Jennifer Mayer O’Keefe (pictured above)
My journey with kidney disease really starts with my father, Henry Mayer. Some of my earliest childhood memories are of my dad experiencing end stage kidney disease. He discovered at the age of 45 that he had CKD from a blood test when the exhaustion he was experiencing warranted a doctor’s visit. His doctor’s advice was, “Henry, go home and get your house in order.” It looked like he was going to succumb to the same disease that took his father’s life in 1922. But luckily for him it was 1968 and dialysis was an option offered to my dad to extend his life. I remember the tubes taped to my dad’s forearm, the diet restrictions that we all followed and a sense of gloom in our once care-free family. Then came the hopeful news that he qualified for an experimental life-saving treatment known as a kidney transplant! My older siblings were tested to see if they qualified to be a living donor and the oldest, my brother Mike, (a B match), saved my dad’s life becoming one of the first father-son living donor transplants in the USA. My dad lived 29 extra years coined his ‘gravy years’. He lived a full and productive life and never complained about all the meds he took daily and the side effects including hip necrosis, diabetes and various skin cancers. He was just so happy to be here! Often times I would catch him sitting by himself quietly watching his grandkids play and taking it all in, so grateful to be alive. He passed away at the age of 74 from a heart attack.
Although there was a strong family history of CKD, including his brother Bob, my dad was told that the likely cause of his kidney disease was due to the scarlet fever that developed from a case of untreated strep throat in his 20’s. Therefore, my whole life growing up, there was an underlying sense that CKD could potentially be in my future but was preventable if I avoided scarlet fever. My mom was diligent in taking every sore throat we had seriously testing for strep. When my kidney function declined during my first pregnancy at the age of 27, I was shocked when my doctor indicated that the pre-eclampsia I was experiencing could be due to an underlying kidney issue but was relieved when function returned to normal after the birth of my first daughter.
My kidney function remained stable for ten years until a slightly raised creatinine level on a blood test prompted a visit to a nephrologist. He ran some tests and after they revealed normal appearing kidneys and function(no cysts or hydronephrosis and a normal urinalysis) the nephrologist told me I did NOT have CKD and sent me on my way and once again I was relieved. Fast forward another ten years and my blood test again revealed a slight drop in kidney function. Another trip to a nephrologist who, based on the fact that my bloodwork had been trending towards decline, officially diagnosed me with stage 3 chronic kidney disease. I remember the words as they came out of his mouth almost in slow motion. The disease that loomed over my head my whole life, a disease I dreaded, had me in its grips despite any attempt on my part to avoid it. I was in shock and fighting back the tears when I ask how this happened. It was surmised that a slight increase in blood pressure may have been the culprit plus damage from pre-eclampsia. The nephrologist calmed my anxiety when he told me that based on his calculations derived from my slow decline, my kidneys would NEVER fail during my lifetime as long as I remained on blood pressure meds and stayed away from NSAIDS. Again I was relieved and assumed I had control over this thing. But I was wrong.
Over the course of the next few years as my kidney decline accelerated despite following this medical advise it was apparent that there was another component causing my kidney destruction. The thought was if we could figure out the cause we could halt the trend toward failure. I felt good and I looked healthy which left my nephrologist scratching her head for an answer. I scoured the internet searching for other CKD patients like me with normal appearing kidneys, normal urinalysis, near normal blood pressure, and no history of diabetes or autoimmune diseases until it was discovered in 2014 that I had an immune disorder called sarcoidosis which can sometimes affect kidneys. Finally an answer! I was relieved to find out the sarcoidosis could be treated with steroids. I was in control. But, the CKD only worsened and in 2019 my declining kidney function qualified me to be added to the transplant list.
Around this same time, my brother Dave had also been struggling with CKD thought to be from his years of exposure to exhaust fumes while working as a bus mechanic. When his daughter went into acute kidney failure during the delivery of her first child, the nephrologist she saw in Madison, Wisconsin referred her to a geneticist who was aware of the work being done at the Broad institute. Based on our family history and the presentation(increasing creatinine and a bland urinalysis with normal kidney scans) my niece was referred to Dr. Bleyer and was tested for a newly discovered genetic disorder that affects kidneys called Autosomal Dominant Tubulo-interstitial Kidney Disease. First she was tested for the UMOD variant. When it came back negative they tested her for the Mucin 1 type and just like that, the mystery of our family history of CKD that spanned over multiple generations was solved.
Knowledge is power but ignorance is bliss and the news came as a bittersweet moment for me. On one hand, I could stop searching for a cause but the ramifications of this diagnosis meant there was no control over my fate and to make matters worse, each of my four daughters now has a 50% chance of having the gene. Also, there are still unknowns that surround this diagnosis. Why do some kidneys fail at the young age of 25 while others fail at 70? Can lifestyle changes affect outcomes and prolong kidney function? How will the diagnosis affect my children’s lives and their relationships and decisions regarding starting a family? And why wasn’t my nephrologist who was treating me at the time even aware of this disorder? I needed to talk to others experiencing this to commiserate and learn from. I searched high and low but because this was a rare newly discovered form of CKD there was not much out there.
I was happy to find a Facebook group started by the Nelson family. I read Richard Nelson’s story and immediately could relate to his experience. It was hopeful to talk to the Nelson family as well as Dr. Bleyer who informed me about the advances being made to thwart the insidious kidney damage caused by this genetic disorder. There is hope that none of my children or grandchildren will suffer end stage renal failure and so I will grasp onto that hope and the sense of empowerment that comes with it to change the inevitable course of this disease.
My journey is ongoing as I near complete kidney failure without a viable donor in my corner. Although fearful at times, my anxiety is quelled by my trust in God and my dad’s story and those like him who have successfully weathered the storm that is ADTKD. They have come out the other side living their best life, a life full of gratitude for the ‘gravy years’ gifted to them through generous kidney donors. I am grateful that CKD is no longer a death sentence and that through the work done at the Broad institute the chronic kidney disease that has plagued my family may only be a slight inconvenience for future generations…And I am relieved.