Imagine undergoing a series of imaging and pathology tests — and they find nothing. This is what happened to Donna Shipp, who endured MRIs, PET scans, Xrays, bloodwork, and even surgery before getting a diagnosis of IgG4-related disease (also known as IgG4-RD and IgG4-related system disease, or IgG4-RSD).
The chaos looming within Donna’s body was not visible — until a surgeon opened her up to remove her nonfunctioning kidney. He discovered that her peritoneal cavity was entangled with scar tissue.
“I had no symptoms of kidney failure,” explains Donna, noting that her creatine levels were trending high but were never flagged as out of range. “Creatine tells you how well your kidneys are functioning.”
Somehow, despite these radical changes, Donna continued to work 36-hour shifts as a nurse at Brigham and Women’s Hospital in Boston, MA. Being a nurse and working within a research field has made her both keenly aware of changes in her body, and yet, resistant to visit a doctor for minor changes.
A Surprising Finding Leads to Panic
Donna decided to see her nurse practitioner after experiencing upper gastric pain and suspecting gallstones. Surprisingly, her stomach and gallbladder were perfectly fine, yet the ultrasound report showed severe right hydronephrosis, which means the kidney was swollen and could not eliminate urine as it should.
Yet another ultrasound was ordered with the assumption of a kidney stone, but it turned out to be a blockage in the lower portion of the ureter. It was highly suspected for malignancy.
The urologist surgeon was unable to break through the blockage to get a biopsy so he sent Donna for a PET scan, which showed one small area that was glowing in her ureter. Donna muddled through the winter holidays thinking she had cancer. Her urologist presented her case to the tumor board and the consensus was to take it out. Donna’s kidney was not responding.
In May 2023, a surgeon removed Donna’s right kidney and her ureter, the tubes that connect the kidneys to the urinary bladder. “Up until that point, they weren’t convinced it wasn’t cancer,” says Donna. “I was in the hospital and I read my discharge papers. It said it was urothelial cancer. I was shattered.”
The surgeon was unable to remove the bottom third of her ureter because it was too entangled with fibrous tissue, leading to an unexpectedly complicated surgery. When he opened her up, the surgeon saw the source of the problem, but it was not what he expected.
Donna’s entire pelvic area back into her peritoneum was full of fibrous tissue. It was saturated with storiform fibrosis and plasmacytes, both hallmarks of IgG4-RD. Plasmacytes are specialized forms of B-lymphocytes that produce antibodies. They synthesize and secrete immunoglobulin. Her urologist suspected retroperitoneal fibrosis, meaning scar tissue develops and can cause chaos in the retroperitoneum, thereby affecting the ureter and kidneys.
Getting a Diagnosis
Donna was fortunate to receive a diagnosis within eight months, a significantly shorter timeframe than the years (or decades) many patients typically endure. Her ability to establish connections with doctors, stemming from her nursing background, played a crucial role in this expedited process.
There is currently not one diagnostic test that can determine if a patient has IgG4-RD, which made it critical for Donna to work with her doctors to examine findings from multiple vantage points, including results from clinical presentations, blood tests, and radiological imaging. With many variations of how the organs and tissues can be affected by IgG4-RD, the disease is challenging to diagnose.
The Anxiety of Not Knowing
Donna is currently on a six-week regimen of steroids, along with two rounds of Rituxin (rituximab). Between treatments, she waits, and then a few months later, undergoes more scans to look for changes. She repeats this cycle with the goal of remission. Keeping track of even the most minor symptoms is critical as she listens for changes within her body.
Understandably, Donna admits to having anxiety and fear about symptoms. “My greatest fear is not knowing what is happening in my body between treatments,” she says. “What if the scar tissue is strangling my appendix? What is it doing? What if it’s attacking my other kidney? Scanning me this year didn’t really show anything, so how will we know if something’s going on? I still worry about the disease process in the interim.”
Donna’s Tips for Advocating for Yourself
Here, she shares what she’s learned to help other patients get a quicker diagnosis and get started on treatment.
- Ask the questions. “Ask all of the questions,” she says. “No one knows your body better than you. When you aren’t satisfied with answers, keep asking questions. You shouldn’t know all the answers off the top of your head.”
- Challenge your doctors. “Your doctors could miss things too, so it’s okay to point things out [and] challenge them sometimes,” says Donna. “Have doctors explain it to you until you understand.”
- Become an expert. “When you get diagnosed with something, you should ultimately become the best specialist — the best expert — for yourself,” she says.
- Connect with other people with IgG4. Donna found support by connecting with an IgG4 Facebook group. “If I don’t see a post every couple of days, I’ll go online and see what people are going through. There are all these other aspects to IgG4-RSD and people have different symptoms, and yet we are all on the same or similar treatments. It’s crazy.”
- Don’t give up. “This is your life; this is your body. If you can’t find the answers you’re looking for, keep looking until someone listens to you and really hears you. Find the answers you need,” she says.
The Health Advocates
Listen to Niki C. Beamon share her 17-year journey toward an IgG4-RD diagnosis on the latest episode of The Health Advocates, a podcast that breaks down major health news of the week to help you make sense of it all. Listen now.
This article was made possible with support from Horizon Therapeutics.
