Osteogenesis Imperfecta

The wrong diagnosis tears a family apart

MELISSA, JUST 1 YEAR OLD, was playing with toys on the floor in my office. Her mother, Lisa, sat on a couch, three feet away Her father, Barry, sat at the other end of the room. Not once during the hour we spent together did Lisa and Barry make eye contact or speak directly to each other. At no time did Melissa attempt to crawl toward either of her parents; nor did she look to her parents for comfort. This isn't the way most families behave during their first visit to a medical geneticist.

Before the appointment, Melissa's pediatrician had briefed me about the case. Melissa was the Moores' first child. After an uncomplicated pregnancy and delivery, the couple took the infant home. Lisa, then 23, had taken a leave of absence from her job at a nursery school. Barry, 25, a stockbroker, returned to work after three days of paternity leave.

Melissa seemed like an ideal baby: She nursed well, was not at all fussy, and cried only when hungry

When Melissa was 15 days old, everything changed. That morning, she cried and refused to nurse. Figuring a wet diaper might be causing discomfort, Lisa began to undress her. She was in for a shock. Melissa, still screaming, held left arm limply while flailing her other arm and both legs.

Worried about the lifeless left arm, Lisa called her mother, who advised her to rush Melissa to the local emergency room.

An ER physician, David Rao, briefly examined Melissa, then sent her for an X ray

After what seemed to Lisa like hours, Rao reappeared, accompanied by a woman who introduced herself as Ms. Lily Compton. Rao and Compton sat down across from Lisa.

Compton explained that she was a social worker for the emergency room. The X rays, she said, revealed Melissa had a fracture in her left arm.

"Was Melissa injured in the past few hours?" Compton asked.

"No," Lisa replied. She explained that Melissa had been in her bassinet, sleeping, just before she started crying.

"Has anyone else been around the baby today?"

Lisa said that she and Melissa had been alone since her husband had left for work hours before. Compton asked for Barry's work number. Then Lisa asked if she could see Melissa.

"I'm afraid that won't be possible," Compton told her. She went on to explain that because there wasn't a good explanation for how the infant had been injured, it was the hospital's legal responsibility to classify Melissa as a victim of child abuse. As such, authorities would not be able to return the child to Lisa until a full investigation had been carried out and she and her husband were no longer suspects.

"Suspects?" Lisa said, rising to her feet. "You think I hurt my daughter? You think I could have broken my daughter's arm? Who do you think you are?"

Lisa lunged for the social worker and was restrained by two hospital guards who took her to a small room nearby While the guards kept vigil outside the door, Lisa sat alone, filled with anger and sadness.

Eventually, a local police officer came to take a statement from Lisa. Then an investigator from the state's Child Protective Service appeared and asked a few questions. Finally, responding to the call from Compton, Barry arrived to pick Lisa up. He drove her home and she went right to bed.

In the days that followed, a full set of X rays revealed that Melissa had sustained three broken ribs sometime before the arm fracture. Unable to identify any other cause for the fractures, Child Protective Service investigators concluded that the infant had been abused--beaten by either her mother or father. Lisa and Barry's daughter, who had left the hospital with an emergency foster parent, was placed in permanent foster care.

The Moores were allowed to see their daughter only one hour a week during supervised visits to the foster home. An attorney advised the couple that they were unlikely to ever get Melissa back unless one of them pleaded guilty to the abuse charges and agreed to undergo counseling. There was a good chance, he said, that a court-appointed psychiatrist would eventually conclude it was safe for the couple to be reunited with Melissa.

They decided to heed the attorney's advice. In private, both continued to maintain their innocence. But Lisa told authorities she had beaten Melissa.

Lisa and Barry began to fight constantly Lisa blamed Barry for Melissa's injuries, and Barry blamed Lisa. Several weeks after Melissa's visit to the emergency room, Barry moved to a friend's apartment and retained an attorney for his own defense.

Lisa became more and more depressed. She lost her job at the nursery school. Her friends stopped calling. She couldn't sleep; nor could she gather enough energy to get out of bed. She had no appetite. She was desperate to get Melissa back. In the meantime, she read everything she could about child abuse.

In her reading, Lisa stumbled upon the term "osteogenesis imperfecta," a condition also known as brittle bone disease. Suddenly, her daughter's injuries no longer seemed so mysterious. Maybe she had brittle bones. Lisa called Melissa's pediatrician, Jeremy Stanger, to ask about testing for the disorder. Stanger, in turn, called me.

