Sacramento Bee/Lezlie Sterling
Facing the pain

Rare disease is ordeal for teen and his family

By Erika Chavez -- Bee Staff Writer
Published 2:15 a.m. PDT Sunday, August 18, 2002

BETHESDA, Md. - Brian Chadaris is tired.

Tired of being hospitalized. Tired of repeated surgeries. Tired of being stared at by strangers. And most of all, tired of being in pain.

The pain has been a constant since Brian was 5 years old, part of him for so long that he cannot remember life without it.

"I can't describe it," said Brian, a Rio Linda 16-year-old who is also mostly deaf. He is an accomplished lip reader and speaks with a slight slur. "I just know that it hurts, and I have to deal with it."

Brian has grappled with an undiagnosed skin disease for more than a decade.

What started as seemingly harmless rashes on his bottom developed into aching, cyst-like growths that have spread across his face, neck, back and groin. The large bumps, which cause pain and pressure as they grow, unfailingly become infected, making surgical removal necessary.

The disease has confounded doctors, and treatment has been limited to unsuccessful drug regimens, experimental skin grafts and surgical tissue removal called debridement.

More than 30 surgeries have left Brian scarred and disfigured, and the end is nowhere in sight.

The disease has become the focal point of his family's life; days are structured around medications and appointments. Money is scarce as the drugs Brian takes are not covered by Medi-Cal, and his mother loses job after job when his hospitalizations require her absence. His parents fret about his younger sister, Christina, a 14-year-old who has had to do without a lot of attention. Outside relationships have frayed, but the family remains united and determined to find answers to Brian's dilemma.

In late July, Brian and his mother traveled 3,000 miles to the National Institutes of Health in Bethesda, Md., in search of a treatment or cure. For 10 days, Brian was examined, poked and prodded by doctor after doctor.

He didn't come home with all that he wished for. But he did return with a long-awaited answer - and a renewed sense of hope.

Enduring the stares

The young man clambers aboard the airplane at Sacramento International Airport for a pre-dawn flight, his mother following close behind.

Dressed in his customary baggy jeans and dark T-shirt, his hair fashionably spiked and his ears pierced, he looks like countless other teenage boys.

Until you take a closer look.

His face, neck and head are etched with scars, both recent and aged, some red, others faded.

There are large, angry scabs interspersed with growing pustules on his neck and throat, some as small as a pimple, others the size and girth of a large man's fingertip. He looks wounded, raw. Most onlookers mistake him for a burn victim.

Brian Chadaris has become immune to the stares from strangers, their uncomfortable silence when he approaches. But his mother, Rebecca, still is painfully aware of how others react to, and sometimes recoil from, her beloved son.

The ticket agent was unable to seat them together on the plane, so they take seats across the aisle from one another. Rebecca watches as the older woman in the window seat next to Brian edges away from him, pushing her body into the wall of the plane.

Brian pays no attention, instead listening to his Walkman. The plane takes off, and Rebecca is watching as he pulls a picture out of a CD case. It's a snapshot of his girlfriend, Courtney, a petite and effervescent blonde with an ever-present smile.

The woman next to Brian glances at the picture then watches Brian looking at it, his face filled with tenderness.

Brian, a naturally gregarious type, notices her looking at the picture and strikes up a conversation.

"This is my girlfriend," he says proudly, and proceeds to pull more pictures out of his backpack to show the woman.

The woman's eyebrows arch skeptically.

"How'd you get such a pretty girlfriend?" she wonders aloud.

"I don't know, but I get a lot of them," he replies matter-of-factly.

Rebecca overhears the conversation and immediately asks the man next to her to switch seats with Brian so the mother and son can sit together.

When the plane lands, Rebecca approaches Brian's former seatmate.

"He got such a pretty girl because he's a beautiful guy," she says.

The woman stares back wordlessly, then quickly exits the plane.

'It's all I've ever known'

Rebecca and Matthew Chadaris met at a Rio Linda pizza parlor when she was just 17, and they married one year later. It was 1984. She was innocent and fun-loving with a tenacious edge. He was 22, a long-haired party boy with a checkered past who put his wild ways behind him when they married.

Rebecca, who had had an ovary removed due to recurrent cysts, thought she wouldn't be able to have children. But at 19, she got pregnant with Brian.

"I was ecstatic," she recalled.

