My ADTKD Story - Sheri Dafoe
Sheri Dafoe, pictured
Coffee filter. My nephrologist explained this is what my kidney was like. Slowly, the “filter” would be plugged, and my kidneys would stop working. Our story begins with my grandfather. I knew he had died of kidney failure in the early 50’s, at a young age. My grandmother was left to raise two young children alone. We never knew him, but I was told he was a generous, funny, and kind man. My grandmother stepped up to run her husband’s business, but within those years, both of her beloved children would also experience failing kidneys. My father, very sick most of my teen life, would live 10 years post-transplant. His sister would not come home after transplant. Such incredible loss to our entire family, and then, over the next several years, my older sister, two of my cousins, and myself, experienced complete renal failure. During those years genetic disease was dismissed, but this didn’t make sense.
In the year 2000, I found an article by a nephrologist, Dr. Scheinman, who was researching a family with unusual numbers of kidney failure. I hoped he could help us. In 2001 he took me on as a patient with elevated blood pressure and creatinine levels after a trip to the emergency room. I knew I was now traveling the same road as so many of my family before me.
A picture drawn by Sheri’s son during her time on dialysis
In 2002, at my grandmother’s calling hours, family members took turns voluntarily getting a cheek swab and blood work done to see if there was enough information to do any research. I spent three and a half years waiting for a kidney, doing both hemodialysis and peritoneal dialysis with two little ones at home. I just prayed that my son would be able to make a peanut butter and jelly sandwich before I started dialysis so that if he was hungry, he could make it himself. In 2008 I was given a kidney by a generous organ donor. It is now 15 years since my transplant, and two more family members were diagnosed with kidney disease, making a total of 9 in our family. However, immunosuppression has taken its toll. There are 3 of us left who have had transplants, and 1 waiting for a transplant.
When visiting physicians, I was always asked, “What’s the name of your disease?” I would reply with, “there isn’t one. It’s being researched.” Several years ago, we began correspondence and met with Dr. Anthony Bleyer. We learned from him that our kidney failure was genetic, and we now had a name for it, Autosomal dominant tubulointerstitial kidney disease (ADTKD) with the Muc-1 mutation. We learned that we are not alone, but more importantly we learned that there was hope for a possible treatment or cure. Dr. Bleyer’s Facebook page introduced us to the Rare Kidney Disease Foundation where we heard stories of people who are just like us! I am hopeful that through their work, and the Broad Institute, we will change the outcome for our family in the future.