While rummaging through the National Archives a few years ago to prepare
for a family reunion, Lorenzo Nichols stumbled upon a family secret -- great-aunts and -uncles who had died in infancy back in South Carolina in the 1920s. The records said nothing about cause of death, but Nichols, a blunt-spoken retired Secret Service agent, had his suspicions. His son Zakee, born in 1980, had been hospitalized repeatedly from the time he was a year old with shooting back and leg pains from sickle cell anemia. "In the old days they'd call it 'growing pains,'" says Lorenzo, 51. "They'd say, 'So-and-so got the growing pains and died.' And that'd be all."
The days when infant sickle cell patients simply caught cold and died
without even being diagnosed are mostly, though not entirely, in the past.
Befitting his profession, Lorenzo and his wife, Veronica, 49, have taken no
chances in Zakee's care. They brought their only son up with the conviction
that sickle cell could be survived if its dangers were respected, and made
sure he avoided cold drafts, hard exercise and other behaviors that put
patients at risk for pneumonia, pain crises and other ravages of the
disease. But there were things even they couldn't control. Around the
time his father began peeking into the history of the family's sickle cell
genes, Zakee, a seriously thin, bespectacled youth, left the pediatric
clinic and entered the world of adult care. And that, say advocates of
patients with chronic illnesses, is a dangerous place to be.
Washington Children's Hospital Center had been Zakee's home away from home from the time he could crawl. Children's coddled its young charges with social workers and play rooms, treats and family services. The adult clinic at the hospital where Zakee goes now has none of that. To be sure, Zakee had the good fortune to be living at home, comfortably, in a small subdivision in the countryside south of D.C. He was under the protection, as a college student, of his father's excellent government-issued insurance. But the future loomed menacingly. Once he entered the workplace. his "pre-existing condition" would be an albatross, warning away prospective employers leery of jacked-up insurance premiums.
Sickle cell disease is a genetic illness characterized by fragile, crescent-shaped red blood cells that are inadequate oxygen carriers and cause painful
clogging of the blood vessels. The adult sickle cell patient's world is
laden with obstacles -- unpredictable, wrenching pain episodes; complications of the spleen and liver; leg ulcers and hip replacements; stroke. Worst of all, for many patients, is the vulnerability -- the fear of being forced to enter a strange emergency room whose staff, unfamiliar with sickle cell, are skeptical of the typical patient's need for large doses of powerful narcotics like morphine, Demerol and Dilaudid.
The Nicholses were taking no chances. "I'm studying business," said Zakee,
now 19, "because I'm going to have to be independent, and well off."
Increasingly, as science gains new footholds in its comprehension of
genetic disease, patients with inherited disorders are surviving well into
adulthood. Sickle cell and cystic fibrosis are two good examples. In a
sense, the diseases are shadow images of each other: Both are caused by
mutations in a single gene that, in our evolutionary past, conferred
advantages: A single sickle cell gene protects the carrier against malaria;
a single cystic fibrosis gene helps stave off cholera. But until the last
few decades, children who inherited copies of the mutated sickle cell or
cystic fibrosis genes from both parents did not survive. Credit molecular
medicine with changing that. Today, the 90,000 or so Americans with sickle cell have a median life expectancy of about 45; the 30,000 cystic fibrosis patients, on average, will live into their 30s -- and beyond, if new
treatments live up to their promise.
But in the era of cost-cutting managed care, the world in which these
patients survive is not all that welcoming. These patients are at the crux
of the central paradox of American medicine -- increasingly sophisticated
diagnosis and treatment, and increasingly short funds to pay for them. The
20 or so top sickle cell centers across the country are struggling
financially because of low reimbursement from insurers for the myriad
services required to take care of this chronic disease. Patients too poor
to afford good private insurance (or the supplemental care required) find
themselves switched from doctor to doctor, struggling to get referrals to
specialists who know how to take care of them. When their regular care
suffers, they end up being treated in the emergency room, and suffering
Take Floyd, a 48-year-old Baltimore warehouseman who was forced to stop
working in June when he developed leg ulcers, a frequent complication of
sickle cell. Floyd, who didn't want his last name used, was switched from
his employers' insurance to a welfare HMO, and found that everything got
harder. "You're trying to see the doctor you're familiar with and you need
to get written permission from the stranger they send you to and most of
the time you can't get it. You're dealing with the doctors' egos -- you know
what kind of treatment you need but they all have their own opinions and
you don't want to insult them. I stopped work because they want me to stay
off my feet. But I've been running from agency to agency trying to get my
disability for six months, so I'm still on my feet, but I ain't getting paid
for it. And I could write a book about my experiences in ERs. I've been
thrown out of hospitals bodily."
Floyd says he's learning the system -- but
"a lot of sickle cell patients do not fight," says Joan Wise, chairwoman
of Floyd's sickle cell support group. "They just go along with the
program, and they are treated badly because they don't know nothing about
"A lot of people are being denied treatments that could extend their
lives," says Beth Sufian, a Houston attorney and cystic fibrosis patient
who frequently defends people with disabling illnesses. Two new cystic
fibrosis drugs -- Pulmozyme, which liquefies excess lung-clogging DNA, and an aerosol antibiotic called Tobi -- have become the standard of care for CF patients, but together they cost about $50,000 per year. HMOs sometimes refuse to pay for them; that's when Sufian steps up. "We can have the best drugs, but if there's nobody to pay for them, nobody's going to get them," says Sufian. The chronically ill survivor of an inherited disease is the nightmare of the insurance industry, she says: "Doctors try to tell the insurance companies that these drugs will save lives -- but the insurance companies in fact could really care less."
