When Ciara O’Driscoll was born, first time parents Lori and Liam were overjoyed with their beautiful and healthy little girl. Five months later, their world was turned upside down when Ciara suffered a 25-minute grand mal seizure and was rushed to a local hospital. Within weeks she began experiencing regular seizures, ranging from brief muscle twitches or “myoclonic jerks” to an episode that lasted more than an hour. Searching for answers, the Connecticut family eventually turned to Children’s, renowned for treating Ciara’s rare form of epilepsy: Dravet syndrome.
Dravet syndrome is a difficult disorder to treat, and has no known cure. Typically it begins in infancy, with the frequency and severity of seizures rapidly increasing over time. It affects virtually all aspects of a child’s life, and often causes behavioral and developmental delays and regression of already acquired skills.
Ciara was diagnosed with Dravet syndrome through genetic testing when she was 11 months old. It was a disorder Lori and Liam had never heard of. By that point she was suffering up to 50 small seizures a day, and had been rushed to local hospital emergency rooms on a number of occasions.
“After the doctor gave me the results, I remember him saying, ‘I wouldn’t be too worried about it,’” says Lori. “But when I got home and started to do research online, I was devastated by what I found out.”
Eventually Ciara was experiencing as many as 150 seizures a day, and needed to wear a helmet to prevent head injuries. Doctors prescribed a number of anti-seizure medications, though none of them provided relief.
Searching for answers, Lori spoke with the mother of another child with Dravet syndrome, who recommended she seek care for Ciara at the Children’s Epilepsy Center, which treats more children with the disorder than any other epilepsy center in the U.S. The center specializes in caring for children with the most difficult to treat forms of epilepsy. Each year the multidisciplinary staff evaluates nearly 1,000 children in the hospital’s epilepsy observation unit, and conducts more than 1,700 outpatient visits.
Lori contacted Linda C. Laux, MD, who is one of the world’s top experts on Dravet syndrome. Dr. Laux says nearly 100 children with the devastating disorder have been evaluated at Children’s — more than half of them from outside the Chicago area. After a two-hour phone consultation, Lori and Ciara flew to Chicago for an evaluation by Dr. Laux. Ciara was nearly 2 years old.
“Dr. Laux didn’t make any false promises, but I could tell she was really listening to me,” says Lori. “She was very reassuring, and I felt that Ciara would be in good hands.”
Several months later, they returned to Children’s, where epilepsy center registered dietician, Robyn Blackford, started Ciara on the ketogenic diet. This carefully monitored high-fat, low-sugar and low-carbohydrate diet is very effective in treating children with difficult to treat forms of epilepsy. Children’s is one of only a few children’s hospitals in the U.S. to have a dedicated ketogenic dietitian.
Lori says she saw a dramatic decrease in the number of seizures Ciara suffered within two weeks. Amazingly, at one point she went three months without a single seizure. Her developmental progress increased, as she responded better to speech and physical therapy.
“We take a holistic approach to medicine at the epilepsy center,” says Dr. Laux. “Our focus is to treat the seizures with as few side effects as possible from medications. This helps to maximize a child’s developmental potential and quality of life. Parents know their children better than any medical professional. That’s why a ’team approach’ to care is required, one that includes the parents, physicians, nurses and other team members as needed, including a social worker, educational coordinator, neuropsychologist, child psychiatrist and dietician.”
Ciara, now a spirited 5-year-old kindergartener, is developmentally on target. She takes swim lessons and likes to dance, do art projects and play with her little brother, Aidan. Ciara calls her dietary regimen her “magic diet” though it’s one that presents significant challenges for the entire O’Driscoll family. Her food has to be prepared at home and portions must be carefully weighed, because the diet involves a specific fat-to-carbohydrate ratio.
While the diet has made a huge difference, Ciara is once again experiencing seizures on a weekly basis, and is starting on a new anti-seizure medication to augment the ketogenic diet. Despite the setbacks, Lori says she continues to feel encouraged by Ciara’s team of caregivers.
“Children’s has given us hope,” she says. “Everyone at the hospital has so much compassion for both the child and the family. We’ve been to many hospitals, and our experience at Children’s underscores just how superior the quality of care is.”
Inspired by Ciara’s brave battle, Lori has become an advocate for other Dravet syndrome families, and is a dedicated fundraiser for research into finding cures and better treatments. She co-founded the Dravet Syndrome Foundation in 2009, and serves as the organization’s president.
The Foundation recently awarded a $100,000 grant to Children’s physician-scientist Sookyong Koh, MD, PhD, for her research on Dravet syndrome.
“Epilepsy research in general is underfunded, and funding for a specific syndrome as rare as Dravet syndrome is almost non-existent,” says Lori. “I need to know at the end of the day that I’m doing everything I can to help Ciara. Even if we can’t find a cure for her, maybe we can find a cure for the next generation affected by it.”
Story originally appeared in the August 2010 issue of Heroes Update.