When I was 16, I was in a car accident on my way to school and my spleen was injured. I needed to undergo a CT scan to make sure there was no other internal damage to my organs. The ER doctors checked everything out, including my kidneys. They told me that my spleen would heal—but unrelated to the accident, based on the scans, they suspected that I might have polycystic kidney disease (PKD) and suggested that I consult a kidney doctor. I had no idea what all that meant, but a month later my mom took me to see a nephrologist.
While the specialist confirmed that I did indeed have PKD, which meant my kidneys were engorged with fluid-filled cysts and would probably fail by the time I turned 60, she didn’t seem very concerned about my health at that moment. She even seemed annoyed that I was wasting her time with a visit when I didn’t have any symptoms. My mom and I were upset, but we pushed it to the backs of our minds. I felt like, I’m 16—I’ll worry about this later.
I went on living my life, eventually getting my doctorate in physical therapy. But I always felt as if there was a ticking time bomb in my body that would someday go off. I would think, Now I’m 20; I have 40 more years until my kidneys fail.
A crisis and a new path
For the most part I was able to put my diagnosis out of my mind—until 2021, when I was 28. That was when my father’s kidneys failed because of uncontrolled diabetes, and he needed a transplant. I wanted to try to be a donor, so I went to a new nephrologist in California, where I was living, to see if the first doctor had misread my scans years earlier. I hoped maybe I would find out that my PKD wasn’t so bad and I could do something to help my dad.
The new specialist sent me for ultrasounds, MRIs, and genetic testing. Once the results came, I was told that I not only was unable to donate a kidney to my dad but would eventually need a transplant myself. I felt helpless. Things got even more challenging when my sister was found to be a good match for my dad. Knowing I would need a kidney transplant one day, my dad didn’t want to take my sister’s kidney in case I needed it. It was a tough moment, but my sister decided to donate her kidney to my dad.
Around that time, I decided to move back to New Jersey to be closer to my family. While my California nephrologist reassured me that I had options, I wanted to go to a center where I could be treated by PKD specialists.
I found one in New York City and had my first appointment there in February 2022. I began taking a blood pressure medication and a drug to slow the progression of my disease, which my doctor said could add three to six years of life to my kidneys. It has a lot of side effects, including excessive thirst and frequent urination, and it requires me to have blood work done routinely because there’s a small risk of liver disease for those taking this drug. Still, the chance of gaining those extra years of kidney function made it worth it to me.
I also made a decision to take charge of my health, being more mindful of my protein intake (some people with PKD need to modify the amount of protein they eat), my diet, and my exercise habits, but I have felt really lonely. Most of the time PKD is a genetic disease that multiple members of a given family have, but in my case it came about through a spontaneous mutation—no one else in my family had it, so I had no one in my family to talk to about it. I was grateful that the institute set me up with a peer contact, which really helped.
Life with PKD
Fifteen years after my PKD diagnosis, my labs and scans remain stable. However, my nephrologist recently put me on the highest dosage of my PKD drug, which causes even more thirst and more peeing. It’s hard when people don’t understand why I have to go to the bathroom two to three times during a one-hour meal or why I will ask the waiter to bring me an entire pitcher of water to drink. I also get exhausted easily, and I’m on my feet all day, so I’m often wiped out.
I try not to let my PKD affect my life. I’ve dreamed of being a mom since I was a little girl, but I don’t want to pass on a genetic disease. Thankfully the PKD Outreach Foundation gave me a grant to help pay to freeze embryos made with donor sperm or that from an eventual partner. Once I’m ready to have a baby, my embryos will be tested and I will implant only ones without the PKD gene.
I have also been pursuing another passion: kickboxing. My doctor helped me find a special kidney protector belt that absorbs any kicks or blows to my back. I won my first fight, and I’m currently training for my third. The sport makes me feel healthy, confident, and empowered. Some people stare at my belt, but I use those moments to spread awareness about PKD. I know that eventually I may have to slow down and that a kidney transplant may still be in my future, but I am living each day as fully as I can.
What is polycystic kidney disease?
About 500,000 Americans are estimated to be living with polycystic kidney disease (PKD), in which clusters of fluid-filled sacs or cysts develop within the kidneys, causing the organs to enlarge. About half of patients with PKD will experience kidney failure and require either dialysis or a transplant. The symptoms typically manifest between the ages of 30 and 50, but PKD may surface in early childhood or adolescence, says Richard Fatica, M.D., vice chair of the department of kidney medicine at the Cleveland Clinic. In most cases, PKD is inherited through a mutation on a specific gene.
Symptoms of PKD may include:
- High blood pressure
- Back or side pain
- Blood in the urine
- A full feeling in the abdomen
- Headaches
- Kidney stones
- Urinary tract or kidney infections
While there is currently no cure for PKD, there are treatments to alleviate the symptoms and stabilize the disease. “The cornerstones of therapy are a high water intake and a low-salt diet, Jynarque [a medication to suppress the hormone that causes cyst growth], and blood pressure control with drugs,” says Dr. Fatica, who adds, “A lot of research on different therapies has been done in the past 10 years, and patients are energized by that.”
Did you have symptoms that took a while to get properly diagnosed? We’d love to hear your story. Write to letters@prevention.com.
