Taking Steps Toward a Cure

By Robert Slager
TownOnline.com
February 17, 2006

Every day the road gets a little longer for Jennifer McGuiggan. Every day means another step toward understanding.

Heartbreak Hill looms somewhere in the distance, but the Boston Marathon is only a goal. The journey will last far longer.

The Wareham mother of two had never heard of Polycystic Kidney Disease (PKD) when her own mother took ill. Most people haven’t. An estimated 650,000 Americans suffer from this debilitating ailment, more than 12.5 million worldwide. It is the most prevalent genetic disorder known to mankind.

And yet it remains in the dark shadow of conversation. The disease has no face, no Michael J. Fox, no national spokesperson who can cut through the stigma of a potentially fatal affliction that can be passed down to children.

"I’m still shocked that more people don’t know about this," said McGuiggan, who has watched her mother wither from failing kidneys.

So McGuiggan has taken literal steps to break down the wall of silence. The 28-year-old will run in the marathon in April, asking local residents to donate funds to the PKD Foundation Northeast Chapter c/o Cathy Rulli 32 Croton St. Wellesley, MA 02481.

"So few people know about PDK that it’s not even a recognized charity at the marathon," McGuiggan said. "It’s not even on their list. Cancer and AIDS are certainly important causes, but PKD deserves recognition and awareness as well."

According to the PKD Foundation, PKD affects more people than cystic fibrosis, muscular dystrophy, hemophilia, Down syndrome and sickle cell anemia combined. Those suffering the disease develop multiple cysts on each kidney. These cysts grow and multiply over time, also causing the mass of the kidney to increase. Ultimately, the diseased kidney shuts down, causing end-stage renal disease for which dialysis and transplantation are the only forms of treatment.

Most who carry the non-infectious disease won’t show symptoms for many years. Those symptoms could include abdominal pain, kidney stones and high blood pressure. Around 50 percent of those who carry the disease will pass it along. McGuiggan’s grandmother passed it down to two of her three children McGuiggan’s mother, 56-year-old Rodena Wilson, didn’t show signs of the disease until she was in her mid 30s. Now she requires constant dialysis.

"She knew she had the disease but she didn’t tell me for a long time," said McGuiggan, an EMT in Carver and mother of two young boys. "My uncle has it too."

McGuiggan hasn’t been tested. She isn’t sure she wants to be.

"I’m a day-to-day person," she said. "I can’t live my life worrying about what’s going to happen. There is no treatment until you start to develop the disease. I already live my life as healthy as I can."

But McGuiggan remains haunted by the thought she may have passed the disease to one of her children.

"From what I understand, if I don’t have the disease I can’t pass it along to my children," she said. "There are times I just want to know for certain."

Ignorance may or may not be bliss. Three-year-old Ryan stared up for a moment with the eyes of his mother while 1-year-old Matthew enjoyed his morning nap nearby.

"Sometimes you just want things to stay just as they are," McGuiggan said.

The former high school cross country runner has been training since late November. Although already in terrific shape from regular trips to the Gleason Family YMCA, she surprised herself a bit by covering six miles with little difficulty her first time out. She’s planning on running in the New Bedford Half-Marathon in a few weeks to put her endurance to the test.

"I’ve been running round trip to the Y," she said. "That’s about six miles. I just can’t run on a treadmill. It’s just too boring for me."

When she’s by herself she’ll pop in some Beastie Boys or Rage Against the Machine. When friend Jen Porter tags along, the conversation runs the entire gamut.

"It makes it go by faster," she said.

For Steve Fader, time moves much more slowly now. The Ashland resident serves as director of PKD’s northeast chapter. He also suffers from the disease.

"In my own mind, it’s the disease that gets no respect," he said. "It’s the Rodney Dangerfield of diseases. Most general practitioners don’t emphasize testing because the disease is not stressed in medical school"

Fader believes that genetic testing of PKD should be a common part of a medical examination.

"Once you couldn’t find any information on this disease," he said. "Cause of death was listed as heart failure or something else. We’ve made great strides in the last 20 years to isolate the gene that causes it. Researchers and doctors need more money because funding is very small next to other diseases."

Fader, who had a kidney transplant in 1998, said that the stigma of the illness must also be addressed.

"A lot of people are afraid of going public because it might make it difficult to get medical insurance for their children," he said. "I understand that people want to protect their kids, but we also have to create a strong voice in the community. There must be famous people who know they have PKD. Somebody needs to step forward so others will have the courage to do the same."

McGuiggan doesn’t see herself as a hero. She jokes that she "can’t back out now, not after talking to a reporter." All she wants to do is raise money and awareness for a disease that remains mostly unknown and unspoken.

"People need to know," she said. "This disease is for real. I worry about my children. It’s for real."