Osteogenesis imperfecta, or OI, is a relatively rare disease -- an estimated one in 20,000 births--caused by a mutation in one of the two genes responsible for production of type I collagen, an important building block of bones and connective tissue. At its most severe, ox can make the bones so fragile that the ribs fracture during delivery; the resulting deformity in the chest wall can cause fatal respiratory problems. At its least severe, OI may cause an individual to suffer one or two fractures during childhood, a number that would not raise suspicion. Most cases fall somewhere in between, with fractures occurring relatively often after bumps or falls that would normally cause nothing more than a superficial bruise.

Stanger told me he had met the family on four occasions prior to the incident in the emergency room.

"You can never be sure about it, Bob," he said, "but these people did not strike me as the abusing type. When the mom called today, I realized she might be right." Was it possible this baby could have OI?

In most cases like this, it does turn out that one of the parents has been battering the child, I told him. But I've been involved in other cases where children have wound up in foster care because the diagnosis was missed. The X-ray findings in OI usually aren't subtle: The bones look different from a normal child's, with less calcium and thinner cortices. But a general radiologist might not pick it up. The films need to be reviewed by a pediatric radiologist.

"Is that enough to prove the diagnosis?" Stanger asked.

"It is to me," I said, "but since you've got the legal system involved here, you'll have to prove the diagnosis at the biochemical level." We needed a skin biopsy on the child to see if the collagen her cells made was abnormal.

A few days later, Lisa's lawyer petitioned the court to allow the skin biopsy, a minor surgical procedure. After weeks of paperwork, the court approved the procedure. By then, Melissa was more than 8 months old.

It took four months for the laboratory to finish its study. The final report stated that Melissa's cells produced an abnormal form of type I procollagen, the precursor of type I collagen. The lab concluded that the child had osteogenesis imperfecta.

Melissa was nearly a year old when the social worker who served as her court-appointed guardian received the news. From that moment, the wheels of justice moved swiftly: Within two days, a judge had ruled that, as a result of the new information, the child should be returned immediately to her mother's care. Melissa was taken out of the foster home and moved back to the home of her mother, now a relative stranger.

The family's visit to my office occurred just about a week after Melissa and her mother had been reunited.

"Although Melissa had a rocky course in the first weeks of life, that doesn't necessarily mean she'll have a lot of fractures in the future," I told her parents. I've seen kids who had multiple fractures at birth, continued to fracture during the first few months of life, and then never suffered a fracture again. On the other hand, I've also seen kids who had no fractures for the first year or two, and then had them at the rate of six or seven a year. Where Melissa would fall in this range I couldn't predict.

"Should Melissa have been diagnosed in the emergency room?" the mother asked.

I hesitated. Before the family had arrived that day, I'd reviewed the emergency X rays with our hospital's pediatric radiologist. They showed some of the characteristic changes that occur in infants with OI.

"Yes," I said finally "Had the X rays been read by a specialist in pediatric radiology, I think they could have made the diagnosis back then."

Since the Moores first came to my office three months ago, Melissa has suffered no new fractures. She and her parents seem to be doing as well as can be expected, and a fragile bond has grown between the child and her mother. I think they'll make it through this in reasonably good shape.

Still, I'm troubled by the senseless agony the Moores have endured. Melissa was taken from her parents during perhaps the most critical year of her life. Lisa and Barry having come to mistrust each other, split apart. For no good reason, Lisa lost her job, her friends, and ultimately her dignity. This was indeed a case of abuse. It wasn't abuse inflicted by a parent on Melissa; it was abuse inflicted by the state on an innocent family--and all because of a missed diagnosis.

The case described in Vital Signs based on a true story. Some details have been changed to protect the patient's privacy.

DOCTOR ON CALL

Robert Marion is a professor of pediatrics at Albert Einstein College of Medicine and director of genetics at Montefiore Medical Center and Blythedale Children's Hospital. A native of New York City, he now lives in Mamaroneck, New York. The most recent of his six books is Rotations, published by HarperCollins. He is working on a seventh, called Genetics Rounds. "Although the news is often bad for my patients," says Marion, "the satisfaction comes from providing service to the family. Everyone in the family is a patient."

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