An Invisible Disease, by Autumn Carroll Steen
I have no recollection of the day or even the manner in which I was told I had the Carroll kidney disease, which is how I thought of it at the time. All I knew was that this was a momentous occasion to gather the multitudes of Carrolls living in Western North Carolina to the space above my family’s doctor’s office. I remember it being summer and feeling like a family reunion with our beloved doctor, Dr. Woodard. He was an avid fly fisherman and fit in easily with the casual, ribbing conversations my dad and his family loved to have with one another. But today, a new doctor was in the room. A friend of Dr. Woodard, but not from our area of the state. I remember thinking Winston-Salem sounded like such a metropolis. Dr. Bleyer was obviously the academic type. I felt like I needed to be on my best “smart” behavior when I talked with him and I felt nervous when he would interact with my family. They showed him respect, but there was an uncertainty there that did not exist with Dr. Woodard.
Dr. Woodard introduced Dr. Bleyer as someone who had been studying us and was very intrigued why so many Carrolls developed gout (some in their teenage years) and eventually chronic kidney disease. We were told that we may actually have a rare type of genetic kidney disease not yet discovered, instead of what I had always assumed was just rotten luck. We were a large brood, with my dad the youngest of 14. It was always difficult for me to remember who my uncle, aunt, or cousin was, since the age range was so wide. We also never put in a lot of time to distinguish these connections. They were just family. A decade down the road, while sitting in a nephrologist’s office at the University of North Carolina, I cursed my inability to keep these family members straight while a resident physician all but demanded I create a family tree and mark each one afflicted with this mysterious disease they did not learn about in school.
Dr. Bleyer gave a PowerPoint presentation with pictures of his family, including his kids, which made him less intimidating. It was clear he was smart, dedicated, and a loving father. I felt a kinship with his kids, as I, too, had this type of Dad, except his smarts were used to manage the finishing department at Henredon, a furniture factory in nearby Spruce Pine. Dr. Bleyer then made his big ask which was for all of us to provide samples of our urine and blood for his research. I remember feeling pretty special that this impressive doctor thought my family’s blood was worth studying. We all obliged enthusiastically and waited to be told the results.
Later, at another family meeting, Dr. Bleyer was a comfortable extension of our family just like Dr. Woodard. His genuine desire to help us was palpable. I know there were many meetings before the one I remember most, but my adolescent brain’s memory skips to the one when he told us he found the gene. He was elated and explained this was the first step to finding a cure. He was also toying with different names since this was a brand new disease. I found it admirable that he did not just call it Bleyer Kidney Disease like some researchers do when they find a new species in the wild. He said he wanted the name to reflect the true nature of the disease and also make it easier for other doctors to find it in their patients. This is when I realized that it was not just the
Carroll Kidney Disease. Later, he would tell us that we had “cousins” with this disease all the way in Australia.
It became clear to me that I also have this disease, now known as ADTKD-UMOD, but I am still not sure how I came to find this out. It feels like it was one of those things said in passing, and I accepted it as no big deal. It made sense that both my brother and I share a disease with my father and most of our family. It was only after I watched a lot of those who attended our summer meetings with Dr. Bleyer start dialysis or heard the news that they received a new kidney that I started to consider the fate of my immediate family.
My Dad started hemodialysis three days a week after work, which meant he came home pretty late those days. He seemed exhausted, but he tried his best to hide it from us. We still went on with life as usual. My brother got a job at Henredon, and he was thrilled to be working alongside our Dad, who everyone loved and respected there. I remember stories of people he had to let go who still spoke of him with admiration.
My Dad was still getting used to dialysis when he came home one night, went to the bathroom, and collapsed. My mom called 911, and an ambulance took him to the closest hospital in Spruce Pine. There, our beloved family doctor, Dr. Woodard, came to the family waiting room and said while breaking into tears, “we lost him”. I will never forget the pained look and the genuine grief on his face while he tried to assure us that he did everything he could for his patient and friend. We were devastated. He was the bedrock of our family, and it was unimaginable that he was gone.
20 years later, I am the one trying to hide this invisible disease from my daughter’s eyes so that she will not worry about me. My brother successfully received a kidney transplant when he was 30 from a selfless member of our family and they are both doing well. I secretly worry and hope I will be one of the lucky ones to have a successful kidney transplant, but I know it is not simple. My husband and I were able to pre-select an unaffected embryo for IVF transfer, and although that process was hard, we will never have to worry if our 4 year old daughter, Eva (named after my father’s mother), will have this burden.
I love to be active, and despite blaming my chronic anemia for my slow running pace, this disease is not visible to anyone except my nephrologist. It is a gift to walk around with a rare disease and be in control of who knows. I am grateful for the normalcy this has provided for my life so far. But I know that soon, this will all change. Soon I will be the one on dialysis, or prepping for a kidney transplant, or taking medications on a strict schedule afterwards which will increase my risk of melanoma. I am a sun worshiper, and my cousin passed away from melanoma as a side effect of the anti-rejection medication. Some people think you are cured after transplant, but a transplant is a treatment, not a cure, and unfortunately, my cousin was unlucky.
All I know to do is enjoy this sweet spot of stage 4 CKD, not yet ready for transplant and not on anti-rejection medications, for as long as possible. No one knows how long this precious time will last, and I hope to make the most of it.
The wedding photo is of Autumn Carroll Steen, with her brother, Mitchell Carroll. The other photos are of Autumn Carroll Steen with her father, Tommy Carroll.
