Seven-year-old Jaeli and five-year-old Dali were two of the first people in Australia to be diagnosed with a rare genetic condition called Syngap. (iStock)
Having one child with a serious form of epilepsy and autism would be difficult. Having two is almost unimaginable.
But that is reality for Melbourne couple Danielle and Danny Williams. Their daughters, seven-year-old Jaeli and five-year-old Dali were two of the first people in Australia to be diagnosed with a rare genetic condition called Syngap.
The sisters can have multiple seizures every hour (sometimes experiencing up to 50 seizures in an hour). They hardly sleep, are still in nappies, have impaired speech, autism, motor difficulties and behavioural issues.
When they are outside they have to be monitored constantly, as one of their behavioural issues is pica — which means they will pick anything up off the ground and try and eat it. If they are experiencing extreme seizures they have to wear helmets for their own safety.
Jaeli has seizures throughout the evening and as such suffers from insomnia. The longest stretch she can sleep is four hours. She wakes her mother up each time she has a seizure, which means Danielle is often working four days a week on four hours sleep. And this has been going on for six years.
For the first year of Jaeli’s life there didn’t seem to be anything wrong.
“She missed a few developmental milestones, but nothing alarming,” recalls Danielle.
“She was sitting up eating and babbling — she wasn’t that far behind other kids.
“The first time we realised something was wrong with her was when we were already pregnant with our second child. When Jaeli was about 18-months old Danny (who is an osteopath) noticed these little eyelid flutters. The pediatrician made us feel a bit like paranoid parents but we took her to the hospital for tests and that’s when my husband’s suspicions were confirmed ... that they were little seizures”.