Authors: Donna Jackson Nakazawa
To underscore these numbers, consider: while 2.2 million women are living with breast cancer and 7.2 million women have coronary disease, an estimated 9.8 million women are afflicted with one of the seven more common autoimmune diseases: lupus, scleroderma, rheumatoid arthritis, multiple sclerosis, inflammatory bowel disease, Sjögren’s, or type 1 diabetes, almost all of which can lead to potentially fatal complications. Or, slice these statistics another way: while one in sixty-nine women below the age of fifty will be diagnosed with breast cancer, according to estimates, as many as one in nine women of childbearing years will be diagnosed with an autoimmune illness, which strike three times as many women as men—and most often strike patients in their prime. According to the National Institutes of Health, autoimmune disease affects far more patients than the 9 million Americans who have cancer and the 16 million with coronary disease.
“THE WESTERN DISEASE”: A RISING EPIDEMIC
Even as autoimmune diseases remain underrecognized and under-addressed, the number of patients afflicted with these illnesses has been steadily growing. Yet few of today’s practicing physicians are aware of the escalating tsunami of epidemiological evidence that now concerns top scientists at every major research institute around the world: evidence that autoimmune diseases such as lupus, MS, scleroderma, and many others are on the rise and have been for the past four decades in industrialized countries around the world:
As with all epidemiological research, it can be more art than science to tease out what percentage of these rising rates is the result of more people being diagnosed with a disease because physicians are more aware of it, versus the increase from a genuine rise in the number of people falling ill. Yet the researchers behind these epidemiological studies hold that something more than an improved ability among doctors to diagnose autoimmune diseases is driving these numbers upward.
Norwegian epidemiologists, for instance, argue that rising rates are “due to a real biological change of the disease” rather than being caused solely by better diagnostics and are concerned by the higher occurrence of autoimmunity in urban than in rural areas. Swedish and German researchers concur that enhanced diagnostics alone cannot explain today’s significant increases in MS. Type 1 diabetes researchers insist that today’s rapid rise in this disease cannot be explained by either better diagnostics or by more people suddenly becoming genetically susceptible to type 1 diabetes; rather, a change in environmental factors is the “more plausible explanation.” At the Mayo Clinic researchers are beginning to ask if rising rates of lupus are the result of an increased exposure to environmental triggers of some unknown origin. Because autoimmune disease is spreading in almost every industrialized nation, scientists the world over have dubbed it “the Western disease.”
A GROWING AUTOIMMUNE PATIENT LOAD
While epidemiological studies provide a global portrait of an autoimmune-disease crisis in the making, it is through patients’ eyes that it takes on more personal meaning. And nowhere is this more evident than at the offices of Dr. Michelle Petri, clinical director of the Johns Hopkins Lupus Center, at the Johns Hopkins Outpatient Center in downtown Baltimore, Maryland. Dr. Petri is a heavy hitter in the field of rheumatology and a nationally known speaker on lupus. Many of the people she treats have waited months for an appointment in order to confirm a diagnosis or gain better treatment for such rheumatic autoimmune diseases as lupus and antiphospholipid syndrome. Some of them are local residents who live merely a few blocks away from her office, while other patients fly thousands of miles to see her.
On one recent Thursday evening, Dr. Petri has just finished seeing the last of her forty patients for the day. Outside the glass-paneled hallways that stretch along the clinic’s waiting area, the afternoon light has long disappeared into the bank of gray clouds that seem to settle at dusk over this downtrodden part of Baltimore. But Petri shows no signs of flagging. A small powerhouse of a woman, Petri’s freckled, youthful face and boyish cropped hair contrast with strands of newly appearing gray and gold-framed glasses that hint at years spent bent over medical texts, papers, and lab work. She pushes her glasses up as she peers down at her watch, noting with little surprise that she has clocked another thirteen-hour stint between patients, paperwork, and rounds. Petri missed the first of several of our telephone interviews, scheduled to take place at eight-thirty p.m. one night, because she’d been working such late hours she hadn’t been home long enough to realize that her phone was out of order.
Over the course of her thirty-year career, Petri has witnessed a dramatic rise in patients with lupus. In the 1960s there were only 150 to 200 lupus patients registered in the Hopkins Rheumatology Clinics. Today, there are 1,700 lupus patients registered from the immediate neighborhood alone. “The population in Baltimore is going down, and yet the number of people coming to our clinic from Baltimore with autoimmune disease is going up,” she says. In an administrative building nearby sits the lupus clinic records room. In the twenty-by-twenty-foot space loom four walls of filing cabinets—enough to easily fill up the four walls in your local 7-Eleven—packed with patient files that, twenty years ago, would have fit neatly into a few metal drawers. Although Petri has no way of conducting formal epidemiologic research through her clinic, the continued rise in the percent of patients afflicted in her own small urban area is, she says, a “very disturbing” sign.
Certainly, some of the increase that Petri and other clinicians are seeing in lupus is due to the improved treatment many patients receive through kidney dialysis and transplants, which help them live longer (the longer patients survive, the larger the overall patient number). And the skill with which physicians diagnose lupus has improved somewhat in many large metropolitan hospital centers. However, this increase in lupus “is so enormous,” says Petri, part of it can only be explained by an increase in the incidence of lupus itself.
