Sharon’s Patient Story

When my mother was diagnosed with end-stage renal failure in 1985, she hadn’t wanted to be placed on the kidney transplant list. She said she wasn’t ready – which pained me, but I understood. After all, she watched her mother die after a failed transplant in 1979 at the age of 66. Unfortunately, the longer my mother delayed getting on the list, the more her health deteriorated, until she eventually became ineligible for a transplant. She died from end-stage renal failure at the age of 57 after having been on dialysis for 10 years.

Not only did my mother and grandmother die from renal failure, but so did three of my mother’s five siblings. Some were diagnosed with polycystic kidney disease, others with medullary kidney disease, so their nephrologist had ruled out genetic causes. Was this truly just coincidental that so many family members across multiple generations had some form of kidney disease?

Soon after my husband and I married and moved to Virginia in 1995, I sought out a nephrologist. We wanted to start a family, so at the age of 30, I decided it was time to start tracking my kidney health. At my first appointment, my nephrologist had ordered bloodwork and a sonogram to get a baseline of my kidney functioning and how they looked. The size and shape of my kidneys were “unremarkable,” ruling out polycystic kidney disease, and they were functioning at 60 percent, signaling Stage 2 chronic kidney disease. My nephrologist was not concerned, but he did insist I see him annually.

Life went on. My husband and I managed busy careers while raising our two boys. I ate a kidney-friendly diet, drank lots of water, tried to walk at least 30 minutes each day, and continued to see my nephrologist.

By March of 2017, at the age of 52, my eGFR had dropped to 29, signaling Stage 4 of chronic kidney disease. Coincidentally, that same month I received an email from my 34-year-old cousin who had been diagnosed with kidney disease a couple of years earlier and was currently on dialysis. Her father, my mother’s youngest brother, had had a transplant years earlier. He told her – incorrectly – that the family’s kidney disease was passed down only through females, which meant he couldn’t be a carrier, so my cousin couldn’t get the disease. Naturally, then, my cousin was shocked and scared by her diagnosis. But she was also intrigued and began researching genetic kidney diseases.

That’s when she found Dr. Anthony Bleyer, a professor of nephrology at Wake Forest University School of Medicine whose team had been conducting research on rare inherited kidney diseases since 1996. My cousin enrolled in his research study, which included genetic testing for MUC1, and encouraged family member to do the same – which I happily did. I discovered that I, like other family members who had been tested, had the MUC1 gene mutation. So did three of my five siblings.

Since undergoing the kidney transplant evaluation process in 2020 and being placed on the transplant list in 2021, my eGFR has hovered around 19.0. I am hopeful that the brilliant geneticists, biologists, and physician-researchers studying rare kidney diseases will find a treatment in my lifetime and HALT this disease from further ravaging my family tree.

Left to right: Sharon’s grandmother, Anna Marie Pinkel McCarthy; Sharon’s mother, Kathleen McCarthy McGroder, and Sharon