A family first: Being diagnosed with a genetic kidney disease

"First in the family" is often a big milestone for both you and your family. First to attend college, first to own a home, first born in a new country. However, not all "firsts" are causes for celebration, such as when Mary "Biafra" Denmark learned she was the first in her family to have a genetic kidney disease called polycystic kidney disease (PKD). 

PKD causes cysts to grow inside the kidneys. Cysts are growths filled with fluid, and PKD can cause thousands of them to grow in the kidneys. The cysts also damage the kidneys and make them much larger than normal, sometimes making a kidney weigh up to 30 pounds. 

PKD is almost always passed down from a parent or from both parents to their child. But in some cases, a change (mutation) in your genes can cause PKD when no one else in your family has previously had the disease. That was the case for Biafra, who first learned about cysts on her kidneys in 1991, when she was 21.

"I was pregnant, and I was not feeling well. [I] rushed to the hospital and they discovered that I had an ectopic pregnancy," Biafra explained. "After the surgery, the surgeon came to me and he said, 'Everything went fine. You just have a few cysts on your kidneys, but you don't have to worry about them until you're like 50.' And so, I was like, 'OK, no big deal.'" 

Her official diagnosis did not come until nine years later when she was pregnant with her fourth child and having trouble with her blood pressure. 

"My OB ran a lot of tests and that's when he discovered the cysts," said Biafra. "And I was like, 'Oh, yeah, my doctor told me a while back about cysts and he said it was no big deal.' And [my OB] just hit the roof in the room. That was in 2000 and that was when I really became aware it was polycystic kidney disease."

Like any form of kidney disease, PKD cannot be cured, but it can be managed. After understanding her diagnosis, Biafra took steps to slow the progression of her disease. In 2016, though, her kidneys began failing. She started peritoneal dialysis and joined the transplant waitlist. She encourages others with PKD who need dialysis to explore the options available. 

"If it comes to a point where dialysis becomes necessary, understand all the options available to you," said Biafra. "Some people prefer hemodialysis, others, like myself, decide to choose peritoneal dialysis… however you choose, be sure to research before you decide which is best for you."

After nearly seven years, Biafra was thrilled to receive a new kidney in November 2023. Although the post-transplant experience was not completely smooth as she faced post-transplant infections and a virus, she is recovering well now.

"Everything turned around. My numbers started declining with the new treatment and everything with my recovery is going well," said Biafra. "I even started a part-time job."

Despite all the challenges, Biafra has approached her kidney disease diagnosis and subsequent journey to transplant with good humor and positivity. Even describing how she learned about her diagnosis, Biafra joked that she felt "shocked and also a little special. I mean, who doesn't like being the first one to do something?" 

Biafra also recommends that anyone with PKD do their best to not let the disease keep them down. 

"PKD is not a death sentence, and you can live a long, happy life as long as you keep a positive attitude," said Biafra. "When I say keep a positive attitude, I am not saying there won't be days that aren't difficult or that you'll never be sad. Of course, there will be, and recognizing those and living with those moments is important — but know that they are fleeting, and help is available to get you through them."

This approach also helped her when her oldest daughter was diagnosed with PKD. 

"I'm able to be there for her to hold her hand through this," said Biafra. "So, she doesn't have to be just flailing in the wind like I was."

However, it is still hard for Biafra to know that her genetic mutation is affecting her family. 

"It's still difficult for me to know that I am the one who caused her, and possibly my other children, to have this disease. I understand the pain and anguish it can cause and hate that because of me, they may have to experience the things I did," said Biafra. "I pray that it doesn't progress the way mine did."

Biafra said her daughter is doing amazingly managing her PKD, keeping her appointments with her nephrologist and ensuring she's following a kidney-friendly food and fluid plan. 

"Do everything your nephrology team suggests but never stop being an advocate for yourself," Biafra said. "Research PKD topics, attend seminars, talk to people with PKD and, most importantly, ask questions! This is your health and your life, and you are entitled to the best care possible." 

Her last piece of advice to others living with kidney disease once again displays her humor and joyous approach to life:

"Name your kidneys. Mine were Neffy and Frofro – a play on nephrology," she said. "My new kidney is called Rena, which is short for renal. It's fun and you'll take better care of them when you think of them as friends. Your lumpy, bumpy friends."