Heather Oman had never heard of polycystic kidney disease until she was diagnosed with it in January 2006.
She's 35. A wife and mother of two children, ages 3 and 8. There is no cure. Average age of morbidity: 58.
Oman is working out, eating right and trying to beat the odds. Polycystic kidney disease, or PKD for short, is a disorder in which clusters of cysts develop in the kidneys. It affects about 600,000 Americans and is the fourth-leading cause of kidney failure, according to the National Kidney Foundation.
Oman was experiencing back pain and numbness in her legs and toes. Her doctor suspected it was a spinal cord tumor and ordered an MRI.
"I was fully prepared to handle a diagnosis of cancer," she said.
Instead, she was told it was PKD.
"I had never heard of it. It was a complete shock. I said, 'I don't have that.'"
The pain she was experiencing was the result of enlarged kidneys. As cysts grow in the kidneys, they replace kidney matter, forcing kidneys to grow to compensate for the cysts, Oman said. Her kidneys were so big they were pushing on her spinal nerves.
"They're probably the size of Nerf footballs," Oman said. They should be the size of fists.
She wasn't aware of any family history of PKD, so her sisters and parents got checked. Turns out, her dad has a very mild case. He remains asymptomatic, and it may never cause him problems, Oman said. About half of people with PKD will have kidney failure by age 60, according to the National Kidney Foundation. The disease affects people differently, causing some serious problems while others may never experience symptoms.
It also means her children have a 50 percent chance of having it.
That hasn't stopped her from wanting more children, though. The disease has.
"I would actually love to have more children, but because of my kidney function, I actually can't have more kids," she said. "The reality is it's probably too dangerous to have another child."
Oman had four miscarriages after her first child, which may or may not be due to her kidney disease. Then she got pregnant with her daughter. Before her pregnancy, her kidneys were functioning at 100 percent. After, she lost 40 percent of function. She had a difficult pregnancy that resulted in high blood pressure that never decreased. She is on blood pressure medication and probably will be for the rest of her life, she said.
PKD is an adult-onset disease. She's not sure if she wants to get her kids tested. It depends on whether a treatment comes up that slows cyst growth. She's in a study to see if a combination of blood pressure medications have an impact on cysts. Blood pressure is regulated by the kidneys.
Numbness comes and goes, but the pain is fairly constant. It feels like someone is pushing on the sides of her abdomen and her tailbone. It's too painful to lie on her back. She maintains a low-sodium diet and exercises — it keeps the pain at bay.
"The more fit I am, the less pain I have," she said.
Her diagnosis made her think: What would I like to accomplish before it goes out or I have to go on dialysis or get a kidney transplant?