By Lindsey Fuller, as told to Denise Mann, MS
I felt relieved when I was diagnosed with complement 3 glomerulopathy 12 years ago.
I was 33 at the time and had gone undiagnosed or misdiagnosed since I was 10 or 11 years old. I have since learned that this is fairly common among people who have complement 3 glomerulopathy (C3G), an extremely rare and progressive kidney disease. It was a long and complicated road for me, so by the time I finally had a name for my condition, I finally had some hope.
My Rocky Road to Diagnosis
C3G disease tends to start slowly and can remain silent for years before it causes real problems. I’ve had blood and protein in my urine for as far back as I can remember. Every time I gave a urine sample at a doctor’s visit, there was blood and protein in it without fail.
No one was all that concerned about this, but my doctors monitored my kidney function just to be on the safe side. It was always normal, so everyone thought I was and would be fine.
Looking back, I was also sick frequently with lots of infections. Now, I know that this is because C3G is caused by defects in a group of proteins in the immune system called complements, which affected my body's ability to ward off illness.
The first real plot twist came when I got pregnant at age 23. There was more protein and more blood in my urine, and my blood pressure was hard to control. I also had severe anemia — abnormally low numbers of red blood cells. All of these things were highly concerning because I was pregnant. Testing showed that I lost some kidney function, too. The good news is that my son was born healthy at full term, and I stabilized soon after his birth.
It wasn’t over though. New symptoms started popping up over the next few years, including joint pain and fatigue, which made it very hard to take care of my young son. I saw a rheumatologist who thought that I had lupus, an autoimmune condition where your body misfires against its own tissues and organs.
After a couple of years, my doctor decided to do a kidney biopsy. The biopsy pointed to post-inflammatory glomerulonephritis. That also turned out to be wrong. At the time, no one knew anything about C3G, so it wasn't on my doctor's or anyone’s radar.
The Puzzle Pieces Finally Come Together
Fast-forward a few years, and I went for my yearly kidney appointment with my nephrologist. He ran some tests, which showed that I had lost a significant amount of kidney function. Around the same time, my son's pediatrician found blood and protein in his urine.
We have a very strong family history of kidney disease, so the puzzle pieces finally started coming together. My dad had a kidney transplant at the Mayo Clinic in Rochester, Minn., and my cousin was treated there for kidney failure. I made an appointment with the same team to find out what was going on with me and my son. We did genetic testing and found that we had familial CG3, and by “we” I also mean my father, cousin, and brother. This disease is rare to begin with, and having genetic CG3 is rarer still.
Living With C3G
It’s been a long road, and that definitely had its share of ups and downs. I still have the kidneys I was born with, and my kidney function is now stable. C3G causes kidney failure in about 50 percent of people within 10 years of getting a diagnosis, according to statistics from the American Kidney Fund.
Not a day goes by that I don’t think about my kidneys because of the many ways that this disease affects my life. Protein in the urine can cause significant swelling. I am a teacher at a Montessori school in Central Illinois, and I am on my feet a lot. When my feet swell, it can be hard to walk or even wear shoes. The fatigue is also really intense and causes brain fog. I make all kinds of jewelry as a hobby, but I haven’t had the energy to sell it lately. Now, I have tons of jewelry sitting around my house.
My son is now 21, and he has mild symptoms. He feels extremely tired and can only work part time.
This is fairly common, says Andrew S. Bomback, MD, MPH, a nephrologist at Columbia University Medical Center in New York, New York. “Those who do have symptoms typically report edema, fatigue, joint pain, and — as disease progresses — difficulty concentrating on school or work.”
And then there is our faulty immune system. We have a complement defect that is causing this disease. This means that we tend to get sick easily and that any illness lasts a long time. It can be hard to recover from colds, flus, and other viruses. I practice good hand hygiene, especially at school, and try to do commonsense things like avoiding people who are sick. Sometimes, I have to make hard choices such as skipping a holiday gathering during a massive flu outbreak.
I try to get enough sleep and drink enough water. I also keep an eye on my lab test results to make sure all my numbers are where they should be.
Giving Back to Move Forward
Connecting with other C3G patients has been beyond helpful for me. These people really know what it is like to live with the disease and can give good direction on what resources are available and how to get the best care.
I first started volunteering with the National Kidney Foundation when they hosted a patient-focused drug development meeting for C3G. This meeting brought patients and their caregivers, doctors, representatives from the FDA, and drug companies to the table to raise awareness about the disease and how it affects patients' lives. I was able to testify at the event and share my experience. I still volunteer with the National Kidney Foundation. My husband is and has always been incredibly supportive. I couldn’t do any of this without him.
Doctors have learned so much more about C3G in recent years. We finally have two treatments that are approved for this disease. There really weren’t many options until now. I am taking part in an extension study of one of the newly approved drugs and am doing well on it.
We desperately need more treatments. The two options that are available may not work for everyone, and they can start to lose effectiveness over time. All C3G patients are unique, which is why we need a lot of options.
So much has changed since I was a child. We now have a name for this disease, approved treatments, and a vocal patient-and-providers community. This all adds up to hope.