A Tragic Question of Disclosure

Arleen and Albert Phang are not blaming anyone for the first son they lost. In April of 1991, despite the efforts of doctors at the Loma Linda University Medical Center, 16-month-old Andrew died of heart failure within hours of being rushed to the hospital.

The hospital conducted an autopsy after his parents signed a consent form and placed an “X” in the little box by a seemingly simple instruction: “Send family a copy of final autopsy report.”

The autopsy suggested that the cause of the boy’s heart condition was one of several possible genetic diseases. And the seven-page autopsy report said that doctors should “pursue” that possibility: Any child of the Phangs would have a 1-in-4 chance of inheriting the disease.

But the Phangs, who live in Fontana, were mailed only the report’s cover sheet. Though it listed 14 pathological findings, it made no mention of a genetic disorder. And they say that no doctor at Loma Linda discussed that with them, either.

In 1993, two years after Andrew’s death, Arleen and Albert had a healthy daughter.

Then, in December 1995, they had a son, Alexander. At 6 weeks of age he died of a genetic disease--in all probability the same one that killed his brother. His life might have been saved if the disease, known by the acronym LCHAD, had been detected early and treated, some doctors say.

In an unusual lawsuit, the Phangs claim that the hospital caused Alexander’s death by not telling them the reason for his brother’s. For its part, the hospital maintains that conveying the autopsy results was primarily the job of the boy’s physician, defense attorney Dennis Ames said.

The wrongful death lawsuit, awaiting trial in state court in San Bernardino, highlights the lack of local regulations and professional guidelines covering private hospitals’ disclosure of autopsy results. By contrast, county medical examiners are required to release complete reports.

Beyond that, the case raises questions about caregivers’ responsibilities and patients’ rights in the coming heyday of medical genetics. The need to cope with vital but complex genetic realities will only grow as scientists discover that genes play a role in an expanding array of diseases, from cancer to dementia.

“The more we find out about genetics, the greater the obligation that physicians and health care professionals will have to convey hereditary information to persons whose lives are affected by it,” said Mary Pelias, a Louisiana State University law professor who specializes in legal and social issues related to genetic testing.

LCHAD is a prime example of genetics’ broadening horizon. It is one of more than a dozen related “inborn errors of metabolism” affecting infants and children that scientists have recently discovered. Collectively known as fatty acid oxidation disorders, they are lifting the veil from a number of previously mysterious childhood deaths.

Researchers now believe that some cases of sudden infant death syndrome may be the result of various fatty acid oxidation disorders. “The field is exploding,” said Dr. Piero Rinaldo, a geneticist at the Yale University School of Medicine.

While exact incidence figures are not available, he estimated that perhaps one in 5,000 to 10,000 babies are born with a fatty acid oxidation disorder of one kind or another. That would make the group of disorders as a whole more common than PKU, a well-known genetic metabolic affliction that newborns are routinely screened for and that strikes one in 15,000, he said.

Simple diagnostic tests are not routinely available for every fatty acid oxidation disorder, and it would not be practical to screen all newborns, medical researchers say. Still, physicians are generally not aware that the disorders occur as often as some better-known genetic ailments. “That gives me the chills,” Rinaldo said.

A Gray Area

To anyone not familiar with so-called autopsy protocols--where the official signatures typically appear on the first page rather than the last--the cover sheet that the Phangs received could be mistaken for a complete report.

In retrospect, the most crucial information about Andrew’s death uncovered during the autopsy appeared on Page 2. The four-paragraph analysis concluded that “disorders of fatty acid metabolism are the most likely metabolic conditions to explain these [clinical and post-mortem] findings.” Though the pathologist did not pinpoint which metabolic disorder the boy appeared to have--no definitive genetic test was performed--he named a few strong possibilities, including LCHAD (pronounced “L-chad”).

The analysis closed by noting that such disorders were “autosomal recessive”--that is, both parents are carriers of a faulty gene, and although neither is affected, there is a 1-in-4 chance that any child of theirs will inherit the gene pair necessary to cause disease. Finally, the report said that because “methods are available for detecting carrier states in parents and siblings, it may be worthwhile for clinicians to pursue this line of inquiry.”

