Danielle Williams shares her story

In the lead-up to #SYNGAP1 Awareness Day, Danielle shares her family's story. She is Mum to two beautiful girls, Jaeli and Dali. The sisters can have hundreds of uncontrolled seizures and are living with childhood insomnia, autistic features, and cognitive delays.

In the beginning, Danielle and her family were completely lost; they didn’t know what was causing the seizures. They tried over 17 antiepileptic drugs (AEDs), with no relief.

Finally, in 2016, after years of waiting, the girls were diagnosed with SYNGAP1, a rare genetic epilepsy. They were among the first in Australia to undergo whole genome sequencing - at the time, there were less than 100 diagnosed in the world, and now there are almost 600.

Danielle is a fierce advocate for her girls and has established Syngap Research Fund Australia, co-founded Genetic Epilepsy Team Australia and the Syngap Global Network. She has collated data and helped co-author the largest Syngap study, published in the neurology journal in 2019.

If you’d like to learn more about the current research into SYNGAP1, follow Syngap Research Australia on Facebook.