Bill is living with rapidly progressing autosomal dominant polycystic kidney disease, or ADPKD, and taking JYNARQUE® (tolvaptan).
19 years old and newly diagnosed with autosomal dominant polycystic kidney disease (ADPKD), Bill feared his life was halfway over. The family members he’d known with ADPKD all died in their 40s and 50s, and in Bill’s mind, there was nothing he could do to change that outcome. So, for the next 15 years, Bill did the only thing he thought he could—he went about his life. It wasn’t until Bill’s first encounter with the ADPKD community that he realized: I can do something about my ADPKD. Today, he encourages others living with ADPKD to take action, because—now more than ever—there is hope.
Please remember that none of the information discussed in this article should replace the conversations with your healthcare provider. Bill is sharing his own thoughts and experiences, so please keep that in mind as your thoughts and experiences may be different.
Talk to your doctor to see if JYNARQUE is right for you.
When did you first become aware of ADPKD in your family?
Bill: I grew up knowing that my grandfather had dropped dead at 44, that his father had died at 45, and that his father’s father had died at 43—all of unexplained heart attacks. A few years after my grandfather died, his older sister Marie slipped and broke her leg. In the hospital, the doctors told her stunned children that Marie was going to die. Her kidneys were shot. Marie’s renal failure was the first hint of what might be causing all of those early deaths.
When my dad was in his mid-twenties, he found blood in his urine after a pickup basketball game. An x-ray showed cysts all over his kidneys. Now he knew what had almost certainly killed his father, his aunt, and many other family members.
Was there a moment when you realized you might inherit the disease?
Bill: When I was 14, my dad told me that there was a chance I would inherit his condition. I don’t think he knew what it was called. He told me that the chance was only one in four, but I should check someday. He was wrong about the odds, but that was the information he was given. As a freshman in college, I needed a physical in order to row crew. I asked the college clinic doctor to check to see if I may have the cystic disease my dad had mentioned. I don’t remember worrying about it. My dad said it was just a one-in-four chance, so I figured the odds were on my side. When I went back to the doctor a week later, though, he said, “Well…you’ve got it.”
What thoughts and emotions were going through your mind when you received this diagnosis?
Bill: I went numb. I walked back to my dorm room, locked the door. I didn’t call any friends or family members. I didn’t want to tell anyone. I stood looking out the window, watching people walking by. I wanted to be alone because I felt alone. All I could think was, These people walking by can expect a full life. Mine may be half over.
“We believed that we were opening the door to further research that could help other families like ours.”
It must’ve been difficult coming to terms with a progressive diagnosis, especially at a young age. How would you describe your outlook on living with ADPKD?
Bill: I couldn’t help but wonder if it made sense to pursue a long-term career or project, because I might not live to complete it. I couldn’t see a way to be happy again. Get married? Have children? I thought, “I don’t want to die early on a wife or any kids we may have, and certainly don’t want to leave fatherless kids to face the bleak, short future I’m facing.” I felt a sense of futility—of uselessness. Why bother? The doctors I spoke to knew very little about managing ADPKD, but they told me to stay in touch. Something might happen in the years ahead. At that point, it never occurred to me that I might help something happen.
What changed your perspective on managing ADPKD?
Bill: In 2002, I went to my first awareness and fundraising walk sponsored by a PKD support and advocacy organization. There I met, for the first time, people outside my family who also had ADPKD. I was speechless. ADPKD had felt like a dark cloud hanging over my family alone. All at once, I realized that there were events like this one, featuring families like mine, all over the country. I got involved in fundraising and awareness efforts. I wore a kidney costume to a black-tie gala.
The following year, my cousin Mike died suddenly of ADPKD complications. He was just 35—my age. Mike’s death shocked me. It scared and enraged me. I vowed to do whatever I could to help support research for this disease. I’m not a scientist or a celebrity. I’m not rich. Nonetheless—however small the effect of my efforts might be—I felt that I had to make them. Sitting still meant waiting for an early death.
“I want to communicate to as many people as possible that we have a way of addressing this disease. So don’t wait! Don’t procrastinate.”
How did you take action? What steps did you take to support ADPKD research?
Bill: I’d heard about a promising experimental drug called tolvaptan and had seen photos of the kidneys of mice who’d been treated with it. I liked what I saw, so I started following tolvaptan’s development. Some years after Mike’s passing, I joined 19 other people to participate in one of the first human clinical trials of tolvaptan. We believed we were doing something important: helping with the development of a treatment option for ADPKD. We believed that we were opening the door to further research that could help other families like ours. Now that the FDA has approved tolvaptan as JYNARQUE, my nephrologist has prescribed JYNARQUE to treat my rapidly progressing ADPKD. JYNARQUE can cause serious and potentially fatal liver damage, so to be certain that the medicine is not affecting my liver enzymes, I have my blood drawn on a regular basis as part of the Risk Evaluation and Mitigation Strategy, or REMS, program for JYNARQUE.
JYNARQUE makes me crave water in a way I never used to do. I keep a glass of it near me at all times and am aware of nearby water sources when I travel. I’m also more aware of bathroom locations than I used to be, because all that water has to go somewhere. Remember, this is my experience, and other people’s experiences may be different.
What’s your outlook on ADPKD today, and how is it different from when you were first diagnosed?
Bill: Today I’m lucky to be very happily married. My wife and I have three lovely daughters. They know that their dad has a kidney disease called ADPKD. They’ve heard that it runs in the family. They know it has killed some relatives they never met, including my cousin when he was quite young. But they also see me smiling in that kidney costume each year when they join me at walks for PKD. Although they don’t know it yet, I’m walking in large part for them. I’m walking for Mike, too. And I’m walking for others living with ADPKD. I want to communicate to as many people as possible that we have a way of addressing this disease. So don’t wait! Don’t procrastinate. This is a better time for us than we’ve ever had before.
Patients were compensated for their time.