“I thought, ‘Oh, more bloodwork; we’re going to rule out another diagnosis,’ ” Cossolotto recalled.
At last, an answer
(Laura Cossolotto,/LAURA COSSOLOTTO,) - Much improved, Michaela Cossolotto is now in high school.
Three weeks later, Wirrell called Cossolotto with the definitive answer that had eluded her for so long. The blood test for the SCN1A gene revealed that Michaela had Dravet syndrome, also known as severe myoclonic epilepsy of infancy, a rare and serious form of the seizure disorder named after the French doctor who described it in 1978.
Dravet is usually caused by a spontaneous — not inherited — genetic mutation present at birth that affects the functioning of brain cells, according to the National Institute of Neurological Disorders and Stroke. Its hallmark is severe seizures during the first year of life that are difficult to control. Many children with Dravet, which occurs in one in every 20,000 to 40,000 births, also exhibit poor language skills, behavioral problems and cognitive deficits. There is no cure for Dravet, but some medications are effective in controlling seizures. Among them are clobazam combined with stiripentol, a French drug that has not been approved by the Food and Drug Administration but can be legally imported because it treats a rare illness.
In many cases Dravet emerges when a baby runs a fever, which can occur after receiving an immunization. But, notes Wirrell, chief of pediatric epilepsy at Mayo, “it’s absolutely not the immunization causing Dravet” but rather the fever that causes the existing disorder to surface. Wirrell, who has seen 20 children with Dravet, said that those who have never been immunized show symptoms after spiking a fever.
Several recent studies have explored the relationship between the DPT vaccine and Dravet, which was first suggested as a cause of neurological problems in a 2006 study by a team of Australian epilepsy specialists. A 2010 study in Lancet Neurology found that the vaccine did not affect the outcome of Dravet: Babies whose seizures began after the shot fared no worse than those whose illness surfaced at another time. A 2011 report in the journal Pediatrics found that five children presumed to have neurological damage caused by the DPT shot were later discovered to have Dravet.
In Michaela’s case, the combination of seizures that began at six months, soon after the DPT shot, and the lack of any other cause made Wirrell suspect Dravet; the gene test confirmed it, although about 30 percent of children with Dravet do not test positive.
For Cossolotto, the diagnosis meant coming to terms with the reality of her daughter’s serious, incurable illness. “I always thought that if I knew what it was, we could fix it,” she said. “But it was Dravet, and there was no fixing it. I had to keep telling myself, ‘You have an answer.’ ”
What took so long?
“Five or 10 years ago, many people were not thinking that this is a seizure syndrome,” Wirrell said. She credits parents, especially Cossolotto, who since 2008 has been president of the support and advocacy group called Dravet.org, with raising awareness of the disorder and promoting effective treatment.
Epileptologists, she added, are attuned to Dravet, while general neurologists may be unfamiliar with it. “Recurrent prolonged seizures fairly early in life should trigger a referral to a pediatric epileptic specialist,” she advised.
As a result of the diagnosis and proper medication, Michaela’s life has dramatically improved. Although she still grapples with cognitive and behavioral problems, her seizures have dwindled to only a handful annually. Now 15, she is a freshman in high school with friends, a Facebook page and other trappings of adolescence.
Without a diagnosis, Cossolotto said, she would probably still believe — erroneously — that the DPT shot caused Michaela’s illness. “I understand this is a genetic condition,” she said. “Having an answer does make a difference.”
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