Toddler's life with seizures

For Anna Conte, the terrifying seizures began at 2 months.

Without warning, the baby girl would turn blue, the oxygen to her brain cut off by uncontrollable convulsions.

The seizures often continue for more than an hour and can be stopped only with a special drug injected at the hospital.

Wendy Conte has counted 51 emergency hospital visits — including one Friday night — for her feisty little daughter, who is now 22 months old.

Anna is believed to be the youngest child ever diagnosed with Dravet’s syndrome, an extremely rare epileptic condition.

“They’re not typical seizures,” Wendy Conte of Orchard Park said. “Immediately, she stops breathing. She turns blue and arrests within seconds. There’s no indication of when she’s going to have one, either.”

The condition led doctors to cut a permanent hole in Anna’s trachea, so air can be delivered to her lungs as quickly as possible during an attack. She also had a feeding tube installed in her stomach to help her gain weight and more easily take medicines.

And her care has become a community concern in Orchard Park, where many of the volunteer firefighters have come to know Anna and her family by responding to frequent emergency calls at their home.

“She’s like part of the family to every one of us,” said Anthony Balaster, a firefighter and assistant emergency medical services coordinator for the Orchard Park Fire District.

Balaster, who estimates he has responded to nine emergency calls for Anna, says witnessing her gasping for breath hasn’t become any easier.

“No matter how many times you go there, it’s enough to scare you,” he said. “It hits you at home.”
This weekend, more than a dozen Orchard Park emergency responders participated in a training course conducted by Rural/Metro Medical Services to learn more about Dravet’s syndrome and other pediatric conditions they may encounter on emergency calls.

Wendy Conte was scheduled to address the medical technicians Saturday, with Anna in tow, but the little girl’s most recent hospital stay made that impossible.

Instead, the Contes showed up Sunday, mostly so parents Wendy and John could thank the emergency responders better explain Anna’s condition and introduce their playful, blond daughter under normal, non-emergency circumstances.

Anna was diagnosed with Dravet’s syndrome — named after Dr. Charlotte Dravet, a French neurologist — as a 10- month-old.

At one point, the seizures occurred at a clip of three to five times a week, but they have subsided considerably since the tracheotomy in October and the use of a new medicine, stiripentol.

Aside from her frightening seizures, Anna is a normal, nearly 2-year-old, said Wendy Conte.

She taunts the family golden retriever, teases her older brother, Johnny, 8, and sister, Gina, 5, and appears to be just a few weeks away from walking, Conte said.

Still, Anna requires aroundthe- clock supervision and may face a lifetime of health problems.
“You literally cannot take your eyes off of her,” said Wendy Conte, who receives overnight assistance from home health aides four times a week and stays awake the other three nights to watch over Anna.

Fewer than 500 cases of Dravet’s syndrome have been diagnosed worldwide, with fewer than 50 in the United States, she said.

Because of frequent instances of oxygen deprivation, many Dravet’s sufferers have developmental problems, especially with their speech.

The Contes have learned how to use a ventilating bag to deliver as much air as possible while Anna is rushed to Women and Children’s Hospital for a shot of propofol, an anesthetic that breaks the seizure.

Anna’s siblings look out for her, too.

Johnny has learned to grab the phone and dial 911 for his mother during an emergency.

“We have such a system now,” Wendy Conte said. “In the first year, we didn’t know what we were doing. It changes your family, your life, forever.”