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Ania - A rare diagnosis during COVID, how one family navigated SCN2A and TRAPS
Manage episode 370669630 series 3481290
PAEDS Education Grace & Sarah and PAEDS Education Grace에서 제공하는 콘텐츠입니다. 에피소드, 그래픽, 팟캐스트 설명을 포함한 모든 팟캐스트 콘텐츠는 PAEDS Education Grace & Sarah and PAEDS Education Grace 또는 해당 팟캐스트 플랫폼 파트너가 직접 업로드하고 제공합니다. 누군가가 귀하의 허락 없이 귀하의 저작물을 사용하고 있다고 생각되는 경우 여기에 설명된 절차를 따르실 수 있습니다 https://ko.player.fm/legal.
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
25 에피소드
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