\u201cI just wish there was a better way that patients could get that diagnosis without having to go through all of the pain and all of, like, the dismissiveness and the gaslighting,\u201d she said.<\/p>\n
Wilson has lupus, nicknamed the disease of 1,000 faces for its variety of symptoms \u2014 and her journey offers a snapshot of the dark side of the immune system. Lupus is one of a rogues\u2019 gallery of autoimmune diseases<\/a> that affect as many as 50 million Americans and millions more worldwide \u2013 hard to treat, on the rise and one of medicine\u2019s biggest mysteries.<\/p>\n Now, building on discoveries from cancer research and the COVID-19 pandemic, scientists are decoding the biology behind these debilitating illnesses. They\u2019re uncovering pathways that lead to different autoimmune diseases and connections between seemingly unrelated ones \u2013 in hopes of attacking the causes, not just the symptoms.<\/p>\n It\u2019s a daunting task. That friendly fire ravages nerves in multiple sclerosis<\/a>, inflames joints in rheumatoid arthritis, dries out the eyes and mouth in Sj\u00f6gren\u2019s disease, destroys insulin production in Type 1 diabetes<\/a>, weakens muscles in myositis and myasthenia gravis<\/a> \u2014 and in lupus<\/a>, it can cause body-wide havoc.<\/p>\n The list goes on: A new count from the National Institutes of Health tallied 140 autoimmune conditions, many rare but altogether a leading cause of chronic disease that\u2019s often invisible.<\/p>\n \u201cYou look normal. People see you and they don\u2019t think you have this horrible disease,\u201d said Wilson, 43, who balances her illness with volunteering to help educate the public and even doctors about life with lupus.<\/p>\n <\/p>\n Ruth Wilson, whose lupus took six years to diagnose, receives her monthly lupus-focused IV treatment at UMass Memorial Medical Center, Jan. 14, 2025, in Worcester, Mass. (AP Photo\/David Goldman)<\/p>\n Ruth Wilson, whose lupus took six years to diagnose, receives her monthly lupus-focused IV treatment at UMass Memorial Medical Center, Jan. 14, 2025, in Worcester, Mass. (AP Photo\/David Goldman)<\/p>\n Read More<\/p>\n While there\u2019s still an enormous amount to learn, recent steps have some specialists daring to wonder if just maybe, ways to cure or prevent at least some of these diseases are getting closer.<\/p>\n In dozens of clinical trials, scientists are harnessing some of patients\u2019 own immune cells to wipe out wayward ones that fuel lupus and a growing list of other diseases. It\u2019s called CAR-T therapy and early results with these \u201cliving drugs\u201d are promising. The first lupus patient was treated in Germany in March 2021 and remains in drug-free remission, the researchers said last month.<\/p>\n And a drug named teplizumab can delay the start of Type 1 diabetes symptoms in people destined to get sick, buying some time before they\u2019ll need insulin. Citing that \u201ctantalizing evidence,\u201d the NIH\u2019s new five-year plan for autoimmune research \u2014 if it gets funded \u2014 urges pursuing similar windows to intervene in other simmering diseases.<\/p>\n \u201cThis is probably the most exciting time that we\u2019ve ever had to be in autoimmunity,\u201d said Dr. Amit Saxena, a rheumatologist at NYU Langone Health.<\/p>\n Inside job<\/p>\n <\/p>\n A tattoo reading \u201cNever Stop Fighting\u201d decorates the arm of Ruth Wilson, as she receives her monthly lupus-focused IV treatment at UMass Memorial Medical Center, Jan. 14, 2025, in Worcester, Mass. (AP Photo\/David Goldman)<\/p>\n A tattoo reading \u201cNever Stop Fighting\u201d decorates the arm of Ruth Wilson, as she receives her monthly lupus-focused IV treatment at UMass Memorial Medical Center, Jan. 14, 2025, in Worcester, Mass. (AP Photo\/David Goldman)<\/p>\n Read More<\/p>\n Your immune system has multiple overlapping ways to detect and attack bacteria, viruses or other bad actors. That includes teaching key soldiers — T cells and antibody-producing B cells \u2014 how to distinguish what\u2019s foreign from what\u2019s \u201cyou.\u201d<\/p>\n It\u2019s a delicate balancing act, especially considering germs sometimes adapt features similar to human molecules so they can confuse and sneak past immune defenses. And while the immune system has built-in safeguards to curtail any misbehaving cells, autoimmune diseases set in when the system gets off-kilter.<\/p>\n Numerous genes involved in different immune functions can make people susceptible to common autoimmune diseases. That means if one family member is sick, others may be at increased risk. Such genes can include variants that once protected our ancestors<\/a> from long-ago threats including the Black Death<\/a> but that today can translate into a hyperactive immune system.<\/p>\n But \u201cgenes are not everything,\u201d said Dr. Mariana Kaplan of NIH\u2019s National Institute of Arthritis and Musculoskeletal and Skin Diseases.<\/p>\n Studies show if one identical twin develops an autoimmune disease, the other isn\u2019t guaranteed to get sick. Non-genetic factors that trigger an immune response play a big role, such as infections, certain medicines, smoking, pollutants. In lupus, even a bad sunburn is suspect.<\/p>\n \u201cAt some point there is a second or third hit and the immune system says, \u2018That\u2019s it, I can\u2019t handle any more of these insults,\u2019\u201d said Kaplan, who directs systemic autoimmunity research.<\/p>\n And women are more likely to get autoimmune diseases than men, maybe because of estrogen or their extra X chromosome. That\u2019s especially evident in lupus; women account for 90% of cases, often young ones like Wilson.