When you look at families, you can often see traits that have been passed down. Sometimes it’s appearance, mannerisms, or behaviors. In my case, my freckles and brown eyes are family traits. If I had a dollar for every time I’ve been told I look (or act) like “a Kelly," I’d likely not be heading out to work everyday as my bank account would be plenty full. In some cases these traits are not so obvious. My polycystic kidney disease is an example of this.
Polycystic kidney disease (PKD) is a genetic disease that can be passed from one generation to the next. Parents have a 50/50 chance of passing it on to their children. At times the gene is not passed on, but a spontaneous mutation that occurs within the genes which then can cause the PKD in that person. They are then carriers and can pass it on to their children.
The first person that I know of in my family to have PKD is my maternal grandfather. Since it’s not known if one of his parents had it, he may have had the gene mutation occur. He first learned that he had PKD in the mid-1960’s when my mother was in high school. He was shoveling snow off the roof of their house and fell. He broke his back in the fall and when doctors performed x-rays to see if there were any other injuries, they saw his kidneys and detected that there was a problem. Growing up, I don’t even remember if I knew what he had. I know that he had a big, fake vein in his arm that grossed me out. I know that he ate minimal meat (protein) and limited salt. I knew that he went to dialysis three days a week, but I didn’t know any other way because he started that when I was about 2 years old (he was 60) and continued until he passed away at age 69.
Unfortunately, my mother did inherit her father’s disease; however, her brother is PKD free. My mom learned of her PKD in her 30’s. For the most part she was healthy until her mid-50’s. In November 2005, at age 57, she began dialysis. Just 6 months later, in May 2006, she got the call that there was a kidney for her. This wait time was less than was anticipated, but she made the decision to have the transplant and was at Maine Medical Center that night and the kidney arrived there for her surgery.
I learned that I had PKD in high school when they did an ultrasound to see if it had been passed on to me. I remember seeing the cysts in the ultrasound, but it didn’t really register with me that I had an incurable disease. I was young, my mother seemed fine, and my grandfather lived until 69, and as a teenager, that seemed old. This wasn’t an issue to worry about--it was an old person’s problem.
Well, here I am at 42 and it is my problem. I think it really hit me about two years ago when my nephrologist told me that I only had 30% kidney function left. I was quite surprised to say the least. However, with this disease, there is nothing that can be done to prevent its progression and he couldn’t say how long it would be until I was at the point of where I am now. Despite maintaining a low protein and low salt diet, keeping my blood pressure under control with medication, and being an overall active, healthy person, my kidneys declined fairly quickly.
I’m still perplexed as to why it has impacted me so young. My grandfather was in his 60’s, my mom was in her 50’s, and here I am in my 40’s. My brother, who is 5 years older, has PKD, but his kidney function is not in an area of concern at this time. Since it is genetic, there is the chance that I have passed it on to my own kids. Since both kids have my freckles, my brown eyes, and some of my other finer qualities, we can hope that they inherited some other things from Jason. Maybe not his shopping or snoring genes, but I’d be happy if they got his healthy kidneys.
