PAEDS Small Talk
Being a parent is a juggle. But what about when your child has an illness, injury or disability? Grace & Sarah are mothers and paediatric nurses in this podcast we chat with parents, carers and health professionals to shine a light on the many families that also manage hospital admissions, specialist appointments, waiting for diagnosis and navigating a world that might not be as set up for their family. We want to know what life is like for them, and understand how we can support them.
Email: contact@paeds.education
Website: www.paedseducation.com.au
Instagram: @paeds_firstaid
PAEDS Small Talk
Ania - A rare diagnosis during COVID, how one family navigated SCN2A and TRAPS
Just before Ania's eldest daughter turned 2 she noticed Grace was not meeting her developmental milestones. She was fairly quickly diagnosed with autism and rapidly linked in with NDIS support.
In 2020 admits the COVID pandemic and after the birth of Ania's third child, Grace began having seizures which resulted in her ending up in hospital to investigate the cause. Genetic testing revealed two rare genetic disorders SCN2A and TRAPS which explained many of Grace's symptoms including her diagnosis of autism and the seizures.
Ania shares not only her journey so far with Grace but also her advice on how to support families and children with autism in a public space with patience and kindness going a long way. But, also how in healthcare we can be adaptable to support children to feel more comfortable during a very stressful time.
The proceeds from this episode go to Epilepsy Australia a not-for-profit organisation and a nationally registered charity and is committed to improving the quality of life for every Australian living with epilepsy and other seizure disorders.
Resources
SCN2A
TRAPS
visit our website at www.paedseducation.com.au
