A genetics counselor at Mass General suggested I might not want to have children. With no treatment on the horizon, I thought he might be right.
In 2004, I was thrilled to learn about a promising experimental drug that needed human volunteers. A normal kidney is the size of a fist. Many PKD kidneys grow to the size of footballs. I didn't want to depend on cyst-riddled 40-pound footballs to filter my blood. So I got locked up for nine days in the Orlando Clinical Research Center with twenty other PKD patients. We padded around in scrubs and slippers, took the pills twice a day, and collected our urine in jugs.
The alternative? Wait for our cysts to get bigger each year until they overwhelmed our kidneys, forcing a choice: the enervation of dialysis, the transplantation and subsequent medication to maintain a third kidney if we could find one (average wait: three to five years), or death.
Otsuka America Pharmaceutical told us that in gratitude for our sacrifice, it would give our little group this promising medication open-label when we got home. We got the real drug, not a placebo.
Photos of tolvaptan's effect on the kidneys of mice suggested I could have children after all. After three years on the drug, I married happily. Our toddler daughters each have a 50 percent chance of developing PKD, but approval felt so likely that my wife and I found the risk acceptable.
Last November, Otsuka showed that in a three-year double-blind study, tolvaptan had slowed both the increase in total kidney volume and the decline in kidney function in PKD patients. My family and I cried for joy.
In Silver Spring, Maryland, on August 5, along with four other PKD volunteers, two PKD Foundation staffers, and letters from 159 who could not be there, I asked the Cardiovascular and Renal Drugs Advisory Committee to please approve tolvaptan.
Instead, some members of the panel claimed that the observed decrease in the growth of kidney volume—it slowed by an average of 51 percent—was "not significant." They seemed not to understand that such a slowdown would buy us many years of healthy life.
As SunTrust Mortgage CEO and PKD Foundation board member Jerome Lienhard told me, "Even five extra years before needing a transplant would have made an enormous difference to my wife and kids, and to my career."
A small number of patients experienced potentially important elevations of liver enzymes (4.9 percent, compared to 1.2 percent of those who took a placebo), but the panel focused for hours on the simultaneous elevations in both liver-enzyme levels and bilirubin that occurred in just three patients out of the 860 who took the drug. In all three, the elevations occurred within 18 months. After those patients stopped taking tolvaptan, their levels returned to normal. No one suffered permanent damage, whereas untreated PKD causes a great deal of permanent damage. Otsuka offered to test every new recipient's blood every month for the first 18 months. That failed to reassure the panel. The panel also worried about a number of people who, having dropped out of the study for various reasons (the medication makes you pee much more than a normal person does), also declined to keep traveling long distances for follow-up MRIs (South Africa to Germany, in one case; most subjects had to travel long distances and take time off from work if they wanted to stay in the study).