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Child caught in diagnostic limbo

BY JAMIE TALAN | NEWSDAY STAFF WRITER

5:12 PM EDT, October 23, 2006

At age 5, Hunter Cavanaugh bounces a Spider-Man doll on his bed and flips a Superman action figure over his head. He shows off his room, complete with pictures of his favorite characters. And in the spirit of any brave superhero, he is not stopped from slaying beasts in his fantasy by the gastric tube that fills his body with nourishment, the tracheotomy that allows him to breathe through a hole in his throat, and the tumors that protrude from his face, head and neck.

Meanwhile, his parents are doing their own heroic job of finding a way to save their son, born with tumors that deform his head and neck, not unlike the famous Joseph Merrick, a 19th-century Englishman whose poignant life was featured in "The Elephant Man," the 1980 David Lynch movie. People stare, they look away in horror, they whisper, and in the worst cases, they say dreadful things.

"Take off his mask," a woman pleaded with Hunter's mother on the playground. "It's scaring my child."

Hunter may have a severe and rare form of neurofibromatosis, his doctors say, but because he doesn't have the two genes that have been linked with the disease, a definite diagnosis has been hard to come by. Now, Hunter's parents, Bianca and Eric, say that advances in neurofibromatosis are passing them by. Without an official diagnosis, without a damaged gene, the child doesn't qualify for any experimental treatments that may help, they say.

What's more, to afford the medical supplies needed daily to help Hunter eat and breathe, and the endless doctor appointments and surgeries, the family reduced their earnings to near-poverty to enter the Medicaid system. That in itself, the family says, makes it more difficult to find state-of-the-art treatment. Hunter's tumors also caused deafness, and now other tumors are close to his optic nerve in one eye, threatening blindness.

"There has got to be some treatment out there that could help Hunter," said his mother, who works for a publishing house in lower Manhattan. Because of Medicaid regulations, her husband quit his job so Hunter could qualify for federal insurance. The one exemption that would allow the Manhattan couple to work and earn a middle-class wage is not open to them. They would qualify if Hunter had mental retardation. He doesn't. In fact, he just started first grade at the New York School for the Deaf -- a year younger than his classmates.

The couple, almost broke, are now rethinking their options.

Experts in neurofibromatosis say cutting-edge science is progressing, but there is nothing so far that can reduce the fibromas that have deformed Hunter's head and neck. At 19 months old, the boy had the tumor tissue cut away in a 14-hour surgery, but the tumors grew back almost immediately, the Cavanaughs said.

Science will dictate

The direction of the science is another important reason to figure out what caused his tumors. Dr. David Gutmann, director of the Neurofibromatosis Center at Washington University School of Medicine in St. Louis, agreed that much of the current research is directed at fixing the two identified neurofibromatosis genes -- NF1 and NF2.

"This is a pretty good success story," Gutmann said. "We are moving forward, but not fast enough for patients -- yet."

Experts agree that without a clear-cut diagnosis it is unlikely that Hunter would qualify for clinical trials for neurofibromatosis patients. Should he enter a study and the treatment fail to work on him but succeed on others, it could render the study information useless, scientists say. They do add that tests to identify genetic abnormalities are better than when Hunter was first tested in his first year. But even with the latest tests, mutations on his chromosomes still might not show up, Gutmann said.

Bianca Cavanaugh had a normal pregnancy, with no hints of what was to become a life-threatening delivery for her son. Following an emergency C-section, doctors saw the deformed child and told the couple that he would be blind, deaf and retarded. His heart stopped soon after he emerged into the world, and they resuscitated him. It would happen a number of times in the weeks to come, until the couple finally decided to sign a "Do Not Resuscitate" form, which was placed at his cribside.

Hasn't missed a beat

His heart hasn't skipped a beat since then. And Hunter is not blind or retarded. His hearing loss emerged because of the tumors lodging into his ear canal. He's since had a hearing aid implanted.

Because of his complex medical problems, Hunter spent the first year of his life at the New York Foundling Hospital in Manhattan. But by 5 months of age, it was clear their son was developing normally. "He was totally responsive to the world," his mother recalls. Finally, at 14 months, hospital officials said he was ready to go home.

Though Hunter qualifies for round-the-clock nursing, the couple have always managed without it. Their one-bedroom apartment has no room for another person, they say. As it is, Hunter got the bedroom; his parents sleep in a bed that doubles as a couch in the living room.

Despite the endless medical appointments and attention to Hunter's tracheotomy and feeding tube, his life seems pretty normal. "His attitude is great," said his father. "He goes through so much, and he's so upbeat."

"He blows people away," added his mother. "He's an engaging, funny and creative kid."

He knows he looks different, his parents said, but recently the unrelenting stares and frightened looks from strangers caused him to twice ask, "What happened Hunter?"