NephCure Champion Spotlight: Lindsey Fuller August 29, 2023 by Kylie Karley Lindsey Fuller has a rare form of hereditary C3GN. Her grandfather died of kidney failure, and father had four kidney transplants over the course of 20 years. Lindsey began showing symptoms as a child, but unfortunately C3GN wasn’t recognized at that time. She was even assured that a hereditary kidney disease was very unlikely. In 2007, at age 25, Lindsey was misdiagnosed with lupus. Her rheumatologist requested a kidney biopsy to help confirm the diagnosis. The biopsy diagnosed post-infectious glomerulonephritis. This diagnosis didn’t make sense with her history or current symptoms, but no physicians seemed to have answers about what was happening. C3GN was still not recognized at that time. Although Lindsey’s kidney symptoms had been mild and mostly stable all her life, she learned in 2013, at age 32, that she was suddenly losing a significant amount of kidney function. About a month later, her 9-year-old son was discovered to have blood and protein in his urine during a physical exam. Lindsey decided to have her original kidney biopsy re-evaluated and was then diagnosed with C3GN. Genetic testing revealed a novel mutation, which was then found in other affected family members, including her son. Lindsey spent the next year and a half researching, learning about her disease, and finding experts to consult. She was eventually able to convince her doctors to try eculizumab therapy in hopes that it would slow her disease progression. By this time, she had stage 4 CKD and felt this was the only viable option for preserving function in her native kidneys. While her doctors agreed eculizumab was her best option, it took 6 months of fights and appeals with her insurance company to get approval for the medication. She had her first treatment in November of 2015. For the next several years, she traveled 3 hours away every other week to receive this treatment. Eculizumab was extremely successful for Lindsey in improving her kidney function and stabilizing her symptoms, and she remained on this drug for several years. Unfortunately, her underlying disease was still active, and eventually the drug started to become less effective. By the spring of 2022, she had begun to lose kidney function again, and began considering other alternatives for treatment. In August 2022, she stopped the eculizumab therapy in hopes of completing a 6-month washout period and qualifying for a clinical trial. She began the trial screening process in February 2023, and if she is able to successfully qualify, she hopes a new drug might stabilize her kidney function until more treatment options are available for C3GN. Lindsey is an active member of the C3GN patient community, and advocates for access to equitable and optimal care, patient centered drug development, and better awareness among physicians of rare kidney diseases and the needs of these patients.
Zainab O says September 6, 2023 at 9:15 am Would love to have Lindsay talk about her experience with the University of Chicago kidney Club. We are a club advicating for awarenes on kidney disease. We are looking into November dates?
Anatole Besaran MD says September 6, 2023 at 12:01 pm We knew about one pattern of C3GV in my fellowship 50 years ago. It was the dense deposit form .IT took several more years to parse out the 2 forms, The two major subgroups of C3 glomerulopathy are dense deposit disease (DDD) and C3 glomerulonephritis (C3GN) . The two do have some overlapping features since they are manifestations of the same pathophysiology, abnormal complement activation. I am surprised that at age 25, just 16 years ago and with her family history that C3GN was not considered at all. I do not accept that with no Hx of a previous strep throat and appropriate lag period for manifestations to appear that a pathologist made a diagnosis of poststreptococcal. GN. sounds like someone forgot to put some Hx into the request for biopsy so maybe the pathologist was flying “blind”. I can’t excuse t the Nephrologist. . We may not have had the drugs we have now, but we did have some treatments. No disease-specific treatments are available, even now. We did have immunosuppressive agents that helped control the disease, at least for a while. If the she had had the right diagnosis to begin with, she could have been enrolled in one of the studies using blockers of the terminal complement pathway and preserved her kidney function longer. patients Unfortunately, no treatment is universally effective or curative. The fact is that we do have some data on renal transplantation which points to a high risk of disease recurrence (both DDD and C3GN) in allograft recipients, ie the clinical course followed by her father. . Clinical trials are underway to test the efficacy of several first-generation drugs that target the alternative complement pathway. Id these are effective, they may alter transplant success if started with tranplantation but that remains to be proven.
Anatole Besaran MD says September 6, 2023 at 12:03 pm Pardon my mistyping. I have macular degeneration.