Physicians and legal scholars who reviewed the statement for The Times interpreted it as the pathologist’s recommendation to offer the Phangs diagnostic tests to see if they are indeed carriers of genes for fatty acid oxidation disorders.

Still, a physician’s responsibility to follow up on such information falls in a gray area.

“I’m not aware of any laws specifically about this in California,” said Dr. Edward R.B. McCabe, a geneticist and chief physician at UCLA’s Children’s Hospital. “It’s an area of hot discussion and it’s still evolving,” he said of doctors’ ability to convey mountains of new genetic information.

“If it’s a daunting task now, it’s going to be an incredible problem in the not-too-distant future.”

Louisiana State’s Pelias, who is on leave in Washington helping the Senate craft genetic privacy laws, says that physicians who fail to inform patients about genetic risks are increasingly subject to malpractice suits. “Medical geneticists may have a duty to disclose both current and future information about conditions that are or could be inherited,” she wrote in the American Journal of Medical Genetics.

“The simple obligation in such cases is that the relevant information is conveyed to the relevant parties,” said Dr. Paul Billings, a medical geneticist at the Palo Alto Veterans Affairs Medical Center. “In genetics, you’ve got to have good follow-up.”

The Phangs say they did not learn of the pathologist’s explanation of Andrew’s death until four years later--the day after Alexander died at Childrens Hospital Los Angeles. Dr. Julian Williams, a geneticist at Childrens, came across the full autopsy report while reviewing Andrew’s medical records. He called the Phangs to ask why they had not mentioned it before. He read to them from Page 2.

“We were stunned,” said Albert Phang, 35, a machinist at Entenmann’s Bakery. “We were looking at our autopsy report and what he was reading wasn’t there.”

“Here it was in black and white, showing us that what Andrew had was the same thing that Alex was sick with,” said Arleen, 36, a homemaker. “My husband and I just walked around like zombies for a week, grieving.”

Policies Differ

In their lawsuit against Loma Linda Medical Center, a private facility run by the Seventh-day Adventist Church, the Phangs and their attorneys, Eric and Catherine Goldman of Berkeley, allege that the institution routinely withholds complete autopsy reports to avoid divulging details about a patient’s treatment that might be used in malpractice suits.

Defense lawyers say that the Phangs are trying to raise the stakes. Indeed, if they showed that the hospital’s action reflected a systematic intent to deceive, rather than negligence, they could be eligible for punitive damages in excess of the standard wrongful death award in California of $250,000.

So far, courts have twice denied motions to consider punitive damages as part of the lawsuit. An appeals court ruled in September that the Phangs had “no evidence to support their assertion that [the hospital’s] practice of sending only the face sheet was designed to damage them.” And the hospital’s “explanation that the policy” of issuing only autopsy cover sheets “to provide the necessary information while sparing families the gritty details of the autopsy procedure,” the court said, “is perfectly credible and reflects an effort at humanity rather than ‘despicable’ conduct.”

In any event, the Phangs claim in the lawsuit that the hospital autopsy consent form misled them. They say they interpreted the offer to “send family a copy of final autopsy report” to mean they would receive the complete document.

Private hospitals set their own policies regarding autopsy reports. Dr. Mary Case, chief medical examiner for St. Louis County, Missouri, and chairwoman of forensic pathology for the American Society of Clinical Pathology, said it was “unorthodox” for Loma Linda to release just a cover sheet to patients. But she added that there are no professional standards governing that practice.

At the same time, Billings said that it was not unheard of for a hospital to send only a summary of an autopsy report to a family.

Billings said that the Phang case underscored a point often neglected in the excitement over the growth of genetic screening: To analyze someone’s genes is to learn a great deal about the susceptibilities of that person’s siblings, children, and perhaps even children’s children. “Genetic information is family information,” he said.

There was one other communication breakdown between the hospital and the Phangs--and it, too, is a focus of legal dispute. The couple say they repeatedly called the attending physician who treated Andrew, Dr. David Van Stralen (who is also being sued), to get a fuller explanation of the autopsy findings. But the Phangs claim in their lawsuit that Van Stralen “told [Arleen] that their best guess was that Andrew’s heart was enlarged by a virus and that the matter was now closed.”

