Ruth Wilson’s Six-Year Struggle with Misdiagnosed Lupus

For six long years, Ruth Wilson visited doctor after doctor, each one misdiagnosing or dismissing her concerning symptoms: rashes, swelling, fever, and excruciating pain. It was only after pleading for yet another test in an emergency room, which was ready to send her home without answers once again, that she finally caught a break.

The test revealed something alarming—her kidneys were failing. The underlying issue? Her own immune system had been attacking her body all along, and somehow, no one had noticed.

“I just wish there was a better way for patients to get diagnosed without having to endure so much pain and dismissiveness,” she expressed candidly.

Wilson has been diagnosed with lupus, often referred to as the disease of a thousand faces due to its wide-ranging symptoms. Her experience highlights the darker aspects of an immune system that, instead of protecting her, turned against her. Lupus is one among many autoimmune diseases, affecting around 50 million Americans and countless more worldwide. These conditions are complex, difficult to treat, and continue to elude comprehensive understanding in the medical community.

Currently, researchers are utilizing insights from cancer studies and responses to the COVID-19 pandemic to delve into the biology of autoimmune illnesses. They’re uncovering pathways linking various diseases and aiming to tackle their root causes rather than merely addressing symptoms.

This is no simple endeavor. Autoimmune diseases can manifest in numerous ways: they might damage nerves in the case of multiple sclerosis, cause joint inflammation in rheumatoid arthritis, or lead to dryness in Sjögren’s syndrome. Lupus, for instance, can wreak havoc throughout the entire body.

The National Institutes of Health has identified 140 different autoimmune conditions, many of which remain relatively rare but collectively represent a major, often unseen cause of chronic illness.

Wilson, now 43, noted how frustrating it can be for others to gauge the severity of her illness. “You look normal. People see you, and they don’t think you have this horrible disease,” she remarked. Despite her condition, she dedicates time to educating both the general public and healthcare providers about living with lupus.

There is still much to learn, but some researchers are hopeful that innovative approaches may bring us closer to preventing or treating these diseases. In clinical trials, scientists are working to harness patients’ own immune cells to eliminate the rogue cells fueling diseases like lupus. This therapy, known as CAR-T, has shown some promising early results. Remarkably, a lupus patient in Germany treated with this method has remained free from drugs and symptoms since March 2021.

Another drug, teplizumab, has shown the capability to postpone the onset of Type 1 diabetes in individuals who are predisposed. The NIH is advocating for further research along similar lines, recognizing the potential for early interventions.

“This might be the most promising time we’ve ever had regarding autoimmune issues,” stated Dr. Amit Saxena, a rheumatologist at NYU Langone Health.

Your immune system uses various mechanisms to detect and attack harmful bacteria, viruses, or other agents. Teaching essential cells—like T cells and B cells—to recognize foreign substances is a critical part of this process.

But it’s a delicate balance. Sometimes, germs can mimic human molecules and evade an immune response. When the system goes awry, autoimmune diseases can take hold.

Genetics play a role, too. Certain genes related to immune functions can predispose individuals to these diseases, meaning if one family member is affected, others may also be at risk. However, genetic predisposition isn’t everything; environmental triggers—like infections or pollutants—can be significant factors. In the case of lupus, even something like a severe sunburn can act as a catalyst.

“At some point, the immune system may reach a tipping point, saying, ‘I can’t handle any more of this,’” explained Dr. Mariana Kaplan, leading research at the NIH.

Interestingly, autoimmune diseases tend to disproportionately affect women. For instance, women make up 90% of lupus cases, often impacting young women like Wilson.

In her 20s, Wilson started experiencing fainting spells and widespread rashes, symptoms that intensified during her pregnancies. She visited various doctors for her fevers, swelling, and joint pain until that pivotal ER trip when she asked for a urine test, leading to her diagnosis.

After several months of intense treatment that saved her kidneys, she still grapples with daily lupus-related pain over a decade later. Deep fatigue and mental fog—challenges in concentrating and retaining short-term memory—come and go unpredictably.

Fortunately, therapies for lupus have evolved. Wilson receives targeted monthly IV treatments and takes about six medications daily to help manage her hyperactive immune response.

However, she faces the dreaded flares, when symptoms worsen drastically, bringing with them high fevers and swollen legs that make movement difficult. These flares not only disrupt her work at a medical lab but also her time with her family, which includes her husband, teenage son, and college-age daughter.

To cope, she tells herself, “It’s not a bad life, just a bad day.”

Kaplan attributes some of Wilson’s ongoing struggles to constant inflammation due to proteins that can linger in the body, similar to how one might feel during a cold.

Dr. Justin Kwong, a research fellow in Kaplan’s lab, is exploring neutrophils—common white blood cells that respond to injuries and infections. He’s investigating their role in autoimmune diseases, particularly how they behave abnormally in patients with lupus.

These neutrophils can create traps that capture pathogens, but in autoimmune conditions, excessive trapping may lead immune defences to mistakenly view the debris as foreign, initiating a problematic cascade.

“We think this could be a fundamental initial process,” he said. “Our research aims to discover why this happens, especially in women, and whether we can find ways to mitigate it without compromising our immune defenses.”

Patients with autoimmune diseases often experience cardiovascular issues much earlier than expected. Kaplan’s investigations suggest that these neutrophils could play a role in damaging blood vessels, contributing to conditions typically seen in older individuals.

Unfortunately, neutrophils have a short lifespan outside the body, making it difficult to understand what goes wrong in mature cells. That said, Kwong’s research may shine light on these early-stage neutrophils in laboratory conditions.

Wilson is acutely aware of how important it is to share her experiences. Initially, she hesitated to discuss her illness, wanting to protect her children from worry. Now, she engages actively with others and encourages a deeper understanding of lupus.

At a meetup with her online support group, she felt a mix of nerves and excitement as she connected with others who understood her challenges. They shared personal symptoms and frustrations, including the well-meaning but misguided advice from some loved ones.

A month later, she attended a meeting in Washington where she urged researchers to pay attention to how treatments impact the daily lives of patients—like how new therapies affect cognitive function, not just physical symptoms.

While much remains unknown, Wilson continues to contribute to lupus research as part of the Lupus Landmark Study. By providing blood samples during flares, she hopes to help advance the understanding of the disease.

“It’s important for me to be a voice for patients,” she reflected. “In the beginning, I felt so isolated. I wanted to appear strong for my kids, so I’d put on makeup and a brave face.”