Navigating a Complex Diagnosis: Sadie's Story of GNB1 Syndrome, Autism ASD3, Epilepsy, and More with Jessica Sculley

In this episode of the podcast, we interview Jessica Sculley, a mother who shares her family's journey with her daughter Sadie's diagnosis. Jessica talks about the first signs of an issue when Sadie was just 3 months old, as she was an extremely colicky and unsettled baby, which led them to visit their GP. The pediatrician suggested that it could be colic, but he had concerns about Sadie's head control, tone, and eye movements.

The situation escalated when Sadie was 5 months old, and an MRI revealed bleeding on her brain, which opened up a child services case. The child services case was ultimately closed because the MRI results were misread, and it turned out that there was no bleeding on Sadie's brain. 

The family was left with a lot to deal with, but as time passed, Sadie was diagnosed with several conditions, including nystagmus, affected eyesight, low muscle tone (hypotonia), global developmental delay, epilepsy, and a genetic condition called GNB1 syndrome.

At 2.5 years old, Sadie received a formal autism diagnosis, which added another layer to her complex medical needs. Through it all, Jessica has been a strong advocate for her daughter, navigating the healthcare system, and supporting her family's needs. 

Listen to this episode to hear Jessica's perspective on being a parent of a child with complex medical needs, the challenges she faced, and how she's learned to advocate for her daughter.

FOLLOW JESSICA:
INSTAGRAM:
https://www.instagram.com/atsadiespace/
https://www.instagram.com/_jessica.sculley/
WEBSITE:
https://atsadiespace.com.au/