When Kidney Disease Runs in the Family

About 18 years ago, when Kathy Stankus was in her mid-30s, she learned that she had a rare kidney disease caused by a genetic mutation. “It’s likely that my mother and grandmother had the same thing,” she says. Sadly, both of them died of renal failure.  

Before her fateful diagnosis, Kathy thought she was perfectly healthy. But then, her doctor informed her that she had high blood pressure, anemia and kidney failure. It was time to start preparing herself for the inevitable: kidney transplant surgery or dialysis. 

A genetic test confirmed that Kathy had an abnormality in the uromodulin gene resulting in a disorder called autosomal dominant tubulointerstitial kidney disease (ADTKD). That was a lot for her to take in. Even more upsetting, she says, was the possibility that her children had inherited the uromodulin (UMOD) mutation from her. Each of her 4 children had a 50-50 chance of inheriting it. 

Three of them won the genetic coin toss, but Kathy’s youngest daughter, Emma, tested positive for the mutation. The good news is that so far, the 20-year-old has shown no signs or symptoms of ADTKD. By all accounts, she’s a healthy college student, living life to the full. 

Preparing for her transplant 

Many patients are understandabl anxious in the run up to transplant surgery, and Kathy was no exception. For one, she says, you’re forced to wait for your health to deteriorate before you can schedule a transplant. She recalls how fatigued and achy she was. “I had trouble getting up in the morning to take my kids to school  But my emotional state was even worse. I was afraid I wouldn’t live to see them grow up.” 

Thankfully, her fears were unfounded.  

Kathy spread the word about her need for a kidney, and no fewer than 10 people volunteered to be her donor. Her husband’s Uncle Terry was the closest match of all, and he ended up donating his kidney to his niece-by-marriage. When she tried to express her profound gratitude to that beloved family member, he said, “If I have something you need, it’s yours!” 

Just one potential complication: Kathy’s immune system was exceptionally active. That might have thwarted her chances for a successful transplant. However, Weill Cornell Medicine was offering what was then a new treatment, designed to modify her immune response to the newly transplanted kidney. In 2007, she underwent transplant surgery at Weill Cornell. Medicine.  

Although the road hasn’t been completely bump-free, she has done well since then—until quite recently. The time is fast approaching for a second transplant. 

Ongoing care 

Dr. Darshana Dadhania, an Associate Professor of Medicine, Associate Attending Physician and Medical Director of the Kidney and Pancreas Transplant Program at Weill Cornell Medicine, has been monitoring Kathy’s health over the past 17 years. Back in 2007, she showed no signs of rejection of her new kidney. Her overactive immune system had been effectively tamed, at least for a while. 

Then, in 2013 and again in 2018, her doctors noted evidence of inflammation, caused by chronic antibody-mediated rejection, Dr. Dadhania explains—and they proceeded to manage the problem on both occasions.  

Now, another 5-year interval has passed, and Kathy’s kidney function is getting close to the edge, Dr. Dadhania says. “It isn’t urgent yet, but we expect that she’ll need a second transplant within the next couple of years. In the meantime, she’s doing well. Her metabolic parameters are all good, and her anemia is well controlled. 

“Soon, though, she’ll need to start preparing herself mentally and emotionally for next steps,”she continues. “That means making plans, discussing the process with her family and friends and, ideally, identifying a potential living kidney donor.” Compared to deceased donor kidney transplants, living donor transplants are associated with better long-term outcomes and shorter wait times.  

Kathy has been through all this before, but it has been 16 years since her first transplant, so she’ll definitely need a refresher course! When the time comes, she’ll be able to tap into all the excellent patient education resources at Weill Cornell while relying on her earlier experiences to help her pull through the surgery and its aftermath safely and successfully.   

A full life 

Kathy, a resident of Bergen County, Jersey, is hugely appreciative of the care she has received at Weill Cornell Medicine in New York City and the full life she has led since her first transplant. “I got to raise my children and see them grow up. I’ve been able to work, travel, spend quality time with friends and family and enjoy normal, everyday activities.” 

Her story couldn’t be more different from her grandmother’s, who passed away in her 40s, and her mother’s, who was offered just one treatment option: dialysis. “Regrettably, she wasn’t considered a good candidate for a transplant,” Kathy says. 

Kathy’s story also features a large, loving support system. “I learned how many people were willing to help, and I learned to accept that help, even when it felt uncomfortable.”  

Over the years, she has also learned to stay out of harm’s way. For a transplant patient, “harm” comes in the form of infectious diseases, from the common cold to the flu and COVID-19. Kathy does her best to avoid crowds, and she wears a mask when warranted. 

Then there’s self-care: “I take my immunosuppressive medications twice a day at the same times and at the correct doses. I check my blood pressure twice daily as well. And I see Dr. Dadhania regularly.” 

Kathy continues to work part-time as a paralegal, and she volunteers with the Rare Kidney Disease Foundation. She hopes that other patients like her who have a family history of kidney disease will learn about the Rare Kidney Disease Foundation and seek genetic testing to discover the cause of their disease.  She dreams of the day when there will be a cure for rare diseases like ADTKD. Her daughter Emma’s future may depend on it. 

In the meantime, there’s plenty of support for patients requiring ongoing care at Weill Cornell Medicine—before, during and after a transplant.  

Find a nephrologist at here and learn more about the Kidney and Pancreas Transplantation program here.