Kristal's AMKD Story
Kristal first discovered something was wrong with her kidneys when she was pregnant with her daughter and went to her primary care doctor to figure out why she was so abnormally tired. She learned she was "critically anemic," which prompted her doctor to run "a battery of tests." Through those tests, Kristal learned there was protein in her urine and was referred to a nephrologist. The nephrologist ordered a biopsy that revealed she had focal segmental glomerulosclerosis (FSGS) and irreversible damage to her kidneys. She was told she would likely need dialysis or a kidney transplant in the future.
"I felt somewhat relieved because I really didn't know why I was tired all the time," said Kristal about learning about her diagnosis. "I was sort of disheartened to know that I would need dialysis at some point and that I would need it for the rest of my life. So, I was happy that I knew what was going on, but sad that my options were few and not ideal."
Less than a year after her diagnosis, Kristal began receiving in-center dialysis treatments. She is currently living with her second kidney transplant — which she received in July 2025. It was during a workup to be placed on a transplant waitlist for Northwestern University that her nephrologist recommended genetic testing to discover the cause of her FSGS. That is when she learned about APOL1-mediated kidney disease (AMKD) and she had the APOL1 risk variants.
"I was told that the gene is linked to my maternal grandmother and it's common in people of West and Central African ancestry," Kristal explained. Kristal said her daughter was also a big motivating factor. "I was concerned that she might have kidney issues in the future so that was one of the reasons why I wanted to get the testing. I want her to have the healthiest life possible. So, if there's something else that might affect that, I want her to know about it."
Fortunately, her daughter's genetic test showed she does not have the genetic variants for AMKD. But Kristal is still working to raise awareness for others. "For people with African ancestry, I didn't know that it's a common cause of kidney disease. I might have tested sooner perhaps and maybe prolonged my kidney function that I did have," said Kristal. "Once your kidneys stop working well, it's not likely that they're going to return… There are so many components and it's so complicated and without knowledge, you can sort of get thrown into this situation that it's almost impossible to get out of."