You may be asking yourself:
What in the world is PKD?
Polycystic Kidney Disease is a genetic disease that causes problems only once the many cysts (present from birth) begin to grow. It usually causes problems in late middle age, and one can have high blood pressure, back pain, and lessening kidney function.
It occurs in humans and some other animals. PKD is characterized by the presence of multiple cysts (hence, “polycystic”) typically in both kidneys. However 17% of cases initially present with observable disease in one kidney, with most cases progressing to bilateral disease in adulthood. The cysts are numerous and are fluid-filled, resulting in massive enlargement of the kidneys.The disease can also damage the liver, pancreas and, in some rare cases, the heart and brain.The two major forms of polycystic kidney disease are distinguished by their patterns of inheritance.
Polycystic kidney disease is one of the most common life-threatening genetic diseases, affecting an estimated 12.5 million people worldwide.
Dad’s brother, Uncle Wayne, was forced to go on dialysis at an early age and Dad visited him in Chicago as often as he could. One day Uncle Wayne happened to mention that the doctors thought this kidney problem could be genetic.
That was all Dad had to hear. He immediately made an appointment at the Mayo Clinic in Minnesota and, unfortunately, the doctors were able to determine that he too was suffering from Polycystic Kidney Disease. As soon as Dad got home, he phoned my sister Lindy and me and asked us to get tested.
The odds of inheriting PKD from a parent are 50-50. So my sister and I made appointments with a doctor in Iowa (where we were both living) and, after looking at our x-rays, the doctor announced that we were both healthy. My sister and I celebrated the good news with our favorite pie and, of course, phoned our dad.
Dad was not as accepting of this good news as we were. He spoke to his physician Dr. Kurtz who asked that we send the x-rays to the Mayo Clinic. Once Dr. Kurtz reviewed them, he proclaimed Lindy fine and he asked to see me. I drove to Rochester hoping against hope that I would not have the genetic disease; however, once they re-tested me, I was told the same news as my dad and uncle.
Dad was always one to make the best of a bad situation. He did everything the doctors told him (which included losing weight and severely limiting protein). Both of us prayed that a cure would be found. For Dad, there was no cure–just seven years of miserable dialysis treatments.
I have fared more favorably. I am now in the seventh year of a drug study hoping to slow the progression of the disease. When I entered the drug study, I was locked away in a research facility for ten days with other people who had PKD. I was calling myself “Martha Stewart” since we were confined to the clinic 24/7. For the first time in my life, I met people who had the same disease as me. It was a privilege to spend time with all of them, and I learned a great deal about how each of them had managed their disease to date, as well as their hopes and expectations for the drug trial.
Dad felt horrible about unknowingly passing a genetic disease to me. However, Dad passed so many wonderful to qualities to me and gave me so many wonderful memories, I cannot be sad about inheriting this one thing. Dad would be delighted to know that I am in the drug study and that many people are working to defeat PKD.