Lupus: When the immune system becomes the enemy


When Jada first started experiencing a skin rash, she didn't think much of it. She was a healthy 23-year-old who enjoyed a typical twenty-something lifestyle—traveling, figuring out her career path and looking ahead to the future.

She saw a doctor who gave her a prescription for antibiotics, and she went back to everyday life. But the rash persisted. So she visited a dermatologist, who prescribed steroids and another round of antibiotics.

But the treatment still didn't do the trick. The next visit was to an immunologist who ran a slew of tests but never communicated the results back to Jada. Finally, five months after the onset of symptoms, her dermatologist raised the possibility of lupus. After reviewing the immunology tests, the doctor made the diagnosis official.

For Jada, it was a shock. "When my dermatologist said the word 'lupus,' I had a flood of thoughts like, 'My dad's not going to walk me down the aisle; I may not be able to have kids,'" she says. "I had been traveling the world five months prior, and suddenly, I was quote-unquote 'sick.'”

A difficult-to-diagnose disease with life-altering impact

Even though an estimated 1.5 million people in the U.S. live with lupus, it's not a well-understood disease1. Often, symptoms are ambiguous: unexplained fatigue, a fever or a skin rash. The condition can cause both cognitive issues and physical manifestations. It can be systemic, so it can impact multiple organs and parts of the body—the eyes and central nervous system (CNS), skin, lungs, heart, kidneys, joints and musculoskeletal systems. It can also cause photosensitivity, which means many people with lupus must take special care to avoid sun exposure.

Because the disease looks different from patient to patient, Jada's meandering diagnostic journey isn't unusual. "Diagnosing lupus can be very difficult," says Youmna Lahoud, M.D., an associate medical director of clinical development at Biogen, adding that it often takes years to pinpoint lupus as the cause of a constellation of symptoms.

Youmna, who specialized in rheumatology and ran a special clinic for lupus before joining Biogen, notes that symptoms typically appear in a patient's teen years or twenties. It affects women more frequently than men—around 90% of people with lupus are female—and it affects ethnic minorities at a disproportionate rate1.

An added complication to diagnosing lupus is that the process itself is complex. There's no simple, singular blood test to confirm the condition.

Analysis of the tests that do exist often requires a seasoned rheumatologist, and it can take up to six months to get an appointment with one.

Weihong Yang, M.D., also an associate medical director of clinical development at Biogen, adds that lupus has a broad spectrum of severity. "Some patients just have very mild cases, and some people contend with very severe manifestations in the kidneys or brain," she explains.

As physicians specialized in rheumatology, both Weihong and Youmna note that lupus is a delicate diagnosis to deliver—especially since many patients are so young. "They are not expecting to have to carry this burden from their teenage years for the rest of their lives," says Youmna.

The importance of self-advocacy

Lupus symptoms may appear together or crop up one by one at different stages. For Jada, what started as a skin condition evolved into a blend of brain fog, joint pain and fatigue. The disease has also affected her kidneys. At one point, her hair began falling out in clumps.

“Flares come and go and range in intensity. It's a big question mark," she says. "It might mean I don't get out of bed for two days."

One of the most important aspects of living with lupus, she's found, has been self-advocacy. "There are a lot of people out there who are pushed away because someone else doesn't believe their symptoms. I had to see like five doctors before someone believed me."

Ultimately, Jada did find a circle of doctors she trusts. After months of "doctor dating," being truly listened to was empowering. "Now, I have a circle of physicians that run from my primary to my rheumatologist, endocrinologist, cardiologist and dermatologist," she says.

Of course, doctors also have a responsibility to be advocates. "Lupus is a chronic condition, which means it will be with patients for the rest of their lives," says Youmna. "You have to show them that you'll be with them all along the way."

Weihong agrees that it is critical for doctors who specialize in lupus to build a strong patient/physician relationship. A trust develops when seeing a patient for a long time and being part of their lives, she explains. Being with patients through their lupus journeys comes with some rewarding moments as well. “Last year, we had a young lady deliver her third boy,” she says. "I tell every single one of my patients—it's your decision whether or not you want to keep me. It's not about whether or not I will keep you."

The quest to meet an unmet need

In her work at the lupus clinic, Youmna discovered a distressing cycle. "You can use all the tools you have—steroids, hydroxychloroquine, mycophenolate—but the patient may still not be in remission."  While some treatments work for some people, others may respond to the same care path minimally or not at all, she explains.

As of 2022, there are three FDA-approved treatments in the U.S. — but it took 50 years from the approval of the first treatment to the second.

For drug developers, the difficulties associated with diagnosing and treating lupus also make it challenging to develop new drugs to treat the disease. At Biogen, the approach to developing new drugs in general is rooted in looking for genetic evidence and human validation, and there is no exception for lupus. Having used immunology as a tool to approach neurological diseases, such as MS, the company is continuing to build its understanding of the immune system, not only for MS but also for lupus. Patient input is also a critical factor. "It's very important to bring the patient perspective into drug development," says Youmna. "They're the ones taking the drug, experiencing both potential benefits as well as side effects.”

Plus, she adds, patients and healthcare professionals often have different perspectives on managing lupus. "The clinician is going to score disease severity or activity based on, for example, how many joints are swollen. But the patient is going to say, 'Yes, but it hurts all over. I'm depressed and I'm tired.'"

Physicians with deep knowledge of the disease, like Weihong and Youmna, also have valuable insights to contribute. "What I can bring to the drug development is my clinical experience—day to day, how patients feel about their disease," says Weihong.

As difficult as living with lupus can be, there is still hope on the horizon. For Jada, living with lupus is just one part of her story. "It doesn't define who I am," she says, noting that she's still an avid traveler—as well as a baker, amateur chef and accomplished professional. "My goals and aspirations aren't diminished just because I have a chronic illness."

Over time, with a dedicated treatment team on her side, she's overcome the initial fears about her future. "I know that I can have the life I want and deserve," she says. "It's just going to take some extra steps—and some grace."

You may also be interested in


Amyotrophic Lateral Sclerosis

Noel's Story - Living With ALS



Living with lupus: Hazura’s story


Multiple Sclerosis

The hidden face of MS


Alzheimer's Disease

One day at a time: Kamaria’s story


Spinal Muscular Atrophy

Marci’s Story, SMA Diagnosis


Multiple Sclerosis

Mayu's Story, Challenges in MS