The pregnancy was uneventful, and Brian was born on Dec. 20, 1985. His skin had a bluish tinge for the first two days, which alarmed Rebecca though the doctors assured her it was normal. In the pediatric wing, surrounded by wailing babies, he slept peacefully through the ruckus. The nurses marveled at what a good baby he was. It wasn't until two years later that tests revealed Brian had substantial hearing loss, especially at high frequencies.

He had skin problems right away, which doctors assured Rebecca were a routine part of infancy: cradle cap, baby acne and severe diaper rashes. He came down with pneumonia and had to be hospitalized several times because of recurrences. Much of Brian's early childhood was spent in and out of doctors' offices and emergency rooms, but he always seemed to bounce back.

Then, when Brian was 5, the first lesion appeared.

It started as a small bump, similar to a pimple, behind his ear. Soon, it hardened and raised, growing to the size of a nickel. Eventually it ruptured, oozing pus and blood. Over the years, the sore has shrunk and lain dormant, but it always comes back. And one by one, other infected lesions started sprouting on his head, neck and face.

At age 10, a doctor diagnosed Brian's malady as severe acne, telling his worried parents that it would pass. But the lesions became larger, more frequent and more prone to infection as Brian moved through adolescence.

The sores spread to his chest, armpits and groin. Soon, not only was any sort of movement painful, but the friction exacerbated the lesions as well. Brian's playful childhood, filled with bike rides and basketball games, became a thing of the past.

Without a firm diagnosis, doctors were reluctant to treat Brian. Instead, nurses would send Rebecca home armed with a scalpel, suture pack and surgical sponges, so she could clean and scrape the pustules when the pain and pressure became too much for Brian to bear.

The agonizing debridements often left both of them in tears. Brian's parents searched in vain for a doctor to help ease their load.

He was seen by pediatric infectious disease specialists, pediatric dermatologists and other experts at UC Davis Medical Center, UC San Francisco Medical Center and Lucile Salter Packard Children's Hospital at Stanford University. They had no answers.

Brian's father lobbied Shriners Hospitals to treat his son. He wasn't a traditional patient for the center, which typically provides free treatment for children with orthopedic conditions, spinal cord injuries and burns.

But there, they found a savior in Dr. David Greenhalgh.

The chief of burn surgery began performing Brian's debridements, relieving Rebecca of the burden. He also performed skin grafts, taking unaffected skin from Brian's hip and grafting it to seven places on his face. The results were mixed; four of the grafts took, while the others were rejected and fell off. Brian also had skin grafted onto his armpits, which have remained lesion-free.

As a child, Brian retained a sunny optimism made all the more remarkable by his situation.

"He would say to me, 'Don't worry Mom, this is all I have ever known. I can deal with it,' " said his mother.

But he has grown increasingly despondent as his condition worsens, the pain intensifies and treatment remains elusive.

"He has shut down," Rebecca said. "It is hard to get him to laugh at anything anymore. When you look into his eyes, you see something different now -- so much worry, stress, so much age there."

His schooling has suffered from repeated hospitalizations and absences caused by pain; although technically a junior in high school, he has a seventh-grade education.

The one thing that perked Brian up in recent months was the thought of going to get his driver's permit when he turned 16. But when the time came, he couldn't get the permit because he was medicated. His pain has increased to the point where he subsists on a cocktail of phentenol and Percocet, powerful painkillers. And he can't go off the medication long enough to take his driver's test, because the pain is too much to bear.

"He's so fed up now," Rebecca said. "The change in him is dramatic. He went from this courageous kid to being defeated, tired, done. That's why I called the NIH. He needs help."

Although he has grown to hate hospital stays, Brian was willing to try once more.

"My hope is that soon this will be over," he said, sitting in his bedroom days before leaving. The walls and surfaces are a window to his passions: Posters of Kid Rock, Creed and Eminem hang over his bed. Models of classic muscle cars sit on shelves. Pencil sketches he drew while in the hospital -- of low-rider cars, a little girl picking a flower, a rose in a vase -- dot the walls.

"Once it goes away, then I will be able to think about the rest of my life, the things I want to do," he said, his blue-gray eyes staring at the floor. "I have never been able to think past getting through the day, dealing with the pain."

