Ontario woman sees progress in fight against genetic kidney disease
NEW ADVANCES GIVE FRESH HOPE TO CANADIANS LIVING WITH CHRONIC ILLNESS
IHEIDI WESTFIELD POSTMEDIA CONTENT WORKS t is hard to know exactly when Jan Robertson decided to fight. It could have been when she was first diagnosed with polycystic kidney disease (PKD). Or back when her abdomen was so large and swollen, people thought she was nine months’ pregnant. Maybe it was the day she was in a hospital waiting for a transplant and was told she had less than 24 hours to live.
All those challenges, she feels, have helped her become more resilient. They have bolstered the 63- yearold grandmother’s resolve to fight the disease and offer support to others. They have guided her efforts to help build a national organization raising awareness and funds to find a cure for PKD.
What Robertson is seeing today offers fresh hope. A recent medical discovery is giving adults living with PKD a way to slow the progression of the disease. The new therapy represents a leap forward from what was known about the illness when she was first diagnosed.
Doctors discovered Robertson had the autosomal dominant form of polycystic kidney disease ( ADPKD) more than 35 years ago. It is characterized by the growth of cysts on the kidneys and other organs such as the liver.
“The kidneys are essentially big bags of blood vessels that filter and clean the blood,” explains Dr. Andrew Steele, a nephrologist at the Lakeridge Health Centre in Oshawa, Ont. “PKD leads to the growth of hundreds if not thousands of fluid- filled cysts. As they become more prevalent, they destroy normal healthy kidney tissue.”
For Robertson, it was her liver that was hit hardest by the disease. Doctors first noticed her liver was larger than normal after she gave birth to her first child. She had no idea there was a family history of PKD. Up until then she had enjoyed good health and an active lifestyle.
“They did the tests and then all heck broke loose,” Robertson recalls. “I had no idea I was sick at all, and I had this brand new baby. It was a total shock.”
At the time of her diagnosis, PKD was still a mystery that medical researchers had yet to unravel. Very little was known about the chronic genetic disorder that affects millions of people around the world, and about one in 500 Canadians. Doctors told Robertson there was very little they could do other than monitor the growth of the cysts.
Unaware of the genetic risks, she had another child and channelled her efforts into raising a family. Her worst fear was that one of her children, Jeff or Megan, would inherit the disease. Both have since been tested and neither carries the PKD gene.
Over time, Robertson’s liver continued to grow in size. Her abdomen became so large it literally rested on her legs. The once- athletic woman found doing even simple t asks t i ring and difficult.
“I think my hardest moments were the limitations on our activities. We did go to Florida but we weren’t able to go skiing or biking as a family. I wish that had been different.”
In 1994, Robertson got a phone call that would change the course of her life. It was from an Ontario man with PKD, who was looking to meet up with others with the disease. Up until then she had felt isolated, left with only basic information and very little support. Their meeting was a crucial connection that led to the creation of Canada’s first PKD society.
“They were not satisfied with the fact that there wasn’t a supportive organization out there,” recalls her son Jeff, now the executive director of the organization that grew from that society to the PKD Foundation of Canada. “There wasn’t an advocacy group pushing for PKD awareness and research. So my mother and the founders decided to build an organization to create the support.”
At around the same time, Robertson saw a new doctor who immediately put her on a liver transplant list. That surgery, in April 1998, had a major impact on her well-being.
“Before the transplant, if I didn’t get anything accomplished by noon I was pretty much done. I was exhausted all the time. After the transplant, my life changed tremendously. It was a miracle.”
With the transplant, Robertson had more energy for her family. She was also becoming more involved in building a PKD community across the country. A need for a second transplant 10 years later, with just hours to live, did not dull her focus. She has taken a leading role in awareness and advocacy, raising funds for research and education.
“This is a woman who has been on her deathbed twice over. If you saw her today, though, you wouldn’t be able to keep up with her. This is a true testament to her positivity. She has always smiled through the thick of it,” her son says. His mother’s grit and determination made the difference that has helped him embrace the cause, and become a leading advocate for the PKD community.
Jeff Robertson is heartened by the progress he is seeing today. Doctors are making gains in decoding this complex disease. Adults with PKD now have a new management option that blocks the hormone causing cyst growth. It is hoped that this discovery will lead to more advances, and brighter futures.
“What I did through my life after I got sick was set goals for myself,” Robertson says. Her goal now is to be alive when a cure for PKD is found. Until then, she takes comfort in the fact that young people today will not have to go through the hardships she had to overcome. Her fight belongs to many more people now, an army of PKD “warriors” who are determined to beat this disease.
OVER TIME, ROBERTSON’S LIVER CONTINUED TO GROW I N SIZE. HER ABDOMEN BECAME SO LARGE, I T LITERALLY RESTED ON HER LEGS