Ania - A rare diagnosis during COVID, how one family navigated SCN2A and TRAPS

PAEDS Small Talk

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