living well with life-threatening kidney disease
an early diagnosis can make a big Difference For those Facing chronic illness
For Jil Eisnor, the water is the hardest part. When you have polycystic kidney disease ( PKD), it is important to focus on measures that are good for the health of the kidney, like drinking lots of water and other dietary changes. The 34- year- old marketing executive has given up salt, caffeine and packaged foods with relative ease. Water, though, remains a persistent point of weakness. She just can’t seem to reach her daily goal of three to five litres a day.
“I think my doctor thinks it is Groundhog Day every time I go in. Every time I see him, he is like, ‘ more water!’ I can’t drink more water,” Eisnor laughs. She points out that there are only so many bathroom breaks one can take during a workday filled with meetings. “I have been told I need to drink more water for the past five years, and I still can’t seem to crack it.”
Eisnor has kept her sense of humour despite having to live with a chronic kidney condition. Originally from Nova Scotia, she discovered she had PKD just before her last year of university. She went to a hospital in Wolfville with severe abdominal pain. After a number of scans and ultrasounds, doctors determined she had a specific type of the disease known as autosomal dominant polycystic kidney disease (ADPKD).
“The word ‘disease’ at the age of 20 was the scariest thing ever,” Eisnor recalls. “I was in a hospital all by myself, and told I had a chronic disease and I had no idea what it was. It felt like my world was falling apart.”
Polycystic kidney disease is a chronic disorder that affects about one in 500 Canadians, and millions of people around the world. It is a frequent cause of kidney failure and leads to the growth of cysts that develop primarily in the kidneys but can also affect the liver, and other areas of the body. The cysts can grow large enough to completely shut down organs, leading to the need for a transplant and/or dialysis.
“It is one of the most common life- threatening genetic diseases that we have,” says Dr. Andrew Steele, a nephrologist at the Lakeridge Health Centre in Oshawa, Ont. “It is more common than Huntington’s disease, cystic fibrosis and muscular dystrophy combined.”
There is no cure, but doctors have new tools to better identify higher-risk patients and slow the progression of cyst growth in some individuals. The key, says Dr. Steele, is understanding that it is the cysts themselves and their proliferation that leads to organ failure. If you can reduce cyst growth, you can slow the progression of PKD and keep the kidneys functioning for a longer period of time.
“I think we are living in exciting times where we can understand what causes the cysts to grow. Now that we know what genes are involved, we can look at therapies down the road to try and c ut or r e verse the progression of PKD,” Dr. Steele says.
While it is an inherited disease that is often passed on through generations of families, Eisnor is unusual in that neither of her biological parents have PKD. Dr. Steele notes this can happen in a minority of cases.
“The PKD gene has a f airly strong new mutation rate,” Dr. Steele says. “A small number of people with this condition, about five to 10 per cent, are the first in their family to develop this disease.”
To learn more about her condition, she reached out to Jeff Robertson, executive director of the PKD Founda- tion of Canada. After moving to Toronto, Eisnor began to volunteer with the organization and take part in fundraising events.
“Jil is a young, active and healthy individual leading a normal life with PKD,” says Robertson. “From a career, a social or a family standpoint she is as busy as anyone. She doesn’t let this disease slow her down.”
Eisnor got married in September, and she and her husband have bought a loft in Toronto’s east end. They are thinking about having children and have access to genetic testing and IVF tech- nology to prevent the disease from being passed on to the next generation.
“It’s incredible that we even have the opportunity to consider something like this,” she says.
Eisnor feels fortunate to have been diagnosed at an early age. It has given her an opportunity to embrace a healthy lifestyle and potentially reduce the impact of PKD on her health. She has gone from “no cooking skills” to making her own pasta from scratch.
As f or t he water i ntake, that is still a work in progress.
iF you can reduce cyst growth, you can slow the progression oF pkd and keep the kidneys Functioning For a longer period oF time