<\/p>\n <\/p>\n Ruth Wilson, who has lupus, takes a nap after the onset of a migraine and fatigue, as too much sunshine is one of her triggers, while at the beach with family, Aug. 16, 2025, in South Yarmouth, Mass. (AP Photo\/David Goldman)<\/p>\n Ruth Wilson, who has lupus, takes a nap after the onset of a migraine and fatigue, as too much sunshine is one of her triggers, while at the beach with family, Aug. 16, 2025, in South Yarmouth, Mass. (AP Photo\/David Goldman)<\/p>\n Read More<\/p>\n Fainting spells and body-wide rashes began in her 20s and intensified with two pregnancies. Youngsters in tow, she saw a variety of doctors for fevers, swelling, joint and back pain until that fateful ER visit when she requested a urine test.<\/p>\n Months of grueling treatment saved her kidneys. But over a decade later, the Littleton, Massachusetts, woman still lives with daily pain from lupus. Deep fatigue and brain fog \u2014 difficulty with concentrating, short-term recall, multitasking \u2014 wax and wane.<\/p>\n Therapies have improved in recent years, from high-dose steroids and drugs that broadly suppress the immune system to include additional options that focus on specific molecules. Wilson gets a monthly lupus-targeted IV treatment and takes about six daily medicines to calm her overactive immune system and related symptoms.<\/p>\n Worse are what are called flares, when symptoms abruptly and markedly worsen. For Wilson, they bring sudden high fevers, legs too swollen to walk, more intense pain, lasting days to a week. They impact her job at a medical lab and time with her husband, teen son and college-age daughter.<\/p>\n \u201cIt\u2019s not a bad life, it\u2019s just a bad day,\u201d she tells herself to get through.<\/p>\n Kaplan, the NIH scientist, has a biological explanation for the daily slog: The same inflammatory proteins that cause aches and fatigue during a cold or flu continually course through the bodies of patients with systemic autoimmune diseases like lupus.<\/p>\n Hunting the root causes<\/p>\n \u201cThese are my babies,\u201d said Dr. Justin Kwong, a research fellow in Kaplan\u2019s lab at NIH, as he carefully examines cells in an incubator.<\/p>\n Kwong is performing something so tricky it\u2019s not done in many laboratories: He\u2019s growing batches of neutrophils, the body\u2019s most common white blood cells.<\/p>\n They are first responders that race to the site of an injury or infection, and Kaplan suspects they\u2019re among the earliest immune cells to run amok and trigger certain autoimmune diseases.<\/p>\n How? Some types of neutrophils spew out their insides to form sticky spider-web like structures that trap and kill germs. The neutrophils die in the process.<\/p>\n But patients with lupus and some other diseases harbor abnormal neutrophils that form too many webs, Kaplan said. Her team is investigating if other immune defenses mistakenly sense the resulting debris as foreign, sparking a chain reaction.<\/p>\n \u201cWe think that\u2019s a fundamental initial process,\u201d Kaplan said. \u201cWe\u2019re trying to find why it happens, why it happens more often in women, and can we come up with strategies to stop this without harming the way we defend ourselves from infections.\u201d<\/p>\n Another common feature: Patients with a number of autoimmune diseases, especially women, often suffer heart attacks and strokes at unusually young ages. Kaplan\u2019s research suggests those aptly named NETS, or neutrophil extracellular traps, may be key \u2014 by damaging blood vessels and spurring hardened arteries typically seen in older people.<\/p>\n But neutrophils don\u2019t live long outside the body and testing mature ones from lupus patients\u2019 blood won\u2019t show how they went awry \u2014 something Kwong\u2019s baby neutrophils may aid.<\/p>\n Teasing apart patient differences<\/p>\n <\/p>\n Ruth Wilson looks for a parking spot as she arrives for her monthly lupus-focused IV treatment at UMass Memorial Medical Center, Jan. 14, 2025, in Worcester, Mass. (AP Photo\/David Goldman)<\/p>\n Ruth Wilson looks for a parking spot as she arrives for her monthly lupus-focused IV treatment at UMass Memorial Medical Center, Jan. 14, 2025, in Worcester, Mass. (AP Photo\/David Goldman)<\/p>\n Read More<\/p>\n Whatever triggers it, lupus has bafflingly varied symptoms and treatments that can keep some patients symptom-free but not others.<\/p>\n That suggests \u201clupus is not a single disease,\u201d Kaplan said. \u201cWhat we call lupus probably represents many different conditions that have some common factors.\u201d<\/p>\n How to subtype lupus isn\u2019t clear. But another disease, rheumatoid arthritis, may offer clues. Perhaps best recognized by painfully disfigured fingers, RA can attack any joint and even some organs, sometimes scarring lungs.<\/p>\n Like with lupus, RA treatment is trial-and-error and scientists are exploring different underlying factors to explain why. In one study, an international team used tiny samples of patients\u2019 joint tissue to identify six inflammatory subtypes of RA based on patterns of cells, how they clustered and their activity.<\/p>\n It \u201cchanged how we think about the disease,\u201d said Northwestern University rheumatology chief Harris Perlman, one of the coauthors. Now researchers are comparing cells in joint tissue before and after patients start a new drug to see if they could help guide treatment choices, he said.<\/p>\n Living with lupus<\/p>\n<\/p>\n
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