Nineteen eighty-four was a crummy year for me. My second marriage fell apart completely. The computer company I was working for was losing money and my job was in danger. Finally, during a routine physical, my doctor found excess protein in my urine.
A small amount of protein in the urine is normal, she said, but the amount I had “could be a sign of kidney disease.” She recommended that I see a nephrologist.
I wanted to shrug off the doctor’s findings. Kidney disease? I was only 33 years old, and I felt fine. I had plenty of reason to feel a bit fatigued, given everything else that was going on in my life. (In addition to everything else, I was the sole provider for my 12-year-old son.) As far as I knew, kidney disease didn’t run in my family. Most important, I didn’t have time for kidney or any other kind of disease.
But I saw a nephrologist, and within a week — after blood and urine tests and a kidney biopsy — I had a diagnosis I couldn’t even pronounce: focal segmental glomerulosclerosis. FSGS, the nephrologist explained, is scarring in the kidneys’ tiny blood vessels that filter waste from the blood. Once these filters have been scarred, they can’t be repaired. If the scarring becomes significant enough, the damage can lead to kidney failure, which means a lifetime of dialysis, a kidney transplant or death.
This news got my attention and sent me to the famed Mayo Clinic in Rochester, Minn., not far from where I was then living, for a second opinion. The doctor at Mayo confirmed the FSGS diagnosis but gave me a bit of hope. While there was some scarring, he wrote me after our meeting, my kidney function and blood pressure were normal and my overall prognosis was “quite good.” His words were enough for me, and I went on with life, at least for a while.
In the early 1990s I developed high blood pressure. The health of both my kidneys started to deteriorate a few years later. And shortly after celebrating the new year in 2000, I had my first dialysis treatment — 16 years after I had been diagnosed with FSGS. My first transplant, a loving gift from my sister, was in March of that year. I was 49 years old. Four years later, shortly after marrying and moving to Washington, the FSGS recurred in that transplanted kidney. After five years of dialysis, I had a second transplant, at Johns Hopkins Hospital, in 2009. This time I was part of a kidney swap involving my husband, another recipient and an altruistic donor. Today my transplanted kidney is functioning well and again my doctors describe my prognosis as good.
Jeffrey Kopp, a senior investigator at the National Institute of Diabetes and Digestive and Kidney Diseases and a leading FSGS researcher, says no one knows how many people in the United States have FSGS. About 5,400 cases are diagnosed each year, but that is probably an undercount.
Researchers know that African Americans have much worse odds than other people. “We estimate the lifetime risk for FSGS as 1 in 600 for whites . . . and 1 in 140 for blacks,” says Kopp. This means that people of African descent, like me, former NBA star Alonzo Mourning and former San Antonio Spurs all-star Sean Elliott, both of whom have FSGS, are four to five times as likely as whites to be diagnosed with the disease.
According to the National Kidney Foundation, the causes of FSGS include an infection such as HIV; toxicity caused by a drug; obesity, which is taxing on kidneys; and underlying diseases that affect the whole body, such as sickle cell anemia, diabetes and lupus. There may also be a genetic component.
But exactly how the disease is passed on and why some family members are affected while others are not is not understood. Often, as in my case, there is no known cause.
For many people in the early stages of FSGS, there may be no symptoms, or the symptoms may mimic those of ailments such as high blood pressure. As the illness progresses, protein in the urine, swelling and weight gain from fluid retention may appear. However, a kidney biopsy is the only definitive way to reach a diagnosis.
According to Michael Choi, clinical director of nephrology at Johns Hopkins University School of Medicine, the only treatment focuses on slowing the progression of the disease. Doctors use steroids to improve kidney function and decrease protein in the urine; blood pressure medicines to keep pressure down; diuretics to help the body get rid of excess fluid; and dietary changes, such as reducing salt and protein consumption, to lighten the load on the kidneys.
Often, though, the treatments do not do much. A high percentage of FSGS patients do not respond well to steroids, which have significant side effects. I know firsthand the many negatives of steroid therapy: bloating and weight gain, blood pressure increases, bruising, sleeplessness and anxiety.
According to the National Institutes of Health, most FSGS patients eventually progress to total kidney failure in five to 20 years, though a severe form of the disease can cause failure in two to three years. At that point, dialysis or transplant become the only options. Unfortunately, FSGS recurs in 25 to 40 percent of patients who receive a kidney transplant. I was one of them.
Kopp admits that on some days he’s frustrated by the challenges FSGS presents. However, he is also very encouraged by advances he and his colleagues are making in understanding how this disease operates. Recently as we sat in his tiny office, crowded with papers and file cabinets, Kopp described the work he considers most promising: a 2010 NIH-funded study that links kidney-disease risk to a gene variant found largely in West Africa. The study suggests that the increased risk of FSGS among African Americans is due to that gene variant.
Kopp then took me around to offices and laboratories where researchers are studying blood and urine samples from African Americans to determine how the gene variant damages kidneys. Researchers are also introducing the gene variant into mice to see if they become prone to kidney disease as a result.
The goal, Kopp says, is to develop new treatments for FSGS within five to 10 years. In the meantime, Kopp suggests that anyone with a family history of kidney disease be screened regularly for FSGS.
I left NIH feeling oddly empowered — even though I still have FSGS, even though it could still come back in my second transplanted kidney, even though I might have passed a rogue gene on to my son or my precious granddaughter. For the first time I felt as though there was something useful I could do. I e-mailed Kopp and volunteered my bodily fluids for his study.
Bernardine “Dine” Watson, a writer living in Washington, is working on a memoir about her experience with kidney disease.