When I was in my late 40’s, I was diagnosed with Chronic Kidney Disease (CKD). Then, my older sister, Margaret Hengst, was also diagnosed and finally my younger sister, Pat, was diagnosed. There are just the three sisters in the family. The general thinking was that all three cases were related to high blood pressure. That made sense since our father also had high blood pressure problems and high blood pressure can run in families.
But, on the other side of the family, our mother died at 53 from kidney disease. Our grandfather, our mother’s father, died at 52 of kidney disease and his mother, our great grandmother, died at 75 from what appears to be a combination of kidney disease and cardiovascular problems. Or was the connection to our great grandfather? He died at 75 from cardiac failure, but two years earlier was diagnosed with cardiovascular renal disease. CKD can lead to heart disease.
There seemed to be a family connection that no one had recognized.
After being on the transplant list for just over two years and on dialysis for about one year, I was transplanted in February 2021 at Medical University of South Carolina (MUSC) in Charleston. Then in January 2023 my younger sister, Pat, was transplanted at MUSC’s second transplant centers in Lancaster, South Carolina. My older sister, Margaret, who is on dialysis and is on the waitlist at Johns Hopkins in Baltimore had DNA testing to determine if there was a genetic link. It was determined that there was no genetic link.
It was in Lancaster that Pat’s transplant nephrologist, Dr. Prince Anand, put her in touch with Dr Anthony Bleyer at Wake Forest. Dr. Bleyer is a nephrologist who is a leader in research of rare kidney diseases – UMOD and MUC1. After learning about the family history, Pat was tested and was found to be positive for MUC1. Now there are additional family members, including myself, who are waiting for genetic test results to be returned or are finishing up testing.
Currently, there is no cure or treatment for MUC1. Failing kidneys lead to dialysis and then to transplant. At the Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) Family Day in Winston Salem in September, a TED talk by Dr. Anna Greka presented the advances that are being made at the Broad Institute in Cambridge, Massachusetts, a research organization of MIT and Harvard. With the advances being made, transplant as the only solution to kidney failure may change sooner rather than later.
My name is Sally Harrison, and I was transplanted in 2021. My sister, Pat McColl was transplanted in early 2023. My prayers are for my older sister Margaret Hengst. She is on the waitlist for a transplant at Johns Hopkins. May her transplant be soon. God has been so gracious and merciful, and we are all trusting in Him.
Pictured above: Pat (Sally’s sister) and Sally
Pictured above: Warren and Margaret (Sally’s sister)