Van Stralen maintains that he told the Phangs to consult with another physician, a geneticist, about the autopsy findings, and that the couple did not follow up on that, according to his attorney, Nathan Schilt.

“What we have here is a failure to communicate,” Schilt said.

A Fatal Enzyme Flaw

If the Phangs had known earlier about Andrew’s disorder, could Alexander’s death have been prevented? Probably, some medical experts say. But LCHAD is so newly recognized--it was discovered about 1990--that doctors know little about the life expectancy of patients who undergo optimum therapy.

Dr. Bruce Barshop, a medical geneticist at the UC San Diego School of Medicine, said the longest-living LCHAD patient he knows is an 8-year-old boy. “I think the prognosis is quite good, though there’s always the possibility” of a deadly metabolic crisis “coming out of the blue.” He said LCHAD was “probably underdiagnosed nationally and worldwide.”

No studies of the disease’s incidence have been done, but Yale’s Rinaldo estimates that about 1 in 50,000 to 100,000 babies is born with the disorder. (That would amount to 38 to 76 newborns with the disorder in the United States annually.)

Like other fatty acid oxidation disorders, LCHAD is a fatal flaw in the enzyme pathway the body uses to burn fats for energy. Those with the disease lack one of the crucial enzymes in that pathway--long-chain 3-hydroxyacyl-CoA dehydrogenase, or LCHAD. The problem occurs if they inherited a pair of genes with faulty instructions for making the enzyme.

When people with LCHAD go without food for a while, their metabolism--like anyone else’s--tries to break down fat. But that process is short-circuited by the genetic defect. Organs and tissues starve, leading to lethargy and coma. The heart, with its unceasing energy demands, is usually the first organ to fail, as happened with both Phang boys.

Despite being such a complex disease, LCHAD has a simple dietary therapy. To keep the body from relying on fat metabolism, doctors instruct patients to avoid fasting and to eat many small meals throughout the day, including a bit of cornstarch before bed. In addition, patients consume a specially formulated fat--medium chain triglycerides, or MCT oil--that the body can break down. Other supplements and drugs may also be prescribed.

As soon as a baby known to be at risk for LCHAD is born, doctors will put it on the special diet as a precaution, even before they are sure that the enzyme defect is present.

Alexander wasn’t treated until it was too late. One Sunday night, when he was 2 weeks old, he turned blue, his mother said. Paramedics rushed him to Loma Linda Medical Center, where he remained in intensive care for several days. Blood and other tissue samples were sent for analysis.

After a test done at Childrens Hospital Los Angeles revealed LCHAD, he was flown there by helicopter. He was connected to a heart-lung machine, given medications and put on the special diet. His heart rebounded, but the disease had weakened him so that he died of a lung infection resulting from the breathing machine.

His physician at Childrens, Williams, an authority on genetic metabolic disorders, declined to be interviewed because of the pending litigation, in which he is serving as an expert witness for the plaintiffs. But he said in a deposition in December that “because Alex had responded to the treatment with normalization of heart function . . . treatment soon after birth could have resulted in a less severe illness and possible survival.”

The Phangs say they believe the reason that Alex is gone is a piece of paper--Page 2 of brother Andrew’s autopsy report. “It’s like his autopsy was done in vain because we did not get the information we were supposed to get to prevent it from happening again,” Arleen said.

(Doctors have since tested the other two Phang children, Albert, 9, and Analee, now 4. Neither has LCHAD.)

Now and then, the Phangs drive 20 minutes from their house to a cemetery in Redlands where two graves rest side by side. The first marker bears Andrew’s name, and it might be looked at as a monument to blind, blameless chance, the 1-in-100,000 odds of being born with LCHAD.

The second marker is Alexander’s, and to the Phangs it represents a tragedy of another sort.

“It’s been torture, really,” Albert said. “To lose a second son and then learn the reason why. It’s hard to just get on with my life right now.”

“We think about it all the time,” Arleen said. “If things were just different from the beginning, we might have Alex with us now.”