For years, Sabrina, a loving wife and grandmother, endured persistent, unexplained neurological symptoms that disrupted her daily life, including hearing loss, severe headaches, vision changes and facial nerve pain. At one point, doctors feared she had cancer.
“I was the average 47-year-old, and I started feeling a fullness…nothing that was really all that concerning for me. But it just wouldn’t go away,” Sabrina tells BlackDoctor. “You know how, when you go swimming and you have water in your ear? That’s kind of what I felt like. And so I went to the doctor, and she said, ‘Let’s give you some antibiotics and steroids and see if that clears up.’ It did not.”
Sabrina underwent a CT scan of her neck, which revealed several large masses growing in her middle-ear cavity. She underwent surgery to have the masses biopsied.
The biopsy revealed what doctors believed was cancer.
“After the biopsy, it’s like my life went…downward. I had multiple hospitalizations. I developed Bell’s palsy,” she adds.
Despite everything happening to her body, Sabrina often felt relatively normal and learned to live with her symptoms.
“I just thought, ‘Oh, well, you know, it’s stress. Everybody has headaches,’ and I just thought that they were normal headaches,” she shares.
Despite undergoing brain surgery, two months of chemotherapy and numerous visits with specialists over three years, Sabrina was no closer to a diagnosis as her symptoms progressed.
It wasn’t until an extensive neurological workup, including a spinal tap, that Sabrina was ultimately diagnosed with IgG4-related disease (IgG4-RD), a rare, chronic, immune-mediated condition that can affect multiple organs and mimic other diseases, including cancer and other inflammatory or autoimmune conditions.
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Looking back, Sabrina can now see that some of her symptoms may have been connected to IgG4-RD long before she knew the disease existed.
“I did not have a clue that those headaches were related to IgG4-related disease or associated with that. I missed a symptom that presented about six months before the ear issues. I had pancreatitis. I don’t drink, and so that really threw me for a loop. We treated it, and I got over it without an issue,” Sabrina adds.
IgG4-RD can be particularly difficult to diagnose because it does not look the same in every patient. The disease can affect nearly any organ and may cause inflammation, enlargement or tumor-like masses. The pancreas, bile ducts, salivary and tear glands, kidneys, lungs, retroperitoneum, aorta and meninges—the protective layers surrounding the brain and spinal cord—are among the areas that can be affected.
That means one person may develop pancreatic problems while another experiences swelling around the eyes or salivary glands. Someone else may have kidney, lung or neurological involvement.
For Sabrina, the disease affects the meninges around her brain.
“When I look back now, I can see all of these pieces,” she says. “But at the time, I didn’t know that they were connected.”
After her biopsy, Sabrina had even more questions.
“The doctors refused to accept that this wasn’t cancer. He was like, ‘They didn’t see what I saw in the OR.’ So the pathology was sent off to several labs, and it continued to come back as an inflammatory process,” she explains.
“And, finally, he said, ‘These tumors keep growing back, and so we’re going to treat this really aggressively. Though we keep getting a non-cancerous diagnosis, we don’t know what it is, and so we’re going to treat you really aggressively.’”
The uncertainty understandably turned Sabrina’s life upside down.
She went from being happy-go-lucky to feeling miserable and consumed by questions about her mortality and what was actually happening inside her body.
Is this really cancer? Did they get it wrong? Am I going to die in three months?
“I might have died and not really know what’s going on with me,” she thought.
Although it took years for Sabrina to receive an accurate diagnosis, she credits her healthcare team for continuing to search for answers.
“They came up with several different diagnoses. None of them stuck,” she shares. “But this disease and the way that it presents, I can clearly understand why they thought, ‘Maybe it’s MS. Maybe it’s this, maybe it’s that, maybe it’s sarcoidosis.’”
Then she finally met the physician who recognized what was happening.
“To land in the hands of this physician and get that diagnosis within five minutes of me walking into that physician’s office, for him to say, ‘You absolutely have IgG4-related disease,’ was three years’ worth of weight lifted.”
Although IgG4-RD is rare, the condition can have a significant impact because it is a systemic disease, meaning it can affect multiple parts of the body.
IgG4-RD is an immune-mediated condition in which inflammation can cause swelling and, over time, fibrosis or scarring in affected tissues. Because the inflammation can create masses or enlarged organs, it can sometimes look like cancer on imaging or during surgery.
No single test can definitively diagnose IgG4-RD. Doctors generally consider a combination of a patient’s symptoms and medical history, blood tests, imaging and, in many cases, a biopsy and specialized examination of tissue. Even an elevated IgG4 level alone does not establish a diagnosis.
For patients, that can mean a long road to getting answers.
Sabrina knows that road well.
Although receiving a diagnosis brought enormous relief, Sabrina was immediately faced with another challenge: learning how to live with a disease she had never heard of.
“I didn’t even have a clue what this was. I mean, I’m in health care, so I know what IgG4 is, but I’ve never heard it being a disease,” she adds.
Immediately, she wondered how she was going to live with it, what her treatment options were and whether there was a cure.
“I soon found out there is no cure,” she notes.
She then wondered how she would be able to continue living her life, whether it would continue to be miserable and what her life expectancy would be.
Her doctor quickly reassured her that she wasn’t going to die simply because she had IgG4-related disease. But she also learned that leaving active disease untreated can allow inflammation and scarring to damage organs or affect important structures. Early recognition and treatment are important because some damage may become irreversible.
