Since her diagnosis with a rare seizure disorder at seven months old, Emma Greco, now five, has come a long way. There is still a lot to learn about infantile spasms (IS) though, and as long as there is, her family has work to do.

So on Nov. 29, her parents, Monica Diaz-Greco and Daniel Greco, will host the second annual Emma IS event to raise awareness about IS and fund research into treatments for the disorder.

Emma’s parents realized something was wrong when Emma was seven months old. At the time, Emma suffered from spasms every two weeks or so. The Grecos’ observations led to her diagnosis with IS at an early age, giving doctors an opportunity to treat Emma for the epileptic disorder before it could cause permanent developmental damage.

Not all families are so fortunate. The subtle signs of IS can go undetected long enough to lead to cognitive delay in children. IS can also progress into other forms of epilepsy as a child ages, so having an early diagnosis can prepare parents for addressing new challenges as they arise.

This is why the Weston couple is so passionate about raising awareness of IS, helping parents understand the disorder and funding research into treatments for it.

“We wanted to raise money for infantile spasm research,” said Diaz-Greco, “and coincidentally, Emma’s doctor is doing a study on first-line treatments in the defence against infantile spasms, so the money we raise goes directly to her research.”

Dr. Cristina Go, Emma’s neurology specialist at Toronto’s Sick Kids hospital, is studying ways to better triage patients from the time symptoms first appear so they can receive the most appropriate treatment in the shortest length of time.

“My goal is to try to get them diagnosed as soon as they present, and part of it is education of other physicians who refer these patients to us,” Go said. “Also, once they are in our program, it’s about looking at patients that might potentially benefit from epilepsy surgery.”

Epilepsy surgery, also known as vagus nerve stimulation (VNS) surgery, involves implanting a device similar to a pacemaker under a patient’s skin. The implant stimulates the vagus nerve, helping control seizure activity to make epilepsy more manageable.

Emma, whose infantile seizures have developed into epilepsy, became the first person in Canada to undergo the newest version of VNS therapy on Sept. 6.

Diaz-Greco said the family and Emma’s doctors are monitoring how her seizures respond to the device in order to fine-tune its settings to her disorder. Otherwise Emma, who is now in senior kindergarten, is doing well.

“It’s remarkable. We’ve been really lucky in that we’ve had really good professionals working with Emma,” Diaz-Greco said. She explained that Emma, who experiences delayed speech due to her condition, is enjoying progress with a speech pathologist.

“She’s doing a lot of things better than she could. Her progress is always going to be slower, and we accept that, but she’s making great strides.”

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To learn more about infantile spasms, and to purchase tickets to the Nov. 29 fundraising event, visit www.emmais.ca.

With files from Lisa Rainford