a clinical care team that’s supported and empowered. This can sometimes be overlooked.

“It can be a complicated field for families to traverse emotionally and practically. We’re finding clinicians are getting burnt out and may struggle to navigate the complexity of the child’s diagnosis and the chronic psychosocial impacts on families..."

"So making sure clinicians are also appropriately supported in their role is also really important,” PhD Candidate Suzanne Nevin, SCH and UNSW, said.

ClinEquip is a new research initiative aiming to understand the unique experiences of clinicians caring for children with severe epilepsies. The overarching goal is to develop a suite of resources to support clinicians as they navigate through the challenges, including managing pervasive clinical uncertainty and the fear of communicating incorrect or distressing information to families. These are feelings which are exacerbated by limited available treatments.

Without a cure, the focus turns to treatment, which leans on the research. To facilitate this, the first ever NSW Epilepsy Biobank has been established. A biobank is a collection of human biological samples with linked information about the sample stored in a systematic way for a range of research studies.

“The biobank will give us a solid foundation to progress to the next stage of the research and new therapeutics options, which is the ultimate goal..."

"The more you know about how the disease works and its underlying mechanisms, the more options you have for how to treat it,” Associate Professor Seo-Kyung Chung, Head of the Translational Neurogenomics group at Kids Research and University of Sydney, said.

Biobanking is about storing samples for a long time, for purposes that can’t be explained at this point in time. When samples were biobanked 20 years ago, it wasn’t known that next generation sequencing would come along to revolutionise gene discovery.

Professor Mark Rees, FMH Deputy Executive Dean at University of Sydney, explains all the samples from all different parts of Sydney will go into this statewide biobank.

“It gives us a team mentality of connecting the permissions together across different hospitals. Biobanking is a great research and clinical infrastructure that attracts a lot of people to be part of something bigger than themselves.”

As you can see, the teams across SCHN are working from all sides to stop the fear and stigma surrounding epilepsy by providing care to the patient, their families and their clinicians through education, support and research.

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