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Sponsored: The Long Road to a Rare Kidney Disease Diagnosis Empowered One Woman to Speak Up

Provided by Novartis

It took two years for Robin to find out that immunoglobulin A (IgA) nephropathy was the cause of her symptoms. Persistence helped lead her to the right diagnosis, but finding community and having an ongoing dialogue with her doctor are helping her manage her condition over the long term.

Credit: Ashton Rodgers

In June 2022, on the way home from the doctor’s office after being told she had a rare, chronic kidney disease, Robin and her adult son, who’d gone with her for support, had to pull over more than once to cry together. It was hard to process the news in real time, because of all the unknowns—about the future and how the disease would progress.

“My brain just kind of froze when I was given the diagnosis,” says Robin. “But now that I’ve had time to process it, speak with my doctor more, and figure things out, I realize that, yes, this is something that’s manageable.” Throughout her journey, Robin learned the importance of advocating for herself.

Robin has IgA nephropathy, also known as Berger’s disease, a chronic immune system disease that impairs the kidneys’ ability to filter waste in the blood.1,2 In healthy kidneys, tiny filters clean the blood and help remove waste products. In IgA nephropathy, a disease-fighting protein called immunoglobulin A (IgA) abnormally builds up in the kidneys, blocking the filters and causing damage.2,3 Early on, the disease may not cause obvious symptoms, but as the kidneys become more damaged, the appearance of the urine can start to change.2,4 Protein leakage into the urine, known as proteinuria, can make it appear foamy, and blood in the urine, known as hematuria, can make it appear darker.1,2,4

Other symptoms may include fatigue, high blood pressure, and swelling of the hands and feet due to fluid retention.2,5 There’s no cure for IgA nephropathy, but receiving a diagnosis and beginning management with your doctor early can help slow its progression before more kidney damage and, ultimately, kidney failure occur.2

A Diagnosis at Last—with Patience and Persistence

Robin first experienced symptoms in 2020. Initially, it was hard to determine whether something was going on because her symptoms were mild and didn’t point to any one cause. But when Robin experienced a rapid decline in her health, including fatigue and swelling, she knew something was wrong. “I had a hard time using my keyboard,” she says, “because the swelling of my hands made it difficult to type.”

Robin took action. She was persistent in visiting a number of specialists and voicing her symptoms in search of a diagnosis. It can often take longer to be diagnosed with a rare disease.6 In the case of IgA nephropathy, many people may go undiagnosed until they present symptoms of a more advanced kidney disease. Robin’s own search took nearly two years—but she was determined to find the right doctor who could identify the cause of her symptoms. “If you feel something isn’t right, speak with your doctor,” says Robin. “If you haven’t already, learn to advocate for yourself and for the care you deserve.” In 2022, she consulted a new team of specialists, who collaborated to give her a comprehensive series of tests. After results revealed high protein levels in her urine, her healthcare team suspected she may have an immune condition—IgA nephropathy—which was confirmed with a kidney biopsy.

Making Lifestyle Adjustments to Manage Symptoms

As Robin and her family learned more about IgA nephropathy and how it could be managed, she started to feel better. She learned that she was in the early stages, and although her condition may progress over time, there were some ways she could adjust her lifestyle to manage her symptoms.

Common strategies to manage IgA nephropathy may include dietary changes, fish oil supplementation, and medications to suppress the immune system or control blood pressure. It is important to always speak with your doctor before making a change to your lifestyle.1 “From discussions with my doctor,” says Robin, “I’ve learned to live without some things that research says could exacerbate the disease.” She adds that as she learned more about how to manage her IgA nephropathy, her outlook changed. In contrast to the anxiety and fear she felt initially, she began feeling more confident and hopeful about living with the disease over the long term.

Robin still experiences symptoms like fatigue, which can be hard for both her and her family at times. “It can be challenging, especially for my younger kids,” she says. But they’ve learned that her symptoms come and go and that some days are better than others.

Robin has learned that there’s much more to her life than what her lab results say—it’s just a matter of doing the best she can to manage symptoms, take care of herself mentally and physically, and lean on family and community when she needs to.

Credit: Ashton Rodgers

Finding Power in Speaking Up

If you’ve recently been diagnosed with a rare disease, Robin recommends being gentle on yourself and accepting support from loved ones. “It’s okay to be scared,” says Robin. “Give yourself time. When I first learned of my diagnosis, I thought I was alone, which is probably the most terrifying thing about a medical diagnosis, especially in the rare or underdiagnosed category.” She recommends finding a community, whether that’s family, neighbors, or, as Robin discovered, an online community of people living with IgA nephropathy.

And for those experiencing any health issues and waiting for a diagnosis, Robin recommends voicing your symptoms to your doctor and being persistent. It’s important to remember that progression may be slowed if diagnosed early—so speak up if you experience any unusual changes in your health, however small.2

Learn more about IgA nephropathy, including strategies for managing the disease and resources to help you advocate for yourself or your family member, at www.KidneyHope.com.

References

  1. National Kidney Foundation. IgA Nephropathy. Accessed January 26, 2023. https://www.kidney.org/atoz/content/iganeph
  2. National Institute of Diabetes and Digestive and Kidney Diseases. IgA Nephropathy. Accessed January 26, 2023. https://www.niddk.nih.gov/health-information/kidney-disease/iga-nephropathy
  3. Medjeral-Thomas NR, O'Shaughnessy MM. Complement In IgA Nephropathy: The Role Of Complement In The Pathogenesis, Diagnosis, And Future Management Of IgA Nephropathy. Adv Chronic Kidney Dis. 2020;27(2):111-119.
  4. Nolin L, Courteau M. Management Of IgA Nephropathy: Evidence-Based Recommendations. Kidney Int Suppl. 1999;70:S56-S62.14.
  5. Artom M, Moss-Morris R, Caskey F, Chilcot J. Fatigue In Advanced Kidney Disease. Kidney Int. 2014;86(3):497-505.
  6. RareDiseases.org. Barriers To Rare Disease Diagnosis, Care And Treatment In The US: A 30-Year Comparative Analysis. Accessed January 26, 2023. https://rarediseases.org/wp-content/uploads/2020/11/NRD-2088-Barriers-30-Yr-Survey-Report_FNL-2.pdf.

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