Petri’s emphatic tone reveals her concern for her patients’ well-being as well as her frustration over how little physicians understand about why so many people’s immune systems are attacking their own healthy tissue. In hopes of helping other doctors catch autoimmune disease earlier in their patients, before irreversible tissue damage has already occurred, Petri spearheads an international task force to rewrite the symptom list and lab criteria for diagnosing lupus.
The fact that so many front-line practitioners are ill trained in how to diagnose these diseases can result in patients facing costly delays—both physically and emotionally—in getting the help they need. As Dr. Ahmet Hoke, associate professor of neurology and neuroscience at Johns Hopkins Medical Institutions and a colleague of Petri’s who treats numerous patients with autoimmune neurological disorders, explains, “Most of the autoimmune patients we see here have already been to several doctors and often they’ve been struggling for diagnoses for years. We see those patients who slip through their doctors’ diagnostic fingers.”
PATIENTS ON THE SIDELINES
Patients like Jan often feel they pay a high price for the fact that so many doctors remain ignorant of the autoimmune-disease epidemic. “I saw a total of six doctors before I got the diagnosis of APS,” Jan says. “And yet relatively speaking I consider myself lucky. I was diagnosed within months of becoming ill. It takes most patients with autoimmune disease years to find a doctor who has enough faith in them to really listen to what they’re experiencing.” Even then, as we shall see in subsequent chapters of this book, few doctors are well versed in piecing together the moving-target symptoms and in interpreting the complex biomarkers in lab tests that are necessary to accurately diagnose autoimmunity.
Jan pauses as we talk over tea at her kitchen table, the three dogs that she and David have rescued over the past decade settled on the floor around her. As we talk, she glances out the window past the cacti garden she and David have painstakingly planted. For a moment, her short, sandy curls catch sparks of sun reflecting off a truck traversing the dirt road in front of her New Mexico home, and her expression shifts from that of an incredulous patient to steely physician. “The time devoted to autoimmune diseases in medical education is dismally small,” she says. “I learned more about syphilis than autoimmune diseases in medical school, and in the twenty years since not much has changed for med students. The sad thing is that there is a huge number of patients out there who are completely off the radar screen of most docs.”
For years, one of these patients was Kathleen Arntsen, a forty-four-year-old sales professional from Verona, New York. After five years of searching for a diagnosis for what would turn out later to be myasthenia gravis, a disease in which sufferers develop severe muscle fatigue and disabling weakness, Kathleen was told by a doctor she’d been to eight times, “We’ve given you every test known to man
except
for an autopsy. Would you like one of those too?” For half a decade, she says, “I was treated like an absolute fruitcake. No one could tell me what was wrong with me, much less treat me.”
Arntsen’s story is not unusual. The average patient with autoimmune disease sees six doctors before attaining a correct diagnosis. Recent surveys conducted by the American Autoimmune Related Diseases Association reveal that 45 percent of patients with autoimmune diseases have been labeled hypochondriacs in the earliest stages of their illnesses. Some of this, no doubt, has to do with the fact that 75 percent to 80 percent of autoimmune disease sufferers are women, who are more easily dismissed by the medical establishment when hard-to-diagnose symptoms arise. In half of all cases, women with autoimmune disease are told there is nothing wrong with them for an average of five years before receiving diagnosis and treatment. Patients—most especially women—are often left feeling both confused and marginalized, or worse, labeled as psychosomatic malingerers.
Arntsen was fortunate to find her way eventually to Johns Hopkins University’s neuromuscular clinic and later to Michelle Petri for confirmation, consultation, and validation regarding her polyautoimmune disorders, which include lupus, Sjögrens, Graves’ thyroid disease, APS, psoriasis, Raynaud’s disease, and myasthenia gravis. Yet despite having an accurate set of diagnoses, Arntsen’s autoimmune illnesses have forced her to give up almost everything she once equated with normal life in order to preserve the stamina to get through each day. Once a healthy young woman on a full scholarship to Colgate University, where she was captain of the women’s rugby team, Arntsen now has to stop and pick up each knee as she goes up the stairs. “I coexist,” she says, “with bone-gnawing pain.” For years, her long flame of red hair, which once reached her tailbone, turned scarce and thin, the fallout of her autoimmune thyroiditis, coupled with drug side effects. In the past decade she has spent almost a year and a half in the hospital during her most severe lupus flares. Although she is carefully monitored, there is little the medical establishment can offer Kathleen for her lupus and myasthenia gravis other than steroids, a healthy diet, and boatloads of rest—especially since no new U.S. Food and Drug Administration–approved drugs have been developed for lupus in more than forty years.
Kathleen’s debility and exhaustion, which have taken a permanent toll on her life and career, will never go away. A top-performing sales rep for an insurance company while in her thirties, Arntsen, who used to run three miles a day, now lives on Social Security disability—which, she says ruefully, allows time for “my new full-time job—seeing specialists.” She gets going each day by around noon and spends what stamina she has left volunteering at the Lupus Foundation of Mid and Northern New York, which has become her “baby,” although it can hardly begin to make up for the fact that “the chance to be a mother has been stolen from me.” The best Kathleen and her husband of fifteen years can hope for is that with the careful monitoring of diet, stress, and sleep, she will have more good days than bad.
To look at Kathleen, however, you would never guess what she has been through or what she faces each morning at the start of her day. Like many people who suffer from autoimmune diseases, Kathleen’s symptoms remain largely invisible. And as was the case with cancer several decades ago, those who have the disease tend not to talk about it.