Dravet syndrome
November 19, 2006
Connecticut Post (Bridgeport) (KRT) via NewsEdge Corporation :
Nov. 19--Ciara O'Driscoll is, in many ways, like any other 22-month-old girl. She loves music. She likes to play. She's affectionate, giving hugs and kisses to her mom, her dad -- even to her toys. But often, while running, playing, or doing other regular things, a change comes over the cherubic blonde girl. Her head will dip suddenly. She'll lose control of her muscles. If she's standing or moving, she'll fall abruptly.
Though her parents, Lori and Liam O'Driscoll of Monroe, tense up every time these incidents occur, they've become part of life for the family. Ciara has Dravet syndrome, a rare neurodevelopmental disorder, characterized by severe epilepsy that doesn't respond well to treatment. She was diagnosed a little less than a year ago, and is one of a few children in the state with the syndrome.
Children with Dravet can have hundreds of seizures a day. Most of Ciara's seizures are classified myoclonic seizures, brief full-body jerks that resemble a startle reflex. Lasting only a second, they can still cause her to fall and hurt herself. That's why the O'Driscoll's are always alert when their daughter is moving, ready to catch her if she falls.
"You can't leave her side," said Lori O'Driscoll, 35.
The O'Driscolls first knew something was wrong when Ciara was 5-and-a-half-months old. Up until then, Lori said, Ciara had been a model baby, health-wise.
"It was a normal pregnancy, a normal birth," she said. "There were no problems, not even a cold."
Then, one day, the family was grocery shopping and Ciara suddenly slid to the side of the grocery cart. She started shivering and Lori, thinking her daughter was cold, picked her up. "When I looked in her eyes, I could see that something was wrong," she said.
The seizure lasted 25 minutes. The O'Driscolls took Ciara to Yale-New Haven Hospital, where doctors ran tests, but couldn't pinpoint the exact cause of the seizure. Because Ciara was running a slight temperature, her seizure was temporarily dubbed a febrile seizure, or seizure caused by fever. However, the O'Driscolls were told that fever was probably not the real cause. Ciara continued to have periodic seizures over the next few months and was diagnosed with Dravet last December.
The diagnosis for Joan Skluzacek's son, Nick, took much longer, said Skluzacek, the founder and director of the IDEA League -- International Dravet syndrome Epilepsy Action -- in Afton, Minn. After being misdiagnosed three times, her son was 6 before he was diagnosed with Dravet, she said. As his seizures became more frequent and severe, Nick began to regress cognitively, socially and physically, a result of the disease. Now 13, he hasn't spoken in six years, said Skluzacek.
One of the goals of IDEA, which Skluzacek started about a year ago, is not only to create public awareness of the disorder, but awareness in the medical community as well. The earlier that children are diagnosed and treated, the better the possible outcomes, she said.
"The ultimate goal is certainly a cure," said Skluzacek in a phone interview. "It is a challenging disease to understand, to research and to treat. It's considered a catastrophic, life-threatening epilepsy."
In August, a medical and family conference supported by Gillette Children's Hospital in St. Paul, Minn., brought together 47 families from all over the world, representing 49 children with Dravet, said Skluzacek. One of the participants was French Dr. Charlotte Dravet, the epileptologist who first described the syndrome bearing her name in 1978. Initially, Dravet syndrome was known as severe myoclonic epilepsy of infancy. It generally presents in the first year of life, and occurs in anywhere from 1 in 20,000 to 1 in 40,000. Though Dravet is associated with a gene mutation, generally, neither of the O'Driscolls carry the gene.
When Lori O'Driscoll came home from the doctor after receiving the diagnosis, she did some research online, which terrified her. "What's online is not good," she said. "It's scary."
The O'Driscolls learned all the worst-case scenarios of Dravet, such as the fact that children with the disorder can actually lose skills as they get older.
Fortunately, Ciara is at the low end of the spectrum, which means her Dravet isn't as severe as that experienced by some children. Also, the fact that it was caught early, and that her parents took action almost immediately helps.
After the diagnosis, the O'Driscolls took Ciara to Dr. Shlomo Shinnar, a neurologist and director of the Comprehensive Epilepsy Management Center at the Montefiore Medical Center at the Albert Einstein College of Medicine, Bronx, N.Y. Ciara sees Shinnar about once a month, and he's one of a number of physicians she sees regularly. Others include a pediatrician and geneticist. Shinnar said although he's seen a few cases of Dravet, and knows of at least one other case in Connecticut, it is rare. So far, he said, Ciara seems to be doing well with few delays and no regression.
Developmentally, Ciara is at the place a typical 18-month-old would be. She can walk a little, and is working on walking up stairs.
Shinnar said he's unsure what the future holds for Ciara but said, "the longer she goes without regressing, the better her odds are."
The O'Driscolls also are constantly on notice for any changes in their daughter. "The really horrible thing is thinking what tomorrow could bring," said Liam O'Driscoll, 32.
Meanwhile, the O'Driscolls are doing everything they can for Ciara. They just moved to Monroe from Stamford last week because they heard Monroe's school district might be better suited to Ciara's needs.
In addition to her doctors, Ciara sees multiple specialists, including a speech therapist, a physical therapist, a special education teacher and an occupational therapist. When the family lived in Stamford, those professionals were provided through ARC, the Greenwich-based birth to 3 program. Now that the O'Driscolls have moved, they'll be using professionals from the Shelton-based Birth to 3 program Child and Family Network.
Physical therapist Isabel Katz was at the O'Driscoll's home in Stamford last week, while the family was still in the process of moving. Despite the boxes piled on the floor, Katz worked with Ciara, helping her balance as she walked and sat.
Katz said working with a child like Ciara presents a particular challenge. "You have to be next to her all the time, yet still allow her to develop," she said.
Ciara is also on a number of medications, but they haven't brought the seizures under control. The myoclonic seizures are interspersed with longer, more intense episodes, such as the one that initially alerted Ciara's parents to her condition.
Lori said she and Liam are continuing to search for possible solutions, such a ketogenic diet, high in fats and low in carbohydrates, that is supposed to help control seizures in some patients. Shinnar is supposed to start Ciara on the diet next month.
Dravet has affected every aspect of the O'Driscoll's lives, mainly because someone always has to be with Ciara in case she has a seizure. Lori hasn't been able to work, and, though pursuing a graduate degree in elementary education from Fairfield University, it's been tough to balance that with being there for Ciara.
Still, Ciara remains in good spirits, which her mother marvels at. "[When she has a seizure] she doesn't even cry," Lori O'Driscoll said. "She just whines a little. This is all she's ever known."
For more information on the Idea League, visit www.idealeague.org.