Nearing a diagnosis

The National Institutes of Health campus in Bethesda is sprawling and lush, a collection of brick buildings large and small, dotted with green grass and tall trees.

The Clinical Center is the centerpiece of the NIH. There, in a 14-story red-brick monolith, the nation's top doctors conduct clinical research in hopes of improving detection, prevention and treatment of an array of diseases.

During three previous visits to the NIH, Brian had been tested and examined, and a variety of possible diagnoses were tossed around: chronic granulomatous disease, Chediak-Higashi syndrome, leukocyte adhesion deficiency Type 1, KID syndrome, and Vohwinkel's syndrome, among others. But his unique symptoms didn't seem to fit any of those, and doctors couldn't give a name to what was causing Brian's malady.

Last year, during Brian's third visit to the NIH, Dr. Sherri Bale, a Maryland-based skin geneticist who previously worked at the center, returned to give a lecture. Dr. Steven Holland, who was among those examining Brian, brought his case to her attention.

The timing was fortuitous. Dr. Bale had just concluded research that showed a link between skin abnormalities, deafness and mutations in a gene called Connexin 26. While Brian was deaf, doctors hadn't really connected his deafness and his skin problems.

During the visit, doctors performed biopsies on Brian and analyzed his DNA. As Dr. Bale had predicted, the analysis uncovered a mutation in the Connexin 26 gene, which controls how cells stick together and exchange information. Connexins are proteins that form gap junctions, small channels that permit cells to pass molecules and signals back and forth. In Brian's case, the mutation prevents the gap junctions from forming normally; his cells can't tell each other how to grow normally or when to die and make room for new cells.

Subsequently, Dr. Gabriela Richard, who had trained in Bale's lab, found a link between Connexin 26 mutations and KID syndrome, which stands for keratitis (inflammation of the cornea), ichthyosis (scaliness of the skin) and deafness. His skin condition, with its recurrent infections, wasn't an obvious case of ichthyosis. And doctors hadn't detected keratitis.

But the genetic mutation was certain, and so was its link to KID syndrome. Maybe, doctors theorized, Brian had a variation of the condition. Months later, Holland received a desperate call from Rebecca. Brian was getting worse and needed a treatment. Would they be willing to take another look?

Holland considered it an ideal opportunity to confirm the diagnosis and try to lessen Brian's pain.

The doctor tried to temper the family's expectations.

"Getting a diagnosis may explain it better," he said, one week before the trip. "But it might not make him better."

The battle continues

Brian and Rebecca arrived at NIH on a muggy Sunday evening. Their base was a one-bed hospital room with a cot tucked into one of the bare walls. The lighting was harsh. The only personal touches, perched on a nightstand, were black-and-white pictures of Brian and Courtney and a black teddy bear with white paws that she'd given him. That first night, Brian slept with the pictures and the bear clutched close to his chest.

At 11:45 a.m. the first morning, one dozen doctors descended upon the room, part of weekly rounds. Holland described Brian's symptoms, and the menagerie of doctors peered curiously at the scarred, well-built boy on the bed.

"Notice, he's not a skinny guy," Holland said. "Despite his skin problems, he's pretty healthy, and that's a good sign."

The visit was brief, and the doctors shuffled in and out in five minutes. Holland promised he would return later to talk about what was in store in the days ahead.

Brian prepared for a shower, an especially dreaded ritual when he scrubs his body with rough, surgical sponges in an attempt to loosen the scabs and dead skin. Before getting in, he takes a strong, fast-acting dose of phentenol in the form of a lollipop. Usually, he emerges bleeding.

Now, he perched gingerly on the edge of the bed, lollipop in mouth, head in his hands, and waited for relief.

That afternoon, the battery of tests began.

It started with a visit to the ophthalmologist, who performed a series of scans. Brian was given eye-numbing drops. Paper strips were hooked into his lower eyelids to test his tear reaction. His pupils were dilated, dyes applied and blue beams of light shined directly in. Brian sat impassively through it all, until the painkillers wore off and he wrestled with growing discomfort.

Then, a rare candid moment.

"It's like this all the time," he said. "It never stops. I never get a break from this. It follows me wherever I go.

"This is why I can't sleep. I think about it every night. This is one pain-in-the-ass life."

The ophthalmologist returned and confirmed that Brian has keratitis. It's faint, but keratitis nonetheless.

Rebecca's face dropped.