That news brought a sense of gratitude and relief, but Sabrina still had plenty of questions.
And she wasn’t going to sit in that uncertainty.
There is currently no cure for IgG4-RD, but it is considered highly treatable, particularly when it is recognized and treated before significant permanent organ damage occurs. The goals of treatment are to control inflammation, achieve remission, prevent additional organ damage and reduce the risk of future flares.
Treatment depends on which organs are affected, how active the disease is and a patient’s individual circumstances.
Corticosteroids such as prednisone have traditionally been the first-line treatment for active IgG4-RD. They can work quickly to reduce inflammation, but long-term steroid use can cause significant side effects, so physicians may gradually taper the medication and consider other approaches for longer-term disease control.
B-cell-targeted therapies are another important part of IgG4-RD treatment. Medications such as rituximab can reduce B cells involved in the immune response and may be used when steroids aren’t appropriate, when the disease returns or when a patient needs a steroid-sparing treatment. Inebilizumab, another B-cell-targeted therapy, is also an option being studied and used in IgG4-RD care.
Some patients may also receive other immune-modifying medications, depending on their disease and treatment needs. In certain situations, procedures such as stent placement may be necessary when inflammation or fibrosis blocks structures such as the bile ducts or ureters.
For someone like Sabrina, whose disease affects the nervous system, treatment and monitoring may require several specialists working together.
And that is exactly what her care looks like today.
“I’ve seen a number of specialists, and I’d like to think that the specialists who are involved in my care now have a better understanding of the disease because I’ve helped them to try to understand it better,” she adds.
“We have a great partnership. The other specialists that I see pretty much lean on me to say, ‘Okay, what do you think we should do?’ So I think that speaks volumes about how I’ve learned about the disease and how it manifests for me.”
Her flares can include intense headaches, visual changes, light sensitivity, seizures and cognitive changes.
“I live my life trying to extend the time in between flares. It doesn’t feel so great… It brings on seizures and a lot of cognitive effects, a lot of cognitive decline. So I try to do everything I can to keep the flares at bay for as long as possible,” Sabrina notes.
Because IgG4-RD can affect multiple organs, ongoing monitoring is important even when someone feels well. The American College of Rheumatology recommends close follow-up with healthcare providers who understand the condition and encourages patients to learn about the possible symptoms and complications associated with their particular organ involvement.
After her diagnosis, Sabrina began doing her own research.
She kept records, asked questions and learned as much as she could about how IgG4-RD affected her body. That knowledge has helped her feel more prepared when she walks into a doctor’s appointment.
Her care involves multiple specialists, and Sabrina believes that understanding her disease has allowed her to become a stronger partner in her own healthcare.
But she is careful about the difference between advocacy and practicing medicine.
“I say to patients, when I’m walking through advocacy with them—and my advocacy with them is kind of silent, I’m not telling them what they need to do. Certainly, that is the place of their physician or their care team—but I’m helping them with questions they may not think to ask,” she shares.
For Sabrina, that might mean encouraging someone to ask their doctor whether a particular test could be helpful or whether a symptom could be connected to their existing diagnosis.
She also understands how difficult it can be for patients to find a doctor who recognizes a rare disease.
“I just wish there was awareness in 2011, and I didn’t have to wait three years to get a diagnosis,” Sabrina explains. “I think that patients today certainly have the advantage of education and awareness and don’t have to go through that three-year period like I did and some others.”
For someone who has just received an IgG4-RD diagnosis, learning where to turn can make the disease feel less overwhelming.
The IgG4ward! Foundation offers patient and caregiver education, webinars, patient stories, downloadable guides, a physician network and information about clinical trials. Its IgG4ME! app is designed to help patients organize their medical history, appointments, treatments and other information in one place.
The organization also has educational resources covering treatment, neurological manifestations, identifying possible flares, caregiver support and other aspects of living with IgG4-RD.
The American College of Rheumatology also provides a patient-friendly overview of IgG4-RD, including information about symptoms, diagnosis, treatment and living with the disease.
Online resources can also provide education and help you prepare questions, but should not replace individualized medical advice from your healthcare team.
Sabrina’s experience has taught her that patients don’t have to be passive participants in their healthcare.
Sabrina isn’t finished with her journey. In fact, she sees herself as somewhere in the middle of it.
“I would say that I’m midway down the road now, and I look forward to continuing to use my voice in a way that helps to promote awareness of the disease,” she says.
For Sabrina, advocacy doesn’t have to look one particular way.
“However that can be—whether it’s an article, whether it’s holding someone’s hand at an infusion center, or whether it’s talking to someone who suspects that they may have the disease, whether it’s helping to make physicians more aware of treatment.”
That willingness to show up for other people is at the heart of Sabrina’s advocacy.
She remembers what it felt like to have questions and no answers. She remembers being afraid that she had cancer, wondering how much time she had left and waiting three years to finally understand what was happening inside her body.
Now, she wants other patients to know they don’t have to navigate that uncertainty alone.
Her message is simple: ask questions, learn your disease, build a healthcare team you trust and don’t be afraid to use your voice.
For Sabrina, the road forward isn’t about pretending that IgG4-RD is easy. It’s about knowing her body, recognizing her symptoms, staying connected to her care team and using everything she has learned to make the road a little easier for the person walking behind her.
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