Sunday, November 29, 1998

Kathy and Gary Schilmoeller, shown with their son Matthew in their office at the University of Maine in Orono, have set up a worldwide information network on agenesis of the corpus callosum or ACC, a little-known brain condition that has puzzled neuropsychologists for years. Even by the time he reached first and second grade, Matthew Schilmoeller couldn't write down a single letter. Though his teachers tried their best, he just didn't seem to have an inkling about what the alphabet was or how to use it. Then one day his parents walked into his room and there on the floor was a set of animal dominos, carefully arranged to spell out his little brother's name: Brian.

For a little boy who was missing part of his brain, it was a major triumph that seemed to come from nowhere. For his parents, it was a remarkable clue to the way his disconnected mind works.

"This is one of the keys to Matthew," says his mother, Kathy Schilmoeller. "He can't produce information the way you would ordinarily expect a person to. But if you give him other materials, he can actually show you that he understands."

Now Matthew's struggle to communicate has led to a worldwide information network and new research on a little-known condition that has puzzled neuropsychologists for years.

Matthew, now 22, was born with a rare disorder in which the thick band of nerves that joins the two hemispheres of the brain did not develop in the womb. This bundle of 200 million to 800 million nerve fibers is called the corpus callosum, and it is a major communication pathway that allows information to pass back and forth between the two sides of the brain.

When this pathway is either partially missing or gone completely, the brain is short-circuited like a faulty telephone line. Some people who have this condition, called agenesis of the corpus callosum or ACC, are severely mentally retarded, suffer from seizures or are unable to walk or talk.

Others, like Matthew, may be of average intelligence but are learning disabled; their brains absorb information like a computer, but they can't process it correctly. People lacking this part of their brain have a high tolerance for pain. They have great difficulty doing math. They may be good spellers, but they are unable to read well. And they have subtle but complex problems interpreting social nuances that the rest of us pick up easily - a raised eyebrow, a bit of sarcasm. They often take things so literally, in fact, that they can't comprehend jokes, irony or the meaning of parables or metaphors. Literal interpretation

Say "Wake up and smell the coffee" in front of Matthew, for example, and he'll "start looking for the coffee and saying things like, 'He's awake already," his mother said.

Kathy Schilmoeller and her husband, Gary, have spent years trying to understand the enigma that is ACC and its effect on their son. In their search for answers, they started a first-of-its-kind directory of ACC families from around the world, which they update regularly.

They tell their son's story to stunned parents whose worlds have suddenly been turned upside down by brain scans that show with brutal clarity why their toddlers are still not walking or talking. They take calls from South Africa at 4 a.m. and spend hours answering e-mail from places like Spain, Germany and Brazil, answering questions for people whose doctors have told them with wild understatement that yes, this a major problem, but sorry, we can't help you.

During the past year, they've met with a team of neuropsychologists from the United States and Scotland who are studying ACC and who have been astounded by the amount of information the Schilmoellers have been able to gather through their network.

Over the next two years, the Schilmoellers will be collaborating with these researchers on some of the first systematic studies of the social development of persons with ACC.

"What we've found in working with parents is it really helps them to sort of know ACC is the issue and have some idea of what that means," said Warren Brown, director of The Lee Travis Institute for Biopsychosocial Research in Pasadena, Calif. "But there's still a lot to be understood about what, then, do you do? You can't cure ACC, so how do you help these people have a successful life? I think Matthew and some of the other kids we're working with are going to have successful lives. But what that means and what it's going to take is something yet to be figured out." Slow development .

Kathy Schilmoeller first suspected that something might be amiss with her son's development when he still wasn't sitting up at 9 months old. He didn't talk until he was 3. It took him four years to learn how to ride a bike. Initially, doctors told them not to worry. Because both the Schilmoellers are child development experts themselves and teach at the University of Maine, there were suspicions that they were exaggerating Matthew's problems.

"At one point one person said that we were in fact the problem, that because we were in child development we were creating the problem because a normal child would not be interesting enough," Kathy Schilmoeller said. But clearly something was wrong.

When he was about 3 years old, Matthew put his hand on a burner on the stove and left it there, oblivious to the pain. Gary realized what was happening when he smelled his son's skin burning and grabbed his hand. Other ACC kids have been known to walk around with broken collarbones or crush their fingers in car doors without complaining. As Matthew grew older, language problems replaced motor delays as the primary concern.

"When Matt was little, you could tell he had something to say and he just couldn't get it out," Kathy Schilmoeller said. "And now that he's older and he's much more fluent in his language, you see it in the delays between words, or sometimes he'll repeat phrases over several times, just trying to get it right."

Even people who have had half their brain surgically removed still have some ability to communicate because the part of the brain that's left takes over some of the functioning, Brown says. That also happens in people with ACC, even when the corpus callosum is completely missing. In addition, the brain scans that Brown and his colleagues have reviewed show that there is still an anatomical connection left, a structure called the anterior commissure, that can carry information from one hemisphere to the other.

But it's extremely small. If the corpus callosum is as big as all five fingers put together, the anterior commissure is much smaller around than the little finger. Speech in fits, starts

The result is that people with ACC may have rich ideas bubble up in the right hemisphere of their brain, Brown says, but are unable to express them adequately. Speech comes in fits and starts as the person tries unsuccessfully to organize his thoughts.

Matthew's teachers were convinced that most of the time he had no real language skills at all. At other times, he didn't perform as a "normal" kid would on tests. During one battery of hearing and language tests, for example, he was told to stand on one foot. The "right" way to do it was to lift one foot in the air; Matthew literally put one foot on top of the other.