"It's KID syndrome," she said, to no one in particular.

Only 70 cases of KID syndrome have been reported worldwide. The disease is so rare that the ophthalmologist had to log on the Internet for guidance. "It's the first case I have seen," he said.

Brian didn't react. Rebecca wrestled with conflicting emotions.

KID isn't fatal. But it is genetic, with no known cure. All along, Brian and his family had held out hope that somewhere out there, a miracle cure was waiting.

Over the next five days, Brian and his mother traipsed from one sterile clinic to another, getting to know the 14-story labyrinth well. Day after day, Brian sat stoically as a succession of doctors, nurses and medical experts inspected and peered.

A radiologist raised the possibility of using low-dose radiation as an experimental means of killing off cells. An audiologist tested his hearing. An ear, nose and throat specialist suggested a Walkman-like device that would allow him to hear his teachers better in class.

"I don't want it," Brian responded quickly. "I'm tired of being teased all my life."

Dr. Gabriela Richard, the geneticist who discovered the link between a Connexin 26 mutation and KID syndrome, took a train from Philadelphia so she could examine Brian and help confirm the diagnosis.

During one appointment, she was one of four doctors who huddled around Brian, pressing, rubbing and gazing. They used a magnifying glass to look at his feet, his palms, his legs, his back. They mumbled among themselves about his unusual characteristics, and nodded sagely when the symptoms made sense. Through it all, Brian lay quietly on his stomach.

The mutation was random, Richard explained; it happened by chance. Rebecca sighed with relief.

"That was quite a dark cloud for us," she said. "I tried hard to be healthy during my pregnancy. My husband is an ex-drug abuser, so he wondered if he was somehow responsible. We were trying to assign blame. But now we know it was just a fluke."

On the elevator ride back to the hospital room, neither Brian nor Rebecca said much as each wrestled with this new reality. The disease now had a name, but no cure. And what about all those false diagnoses over the years? Could this be another one?

Back in the room, Brian headed straight for the phone and called Courtney. They chatted quietly for a few minutes, until Brian asked Courtney to hold on.

"Mom, what's the name of what I have again?" he asked matter-of-factly.

"KID syndrome," Rebecca replied firmly.

Later that day, Brian talked about the flood of new information he was being dealt.

"I know a lot more than I did, and that's good," he said. "I understand a lot more now about why this happened. I feel better. I have more hope." Rebecca had a harder time of it.

She worried about her daughter left behind at home, once more taking a backseat to Brian's health. She worried about her husband, home fretting that he couldn't be with them because they couldn't afford another plane ticket. She tried her best to relay the information she was receiving, but knew she wasn't explaining it the way a doctor would. And she grieved over the knowledge that a miracle cure was no longer a possibility.

"It seems more scary now," she said. "Before, I felt like we had hope. Now, I feel like we don't have any."

During a tearful private conference with Holland, Rebecca confided her fears.

"I feel like I'm more the doctor and the nurse to Brian, and I just want to be a mom to him," she said. "I am always worrying about his medication, telling him he can't go out and do things because I'm afraid he will bleed or hurt. I don't want him to resent me for that, but I can't help it. "I just want to be done. And I feel selfish for saying that."

Holland, a bearded, bespectacled man with crinkly, compassionate eyes, reassured her.

"You have done a great job getting to where you are," he said. "You've been through a lot, and Brian has been through a lot. Your reaction is perfectly normal."

It was time to talk about treatments.

There are three possibilities, Holland told Rebecca. The first is to continue with the debridement. The second is to try low-dose radiation to see if it is successful in killing some of the troublesome cell replication that causes the skin growths and infections.

The third and best option, Holland said, is Epicell skin grafts. In Epicell, small biopsies of a patient's skin are taken to a lab and grown into sheets of skin, then grafted onto the patient. Usually used on severe burn victims, it is expensive, at about $15,000 per procedure, and there is a chance of rejection.

Despite the cost and risk, Brian and his family felt this was the most promising option. But Rebecca was fearful that, upon returning to Sacramento, there would be problems with the cost and finding a surgeon willing to perform the grafts.

"I don't want to go home and have nothing happen," Rebecca said.

Holland vowed to contact Shriners and UC Davis Medical Center to persuade doctors this was Brian's best option. "The only thing I can promise you," Holland said, "is it's not over."