As difficult as their lives are, cystic fibrosis patients have some
advantages. Almost exclusively white people, they have the well-run Cystic
Fibrosis Foundation, started in 1955, working on their behalf. The
foundation has attracted numerous well-heeled, well-connected sponsors
(Bill Gates gave $20 million to the group last month; and the CF gene was first isolated in 1989 by Francis Collins, now head of the NIH's genome
institute). By contrast, sickle cell patients lack resources and
clout -- perhaps because AIDS and asthma, two other diseases that
disproportionately affect poor African-Americans, have absorbed so much
attention and money. Sickle cell disease "hasn't caught on for
philanthropy," says a leading sickle cell doctor. "The white population
looks at it as a disease of African-Americans and the African-American
philanthropic community really hasn't championed it -- I don't understand
why." Despite huge annual budget increases at NIH, the National Heart, Lung and Blood Institute's funding for sickle cell research has declined
steadily since 1994, when it peaked at $47 million.
About 90 percent of American cystic fibrosis patients are treated in
specialty clinics certified by experts in the disease; fewer than half of sickle
cell patients are believed to enjoy such care. Whereas the Cystic Fibrosis
Foundation has mandated that the clinics it funds and certifies each have
at least one adult specialist by the end of 2000, there is no similar
standard of care for sickle cell.
In fact, many specialty clinics are
reeling under cutbacks. Dr. Elliott Vichinsky, a prominent specialist who
cares for about 600 sickle cell patients at Children's Hospital in Oakland, Calif., estimates that fewer than 20 percent of the services he provides are
reimbursed by insurers, about a third the level of a decade ago. "Managed
care and chronic illness are a devastating combination," he says. "Managed
care wants to cherry-pick out the sick patients, and with sickle cell
you're dealing with a rare illness in a group with limited political clout
and a shortage of physicians interested in treating it."
This observation is seconded by Dr. Oswaldo Castro, who heads the adult
sickle cell clinic at Howard University, the largest in the Washington area, where Medicaid patients -- a large segment of the sickle cell
community -- are now funneled into HMOs. "These patients require continuity of care by specialists. With the new gatekeeping paradigm, they have difficulty getting the follow-up visits. We're seeing fewer patients than
before because they have more trouble getting referrals."
The industry responsible for the care of the chronically ill readily admits its failings. "The opportunity is there to establish personalized care for the chronically ill, but in too many locations the approach is to ratchet down payment to the doctors and providers who have the courage to take on these patients," says John Selstad, vice president of the National Chronic Care Consortium, which represents large health care companies that care for the chronically ill. "Those seeking to do a better job get penalized."
Because of their poor health, sickle cell patients frequently have trouble
living independently as adults. That leads to depression. The social
workers and family counselors available to kids aren't there for them as
adults. "They must fend for themselves," says Vichinsky. "The majority
become ER patients or get connected with a well-meaning doctor but they're unable to benefit from integrated services that can prevent deterioration." Vichinsky sees these patients after they've "been brutalized by the health care system." By then it's often too late. "Two out of three deaths in my adult population are preventable," he says.
Ivor Balin Pannell, a 35-year-old retired dancer in the Bronx, set up a
patient advocacy group several years ago in reaction to his bitter
experiences in emergency rooms. "When you're a baby with this kind of
disease they fawn all over you; they say, 'Oh my goodness, this poor baby is
in pain,'" he says. "That same baby comes in as an adult and they say, 'Look at this pain in the ass." Pannell was 25 when he found himself asking a skeptical nurse for a shot of Dilaudid one evening in the emergency room at Cornell Medical Center. "She told me, 'You're just trying to get drugs.' I was just stunned. But since then I can't tell you how many times I've been
called a drug addict to my face." Patients who tire of such humiliations
often try to medicate themselves at home, Pannell says. But it's a tricky
business, and sometimes they die. "I must have known a dozen people that's
happened to," he says.
Research has yielded improvements in sickle cell treatments, but they are
slow to come on line -- and the disease's lack of political clout plays a
role here, too. In the past few years, studies have come up with the first
effective treatment for sickle cell symptoms -- a drug called hydroxyurea,
which had been used to fight cancer. Bone marrow transplants have cured a
handful of sickle cell patients, and cord blood transplants and fetal
therapies have shown promise. NIH-sponsored teams developed a tool helpful for stroke prevention, and the FDA is evaluating a new drug, Flocor, which seems to shorten pain crises by lubricating the slide of sickle cells through the blood vessels. But these new therapies require further testing and refinement, as well as ancillary tests and treatment, and they are seldom reimbursed. So they aren't widely used.
"The problem with all these treatments is availability," says Dr. Lewis
Hsu, co-director of pediatric sickle cell at Georgia Comprehensive Sickle
Cell Center in Atlanta. There aren't enough doctors around the country
interested enough, or well-funded enough, which sometimes amounts to the
same thing, to test them out. "We're a pretty well-funded center," says
Hsu, "and yet we've had to turn down some drug studies for lack of
personnel. We have data that's just sitting there because we can't get the
time to put it out."
Adults, who now make up more than half the nation's sickle cell patients,
are particularly underrepresented in research on new treatment. "This is a
large population, whose care we have really studied very little," says Marilyn Telen, who directs the joint Duke-University of North Carolina sickle cell clinic in Durham, N.C. Adds Vichinsky: "These
are really the orphans of managed care."