My Kidney Story, by William Reiff
William Reiff (pictured above)
My journey with kidney disease started in 1985, at age 15, when my 40-year old mother thought she had a urinary tract infection. My sisters were 13 and 8 at the time. Within a week, my mother was on dialysis. Additionally, within a year, her aunt and mother were also on dialysis. While it was clear to us this disease was genetic; testing was not available at that time. While my mother and her aunt were successful transplant patients, my grandmother was unable to receive a transplant because of a weak heart. Our family was blessed with additional time with all three. In 2006, during routine bloodwork at age 41, my family doctor discovered a higher-than-normal creatinine level. Obviously, this was horrible news. Given that technology is always advancing, I wondered if there was a test that could determine what was causing our family’s kidneys to fail. I lived in Ohio at the time and scheduled an appointment with a nephrologist at the Cleveland clinic. After the initial consultation, he recommended I meet with a geneticist and share my family’s history. Additionally, he connected me with Dr. Bleyer at Wake Forest University. Under Dr. Bleyer’s care, I entered an ongoing study and was properly diagnosed with autosomal dominant tubulointerstitial kidney disease (ADTKD). ADTKD is a group of genetic disorders which cause progressive decline in kidney function due to a specific gene mutation. My specific diagnosis was with mucin-1 kidney disease (aka MUC1).
Over the next 9 years, I remained helpless watching my creatinine increase to 6.0 in 2020. I had limited energy and was always exhausted. At my next appointment, I was told I needed to start dialysis. I selected peritoneal dialysis and scheduled surgery to embed the port into my peritoneal cavity. The treatment involved filling this cavity with an IV solution called dextrose. The solution went into the cavity several times a day and remained for approximately 2 hours. This is known as “dwelling”. During this process the solution would extract the toxins in my blood. After the dwelling period, I would drain the solution out of my body and dispose of it. While this allowed me to have some control over my life, I was overcome with emotion. I worked in an office building and was able to do the treatments at work. As time went on, I was very fortunate to receive a kidney donation through a family member. The most amazing part is my donor started a donation chain that allowed several other patients on the transplant list to receive an organ. As the world was trying to comprehend the corona virus, seven people, plus me, received a living kidney donation.
Once I recovered, I became actively involved in various organizations. Through these organizations, I was connected to Richard Nelson and Drew Ludlow, the Broad Institute, and their work to start the Rare Kidney Disease Foundation. Seeing this as the future of how we will overcome this disease, I wanted to be involved. Hope is on the horizon for families and patients that have battled with this disease.