Batten disease robs meaning from young twins' lives

January 10, 1993|By Jackie Powder | Jackie Powder,Staff Writer

Two wheelchairs sit in the kitchen corner. An entire cabinet is stocked with medication -- $12,000 worth -- for one year.

Nearby, Michael and Rosemarie Joyce sit at a table in their Ellicott City home and talk about their four-year effort to give meaning to their sons' lives.

Their eight-year-old twins, Ian and Joe, are asleep in the living room, their brains destroyed by a degenerative neurological disease. They function at the level of a three-month-old infant.

Ian and Joe were normal little boys when they were diagnosed with Batten disease in 1989. Since then, they've steadily deteriorated, losing nearly all of their sensory and motor skills.

"They can't eat, can't roll over, there's no recognition, no smile, no crying," Mr. Joyce said. "I'd give anything to hear Joe's laugh again."

The boys require 24-hour care, but the Joyces have found the time to put pressure on the federal government to allocate research money for Batten disease.

They've testified before Congress four times, each time taking Ian and Joe with them, as well as their two other sons Conor, 10, and Andy, 5. They've become angry and frustrated with the politics and the bureaucracy involved in funding medical research. But they've gotten results.

Over the past 18 months, The National Institutes of Health have awarded $2.6 million in grants to 14 researchers to study Batten disease.

On Friday night in Baltimore, about $6,000 in private money was raised for Batten disease research at the fourth annual Batten disease benefit dance, attended by about 350 people at the Johns Hopkins Glass Pavilion.

The event was organized by the nurses in the labor and delivery department at St. Agnes Hospital, where Mrs. Joyce works on weekends.

"We feel this is the only thing we can do to help them [the Joyces]," said Barbara Daniels, who coordinated the dance.

"Even though they know there probably won't be a cure found for their sons, they're trying to help other kids."

The federal funding is a major victory for the Joyces and the Children's Brain Diseases Foundation, a nonprofit agency dedicated to raising money for Batten disease research. But it couldn't have happened without the effective campaign of persuasion and persistence, waged by the Joyces and Dr. J. Alfred Rider, a San Francisco doctor who established the foundation.

Initially, NIH awarded only $900,000 of the $2 million that Congress allocated in 1992 for Batten disease research.

"We were absolutely livid," Mr. Joyce said.

After many phone calls, the Joyces managed to get a meeting with Dr. Bernadine Healy, the director of NIH. The Joyces refused to give up even after being told that Dr. Healy didn't meet with lay people.

In May Dr. Healy met with the Joyces, their sons and Dr. Rider.

"When she looked at them she said, 'This is a preventable disease. They were born normal and they were normal until they were three,' " Mr. Joyce said.

As a result of the meeting, NIH took a second look at proposals for Batten disease research and awarded eight more grants. The additional grants brought the amount of federal money committed to Batten disease research to $2.6 million, Mr. Joyce said.

Most of the research into the disease has been made possible by the 15-year-old Children's Brain Diseases Foundation, which has given small amounts of seed money to re

searchers. Now, with the infusion of federal money, the Joyces believe that researchers will be able to answer some critical questions about the disease.

"I predict that by the end of this century we will know the gene defect and what to do about it for the juvenile form," said Mr. Joyce, referring to one type of Batten disease.

About 400 known children are known to have the disease, though there probably are many more cases because misdiagnosis is common, Mr. Joyce said.

Batten disease usually strikes between the ages of 2 and 7, causing progressive blindness, seizures and mental retardation. Four types of the disease have been identified, based on age of onset and severity of symptoms.

Ian and Joe have the late infantile form, which has an average life expectancy of about 12 years.

The boys are given formula three times a day through tubes in their stomachs. They attend the county's Cedar Lane school in Columbia every day where they're exposed to sensory stimuli, and they go swimming every week.

"They recognize voices sometimes and they're fairly responsive to touch," Mrs. Joyce said. "If you cuddle them, they'll calm down."

The Joyces hope that researchers soon will be able to develop a blood test to identify carriers of the disease. To that end, the Joyces and the Children's Brain Diseases Foundation will continue their fund-raising work.

The foundation has committed $10,000 to Dr. Mark Gardiner of London, a leading geneticist doing work on Batten disease. The money will go toward the purchase of a $120,000 piece of equipment for gene mapping.

Locally, the foundation participates in an annual Bike and Walking Tour for Batten disease, which has raised nearly $40,000 in the past four years. Centennial High School sponsored the last tour and plans to do it again next year.

"A lot of people look at Ian and Joe and think they're a burden, but they're not, because we love them," Mr. Joyce said.

"We know we're going to lose Ian and Joe, but I think they're angels from God. They've brought out so much good in so many people."

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