It takes a little bit of silliness for Bill Brazell to draw attention to a very serious disease that's affected him and several generations of his family.
"Every year, I go to a couple of walks dressed as a kidney," said Brazell.
Brazell, 42, dons his Kenny the Kidney costume, complete with Styrofoam cysts, to raise awareness about polycystic kidney disease, or PKD, a genetic disorder that causes cysts to form on the kidneys, leading the kidneys to become enlarged and eventually causing kidney failure leading to dialysis or transplantation.
"It's the most common inherited disorder in the world after the BRCA genes for breast cancer," said Dr. Theodore Steinman, professor of medicine at Harvard Medical School. "It's the most common single-gene defect in the world, and affects about 600,000 Americans and 12.5 million people worldwide," he added.
Despite the fact that it's so common and so insidious, Brazell says it's an under-recognized disease, which is why he steps out as his kidney alter-ego.
"I've been at events and met kids who don't even know what a kidney is," said Brazell.
But he knows all about the kidneys and how PKD can affect them.
His father and uncle both had PKD, and they passed it on to five of their combined six children.
"I was diagnosed in my freshman year of college, but I didn't do anything about it for a long time," said Brazell. "My dad told me not to think about it until I got older."
But when Brazell was 35, his cousin, who also had PKD, died after having an aneurysm. He was also 35.
"I didn't want to die this young," Brazell said, and he started to take action by raising money and awareness. He also now serves on the Board of Trustees of the PKD Foundation.
Awareness Vital to Saving Money and Lives
"PKD is more common than sickle cell anemia, Down syndrome, muscular dystrophy, Huntington's disease, hemophilia and cystic fibrosis combined, yet all these diseases are more well-known," said Brazell.
By drawing attention to the disease, Brazell hopes to get more money for research from donors and from Congress.
"Each year, PKD costs $2 billion in terms of Medicare and Medicaid payments, and that doesn't include lost productivity due to people being on dialysis," said Brazell. "But the government only spends $40 million on research."
More research, he said, means saving the government billions of dollars and saving the lives of people with PKD.
Patients Often Go Years Without Knowing They Have PKD
PKD is an autosomal dominant disease, meaning if just one parent has a gene mutation for it, there's a 50% chance of passing it on to a child. There's also a recessive form of the disease that is relatively rare.
With the dominant form of the disease, kidney failure doesn't normally occur until patients are in their mid-50's and they have to go on dialysis or get a kidney transplant, said Dr. Ronald Perrone, professor of medicine at Tufts University School of Medicine.
"Most people don't know much about dialysis and don't think it's a big deal," said Perrone.
"The cysts cause an increase in abdominal girth, which can cause back pain," said Steinman. "The cysts can also press up against the abdomen and cause abdominal pain."
Experts say symptoms usually don't show up until a person's 30s or 40s, so many people never even know they have the disease. If they have a family member who has it, it can be detected by an ultrasound.
Experts also believe PKD doesn't get a lot of attention because the symptoms of the disease don't affect children.
"There may not be as much of an emotional impact," said Perrone.
Research Very Promising, Say Experts
Even though there's no cure for PKD and treatment involves managing symptoms, experts say ongoing research offers a lot of hope.
"There's been an explosion of research in the past couple of decades," said Perrone.
"The goal of current research is to slow down the natural course history of PKD so patients can do much better for much longer," said Steinman. He added that there are currently five studies underway that are investigating the effects of different drugs on cyst growth. Results of another study recently completed should be available in the next year or so.
"Cysts are the disease, so if we can stop the cysts from growing, we can hopefully slow down the disease," said Steinman. Although he said the drugs under investigation do show the potential for stopping cyst growth, more research is needed to determine how long they can stave off kidney failure.
Experts say more research is also needed to eventually develop a cure.
Brazell holds out a lot of hope for the current research as well as future studies, and not only for his own sake. He has an 11-month-old daughter.
"The research is going so well, so by the time it may be a problem for her, it's my feeling that it won't be a problem."