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SCN8A Australia

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SCN8A syndrome is a rare genetic condition caused by changes in the SCN8A gene. It affects how electrical signals are transmitted in the brain and often leads to drug-resistant epilepsy, developmental delays, and other neurological symptoms. SCN8A-related disorders can vary in severity and impact each person differently.

Layla was severely impacted by the disease. Her family have detailed her experience in a Parents’ Report for her treatment team prior to her death and it can be found below.

 

Over the last decade, SCN8A International have worked to advance the understanding of SCN8A and through collaboration with groups such as SCN8A Australia, are getting closer to a cure, or cures, to this horrible disease. To learn more about the International SCN8A Alliance and the work they do, please visit their website.

International SCN8A Alliance

Layla's Dads, Costa and Ghaith, have led the creation of the SCN8A Australia in 2023, which has now united over fifty-four families from across Australia. Please click the banner below to view their Facebook Group.

They have group meetings online and provide up to date information on the disease, often with an Australian context, such as how to traverse the National Disability Insurance Scheme (NDIS). They also provide contact with research and leading world physicians like Dr Michael Hammer, the world specialist in SCN8A Syndrome.

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SCN8A Diagnosis and Treatment Guidelines

The exciting and significant introduction of the first ever SCN8A Diagnosis & Treatment Guidelines is now a focus for the world community. The work lead by SCN8A Italia, SCN8A Nederland, SCN8A UK & Ireland, and the International SCN8A Alliance can be found here:

International SCN8A Alliance Standard of Care

Layla’s family and the SCN8A Australia community are currently writing an application to the National Health and Medical Research Council to have the International SCN8A Diagnosis and Treatment Guidelines formally adopted in all hospitals in Australia and its territories. This will improve the experience of those that suffer from SCN8A Syndrome in Emergency Departments; hospital wards; with allied health services; and allow medical teams to collaborate better. It will reduce suffering and the time spent in hospital by maximising effective treatment experiences, and therefore better treatment outcomes faster.

The National Health and Medical Research Council’s Guidelines for Guidelines that we are working with can be found here:

NHMRC Guidelines for Guidelines

This is a key reason why Costa and Ghaith have asked that their community help raise funds to fight this terrible disease, and honour Layla in the process. Please know that any contribution will have a significant impact towards the ongoing fight against SCN8A-related disorders in practical and measurable ways, such as the SCN8A Diagnosis and Treatment Guidelines discussed. 

With your ongoing support, we can continue to make a real difference in the lives of individuals and families affected by SCN8A. Most importantly, we will collaborate internationally to find a cure, or the cures, to this disease. As Costa has said, we are working around the world together to make sure that SCN8A has nowhere to hide. The flood lights are on the disease in Australia too now - we will beat SCN8A!

Thank you once again for your compassion and commitment. We are deeply grateful for your support. Please donate through the following link:

Parents' Report 2023

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