Then came the time when he spelled his brother's name. During that same period, his father came into his room one day and found Matthew jumping on his bed saying, "Look what I did!" On the floor he had spelled out "I love you" in blocks, using the unique shapes of some blocks to help form the letters. He used a block shaped like an arch, for example, for the "u."

"Again, nobody had a clue at that point that he knew his alphabet or that he could write," Gary Schilmoeller said. "And yet that information was there."

Matthew Schilmoeller chats with Kelli Locke at the Student Union at the University of Maine's Orono campus. After Matthew graduated from high school, he went through a two-year program for people with learning disabilities at Lesley College in Boston. Once, when Matthew wasn't even 3 years old yet, he went with his mother and his aunt to a cemetery in Kansas, where they were doing genealogical research. It was a quick trip, nothing especially memorable.

But 3-1/2 years later, when Kathy and Matthew were driving past a cemetery in Bangor, Matthew suddenly pointed to the graveyard and blurted out that it looked like the place were his mom and aunt "were looking at the numbers and the letters."

"I practically drove off the road," Kathy Schilmoeller said. "It was startling."

Though the Schilmoellers reported these and other unusual incidents to neurologists they visited, no one knew what was wrong. Definitive diagnoses

ACC was first described in 1812 through an autopsy, but it is only in recent years that doctors have been able to diagnose it definitively with magnetic resonance imaging and CT scans. When Matthew was born, CT scans were just in their infancy and MRIs were not yet commercially available. Today kids are more likely to be diagnosed with ACC much earlier, sometimes even within their first couple of months of life.

Matthew finally got his diagnosis when he was 9 years old. The Schilmoellers breathed a sigh of relief, thinking that now that the problem had a name, surely there would be information available and people who could answer their questions.

"I thought this will be the answer to all our prayers," Kathy Schilmoeller said. "And then the neurologist we met with said, 'I can't tell you anything. There isn't any information. Just keep doing what you're doing.' He also said that if he had seen a picture of Matt's brain (before examining him), he would have said that this child would not be speaking."

The Schilmoellers started trying to find other people with ACC, thinking that if they could get in touch with adults who have the condition they could get an idea of what lay ahead for Matthew. Instead, parents with small children began contacting them, and Matthew became their role model.

They published the first edition of their ACC directory in 1990. Since then, it has grown to 465 entries, and they have made contact with more than 1,400 families worldwide.

Some of the directory's entries are hopeful. There's a nurse from Maine, for example, who has ACC and grew up with some developmental delays and learning problems, but eventually graduated at the top of her class. Oddly, she prefers writing backward.

Other entries, like this one from Puerto Rico, are heartbreaking: "At 15 years, 1 month, able to chew food. If lying in bed, able to change her position. Eats regular bland foods well. Does not walk. Legally blind. No language. Unable to grasp - needs to be fed. Not toilet-trained."

A study of prenatal sonograms estimated that the incidence of ACC may be 3 in 10,000 in the general population. It may be more common among the learning-disabled, Brown says. Exact cause uncertain.

Scientists aren't sure of the exact causes of ACC. It's associated with fetal alcohol syndrome and several genetic abnormalities, but it can also just appear for no apparent reason. The damage occurs during the first trimester of pregnancy, when the corpus callosum normally starts developing. Other things can go wrong during this time, too, which may account for the retardation that sometimes occurs with ACC.

"I think even in the most competent and most intelligent individuals, if you know what you're looking for, you can see that there is a fairly dramatic impact of the absence of the corpus callosum," Brown said.

Still, in more intelligent individuals who have ACC, it can be hard for the casual observer to pin down exactly what's wrong.

Listen to Matthew Schilmoeller, and on the surface he seems like any other 22-year-old, except his words come out just a few at a time. He likes rap music. He knows all kinds of details about sports, but can't do math. He doesn't read regularly, but he'll pore over the newspaper for information about sports, and he surfs the Internet. He loves football and wrestling, and works as a volunteer coach for local sports teams.

"I also play a lot of pickup games of basketball and things like that," he said.

He does not understand abstract concepts such as making a budget, and all kinds of humor are lost on him.

"Our younger son can be very witty and cerebral," Kathy Schilmoeller said, "and Matt is forever thinking that Brian means it literally and takes offense. And we have to say, 'Matt, it was a joke. You're supposed to laugh.' But he doesn't understand it."

The Schilmoellers and other families are concerned that such a tendency to take things literally, combined with the inability to read social cues, may get some young adults with ACC in trouble with the law. They could be taken advantage of and put in dangerous situations, or they may not realize that their behavior, even if it is extremely friendly, is socially unacceptable. For instance, there are currently two cases in the United States of people with ACC who have been arrested for stalking, even though they can't understand the concept. Lesley College program .

After Matthew graduated from high school, he went through a two-year program for people with learning disabilities at Lesley College in Boston. There he learned independent living skills and started working with preschool children.

"That's why I'm going for my associate degree in human services at University College in Bangor," he said. "I'd like to get a job as a preschool teacher."

Gary Schilmoeller said he thinks Matthew will be able to realize that dream, if he is in a situation with some supervision. And he can envision a life in which his son will be able to live independently, with a little support.

During the time he lived in Boston, Matthew traveled back and forth on the bus by himself, and rode on the subway to concerts, dance clubs and lots of Red Sox games - all things his parents never thought he'd be able to do.

"He has learned a lot more than a lot of people, myself included, ever appreciated that he would ever be able to accomplish," Schilmoeller said. "Can he organize it? No, he struggles with organizing it. Will he be able to get this college degree that he wants? I don't know the answer to that.

"But he wants to try, and he's learning." To learn more For more information about agenesis of the corpus callosum, contact: The ACC Network
5749 Merrill Hall, Room 18
University of Maine
Orono, ME 04469-5749
(207) 581-3119